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Colletti G, Ciniselli CM, Rausa E, Signoroni S, Cocco IMF, Magarotto A, Ricci MT, Brignola C, Mancini A, Cavalcoli F, Cattaneo L, Milione M, Verderio P, Vitellaro M. Reply to Serrano et al. Comment on “Colletti et al. Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study. Cancers 2022, 14, 298”. Cancers (Basel) 2022; 14:cancers14133241. [PMID: 35805013 PMCID: PMC9265077 DOI: 10.3390/cancers14133241] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/10/2022] [Accepted: 06/29/2022] [Indexed: 12/04/2022] Open
Affiliation(s)
- Gaia Colletti
- Department of Surgery, Colorectal Surgery Unit, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (G.C.); (M.V.)
- General Surgery Residency Program, University of Milan, Via Festa del Perdono 7, 20122 Milan, Italy
| | - Chiara Maura Ciniselli
- Unit of Bioinformatics and Biostatistics, Department of Applied Research and Technological Development, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (C.M.C.); (P.V.)
| | - Emanuele Rausa
- General Surgery 1, Papa Giovanni XXIII Hospital, 24127 Bergamo, Italy;
| | - Stefano Signoroni
- Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (M.T.R.); (C.B.)
- Correspondence: ; Tel.: +39-02-23902113; Fax: +39-02-23902114
| | | | - Andrea Magarotto
- Diagnostic and Surgical Endoscopy Unit, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (A.M.); (A.M.); (F.C.)
| | - Maria Teresa Ricci
- Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (M.T.R.); (C.B.)
| | - Clorinda Brignola
- Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (M.T.R.); (C.B.)
| | - Andrea Mancini
- Diagnostic and Surgical Endoscopy Unit, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (A.M.); (A.M.); (F.C.)
| | - Federica Cavalcoli
- Diagnostic and Surgical Endoscopy Unit, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (A.M.); (A.M.); (F.C.)
| | - Laura Cattaneo
- First Pathology Division, Department of Diagnostic Pathology and Laboratory, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (L.C.); (M.M.)
| | - Massimo Milione
- First Pathology Division, Department of Diagnostic Pathology and Laboratory, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (L.C.); (M.M.)
| | - Paolo Verderio
- Unit of Bioinformatics and Biostatistics, Department of Applied Research and Technological Development, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (C.M.C.); (P.V.)
| | - Marco Vitellaro
- Department of Surgery, Colorectal Surgery Unit, Fondazione IRCSS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (G.C.); (M.V.)
- Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy; (M.T.R.); (C.B.)
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Comment on Colletti et al. Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study. Cancers 2022, 14, 298. Cancers (Basel) 2022; 14:cancers14112650. [PMID: 35681630 PMCID: PMC9179353 DOI: 10.3390/cancers14112650] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/08/2022] [Accepted: 05/25/2022] [Indexed: 12/30/2022] Open
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Long-term prognosis of familial adenomatous polyposis with or without mucosectomy. Int J Colorectal Dis 2022; 37:1133-1140. [PMID: 35460038 DOI: 10.1007/s00384-022-04154-2] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 04/17/2022] [Indexed: 02/04/2023]
Abstract
PURPOSE This study primarily aimed to compare the long-term prognosis of patients who underwent total colectomy/proctocolectomy with or without mucosectomy to the dentate line for the diagnosis of familial adenomatous polyposis (FAP). METHODS Patients who underwent total colectomy/proctocolectomy for FAP between January 1979 and December 2020 and were followed up at Hamamatsu University Hospital were included in this study. Those who underwent total proctocolectomy with hand-sewn ileal pouch-anal anastomosis were defined as the mucosectomy group. Those who underwent total colectomy or total proctocolectomy using the stapled ileal pouch-anal anastomosis approach were defined as the no mucosectomy group. RESULTS A total of 61 individuals (37 families) were diagnosed during the surveillance period (median, 191 months). Between the mucosectomy (n = 24) and no mucosectomy groups (n = 34), metachronous rectal cancer was significantly more common in the no mucosectomy group (21% in no mucosectomy vs. 0% in mucosectomy, P = 0.02). Overall survival in the no mucosectomy group was worse than that in the mucosectomy group (84.5% in no mucosectomy vs. 100% in mucosectomy at 120 months, 81.1% vs. 90.0% at 240 months, 50.6% vs. 75.0% at 360 months, P = 0.09). Cox regression analysis revealed an independent effect of not performing mucosectomy on overall survival (P = 0.03). CONCLUSION Long-term surveillance revealed that colectomy or total proctocolectomy without mucosectomy had a negative impact on the overall survival of patients with FAP. Therefore, we recommend total proctocolectomy with mucosectomy, i.e., hand-sewn ileal pouch-anal anastomosis, for FAP.
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Kudchadkar S, Ahmed S, Mukherjee T, Sagar J. Current guidelines in the surgical management of hereditary colorectal cancers. World J Gastrointest Oncol 2022; 14:833-841. [PMID: 35582097 PMCID: PMC9048527 DOI: 10.4251/wjgo.v14.i4.833] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/25/2021] [Revised: 10/16/2021] [Accepted: 03/04/2022] [Indexed: 02/06/2023] Open
Abstract
Incidence of colorectal cancer (CRC) is on rise. While approximately 70% of all CRC cases are sporadic in nature, 20%-25% have familial aggregation and only < 5% is hereditary in origin. Identification of individuals with hereditary predilection for CRC is critical, as it has an impact on their overall surgical management including surgical timing, approach & technique and determines the role of prophylactic surgery and outcome. This review highlights the concept of hereditary CRC, provides insight into its molecular basis, possibility of its application into clinical practice and emphasizes the current treatment strategies with surgical management, based on the available international guidelines.
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Affiliation(s)
- Shantata Kudchadkar
- Department of Colorectal Surgery, Luton & Dunstable University Hospital NHS Foundation Trust, Luton LU4 0DZ, United Kingdom
| | - Safia Ahmed
- Department of Colorectal Surgery, Luton & Dunstable University Hospital NHS Foundation Trust, Luton LU4 0DZ, United Kingdom
| | - Tanmoy Mukherjee
- Department of Colorectal Surgery, Luton & Dunstable University Hospital NHS Foundation Trust, Luton LU4 0DZ, United Kingdom
| | - Jayesh Sagar
- Department of Colorectal Surgery, Luton & Dunstable University Hospital NHS Foundation Trust, Luton LU4 0DZ, United Kingdom
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Anele CC, Martin I, McGinty Duggan PM, Chauhan J, Clark SK, Faiz OD, Latchford AR. Attenuated Familial Adenomatous Polyposis: A Phenotypic Diagnosis but Obsolete Term? Dis Colon Rectum 2022; 65:529-535. [PMID: 34775416 DOI: 10.1097/dcr.0000000000002217] [Citation(s) in RCA: 12] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
BACKGROUND Attenuated familial adenomatous polyposis is characterised by low number (≤100) and delayed development of colorectal adenomas. Various definitions have been used, and genotype-phenotype correlations have been suggested. OBJECTIVE We aimed to evaluate phenotypic and genotypic correlation in patients with presumed attenuated familial adenomatous polyposis and assess familial variability. DESIGN This is a retrospective study. SETTINGS This study was conducted at a tertiary polyposis registry. PATIENTS Individuals with attenuated familial adenomatous polyposis were identified. Phenotypic group was defined as 100 or fewer adenomas at age 25 years and genotypic group was defined as a variant in the adenomatous polyposis coli region associated with attenuated familial adenomatous polyposis. Pathology polyp count was used for patients who had undergone surgery and endoscopic polyp count for those with intact colon. MAIN OUTCOME MEASURES We evaluated phenotypic and genotypic correlation in patients with presumed attenuated familial adenomatous polyposis and familial variability. RESULTS A total of 69 patients were identified in the phenotypic group, of whom 54 (78%) had a pathogenic variant in the attenuated regions of the adenomatous polyposis coli gene. Forty-eight (70%) had intact colon (median age at last colonoscopy 43 [25-73] years; median endoscopic polyp count 20 [0-100]) and 21 (30%) had undergone colectomy (median age at surgery 45 [25-54] years; median pathology polyp count 43 [3-100]). Eighty-three patients were identified in the genotypic group of which 54 (65%) had attenuated phenotype. Inter- and intrafamilial variability were observed. LIMITATIONS This study was limited by its retrospective nature and single-center experience. CONCLUSION Phenotype in familial adenomatous polyposis lies on a spectrum and is determined in part by genotype and age at adenoma count. Diagnosis of attenuated familial adenomatous polyposis should be based on phenotype; genotype is not a reliable indicator. Management should be personalized according to the phenotype of each individual. See Video Abstract at http://links.lww.com/DCR/B775. POLIPOSIS ADENOMATOSA FAMILIAR ATENUADA UN DIAGNSTICO FENOTPICO PERO TRMINO OBSOLETO ANTECEDENTES:La poliposis adenomatosa familiar atenuada se caracteriza por un número bajo (≤100) y desarrollo retardado de adenomas colorrectales. Se han utilizado varias definiciones y se han sugerido correlaciones genotipo-fenotipo.OBJETIVO:Nuestro objetivo es evaluar la correlación fenotípica y genotípica en pacientes con presunta poliposis adenomatosa familiar atenuada y evaluar la variabilidad familiar.DISEÑO:Este es un estudio retrospectivo.AJUSTE:Este estudio se realizó en un registro terciario de poliposis.PACIENTES:Se identificaron individuos con poliposis adenomatosa familiar atenuada. El grupo fenotípico se definió como ≤100 adenomas a la edad de 25 años y el grupo genotípico se definió como una variante en la región de poliposis coli adenomatosa asociada con poliposis adenomatosa familiar atenuada. Se utilizó el recuento de pólipos en patología para los pacientes que se habían sometido a cirugía y el recuento de pólipos endoscópico para los que tenían el colon intacto.PRINCIPALES MEDIDAS DE RESULTADO:Evaluamos la correlación fenotípica y genotípica en pacientes con presunta poliposis adenomatosa familiar atenuada y variabilidad familiar.RESULTADOS:Un total de 69 pacientes se identificaron en el grupo fenotípico de los cuales 54 (78%) tenían una variante patogénica en las regiones atenuadas del gen de la poliposis coli adenomatosa. Cuarenta y ocho (70%) tenían colon intacto (edad media en la última colonoscopia 43 [25-73] años; mediana del recuento de pólipos endoscópicos 20 [0-100]) y 21 (30%) se habían sometido a colectomía (edad edia en el momento de la cirugía 45 [25-54] años; mediana del recuento de pólipos patológicos 43 [3-100]). Se identificaron 83 pacientes en el grupo genotípico de los cuales 54 (65%) tenían fenotipo atenuado. Se observó variabilidad inter e intrafamiliar.LIMITACIONES:Este estudio estuvo limitado por su naturaleza retrospectiva y la experiencia de un solo centro.CONCLUSIÓNES:El fenotipo en la poliposis adenomatosa familiar se encuentra en un espectro, determinado en parte por el genotipo y la edad en el momento del recuento de adenomas. El diagnóstico de poliposis adenomatosa familiar atenuada debe basarse en el fenotipo; el genotipo no es un indicador confiable. El manejo debe personalizarse según el fenotipo de cada individuo. Consulte Video Resumen en http://links.lww.com/DCR/B775.
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Affiliation(s)
- Chukwuemeka C Anele
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, United Kingdom
- Department of Surgery and Cancer, Imperial College, London, United Kingdom
| | - Isabel Martin
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, United Kingdom
- Department of Surgery and Cancer, Imperial College, London, United Kingdom
| | - Patricia M McGinty Duggan
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, United Kingdom
| | - Jeshu Chauhan
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, United Kingdom
| | - Susan K Clark
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, United Kingdom
- Department of Surgery and Cancer, Imperial College, London, United Kingdom
| | - Omar D Faiz
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, United Kingdom
- Department of Surgery and Cancer, Imperial College, London, United Kingdom
| | - Andrew R Latchford
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, United Kingdom
- Department of Surgery and Cancer, Imperial College, London, United Kingdom
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Anele CC, Xiang J, Martin I, Hawkins M, Man R, Clark SK, Faiz OD, Latchford A. Regular endoscopic surveillance and polypectomy is effective in managing rectal adenoma progression following colectomy and ileorectal anastomosis in patients with familial adenomatous polyposis. Colorectal Dis 2022; 24:277-283. [PMID: 34741380 DOI: 10.1111/codi.15981] [Citation(s) in RCA: 17] [Impact Index Per Article: 5.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/11/2021] [Revised: 10/28/2021] [Accepted: 11/01/2021] [Indexed: 01/04/2023]
Abstract
AIM Total colectomy with ileorectal anastomosis (TC-IRA) is a surgical option for patients with familial adenomatous polyposis (FAP). Regular endoscopic surveillance of the rectum is recommended to prevent rectal cancer. We aimed to document polyp progression in the rectum following TC-IRA and evaluate the role of polypectomy during surveillance. METHOD Patients with FAP who underwent TC-IRA between 1990 and 2017 were identified. Demographic, endoscopic and genetic data were retrieved. Cumulative rectal adenoma (polyp) counts were obtained, whilst accounting for any polypectomies during the study period. The rate of polyp progression and factors influencing secondary proctectomy were evaluated. RESULTS One hundred and ninety-nine patients fulfilled our inclusion criteria, of which 44% were male. The median age at colectomy was 19 (range 11-70) years and median preoperative rectal polyp count was 7 (range 0-50). All patients had an APC pathogenic variant, of which 151 (79%) were 5' of the mutation cluster region (MCR), 19 (10%) in the MCR, six (3%) were 3' of the MCR and 15 (8%) had a gross deletion. After a median follow-up of 8.6 (range1-27) years and a median of 11 (range 2-37) flexible sigmoidoscopies per patient, the median rate of polyp progression was 5.5 polyps/year (range 0-70.2). There was no evidence of polyp regression. Eight (4%) patients underwent secondary proctectomy for neoplasia, of which one (0.5%) had rectal adenocarcinoma. A total of 13,527 polyps were removed, a median of 35 polyps/patient (range 0-829). The rate of polyp progression was not significantly associated with genotypic or phenotypic factors. CONCLUSION Progression of rectal adenoma burden following TC-IRA appears to be slow and dependent on the length of follow-up. In the modern era of stringent endoscopic surveillance and therapeutic procedures such as cold snare polypectomy, the rate of secondary proctectomy and the risk of rectal cancer after TC-IRA are very low. These findings are important when counselling patients with regard to the choice of surgery for FAP and implementing endoscopic surveillance.
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Affiliation(s)
- Chukwuemeka C Anele
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Department of Surgery and Cancer, Imperial College, London, UK
| | - Jinpo Xiang
- Department of Medicine, Imperial College, London, UK
| | - Isabel Martin
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK
| | - Menna Hawkins
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK
| | - Ripple Man
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK
| | - Susan K Clark
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK
| | - Omar D Faiz
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK
| | - Andrew Latchford
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK
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Qin T, Liao J, Qin H, Meng L, Wang W, Huang Z, Liu J, Mo X. Advantages of total proctocolectomy with straight ileoanal anastomosis plus pedicled omental transposition for familial adenomatous polyposis: a preliminary study. World J Surg Oncol 2022; 20:20. [PMID: 35065641 PMCID: PMC8783503 DOI: 10.1186/s12957-022-02488-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/01/2021] [Accepted: 12/30/2021] [Indexed: 11/28/2022] Open
Abstract
PURPOSE To achieve excellent postoperative bowel function in familial adenomatous polyposis (FAP) patients, it is important to reconstruct the digestive tract. The aim of this study is to preliminarily discuss the advantages of total proctocolectomy with straight ileoanal anastomosis (TPC-SIAA) plus pedicled omental transposition for FAP. METHODS A retrospective study was carried out in two hospitals analysing data for FAP patients who underwent surgical treatments between 2015 and 2021. Perioperative outcomes and early and mid-term anal functions were analysed. RESULTS After excluding 4 patients who underwent total proctocolectomy with permanent ileostomy, 10 patients were enrolled in the study. Among the 10 patients, 3 received TPC-SIAA plus pedicled omental transposition, 3 received total proctocolectomy with ileal pouch-anal anastomosis (TPC-IPAA), and 4 received total colectomy with ileal pouch-rectal anastomosis (TC-IPRA). Except for one case conversion to laparotomy, laparoscopic surgery was performed for the other cases. The incidence of early postoperative complications was apparently higher with pouch anastomosis (57.1%) than straight anastomosis (0%). Frequencies of bowel movement and low anterior resection syndrome (LARS) score were higher for TPC-SIAA than the other two surgical procedures in the early term; over time, however, the frequencies of bowel movement and LARS score both showed a decreasing trend. In addition, combined with anorectal pressure detection and magnetic resonance imaging defecography at the 3rd month after TPC-SIAA plus pedicled omental transposition, defecation coordination was good. The dynamics and receptivity of the new rectum tended to be as expected. CONCLUSION Although the three surgical procedures are safe and feasible surgical options for FAP, TPC-SIAA plus pedicled omental transposition is more consistent with intestinal physiology, with good intestinal compliance, and anal function tended to be as expected over time. Nevertheless, more extensive studies are needed to confirm these benefits.
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Affiliation(s)
- Tianci Qin
- Department of General Surgery, Guiping People's Hospital, No.7, People's West Road, Guiping, Guigang, 537200, Guangxi Autonomous Region, China
| | - Jiankun Liao
- Department of Gastrointestinal Surgery, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, China
- Guangxi Clinical Research Center for Colorectal Cancer, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, The People's Republic of China
| | - Haiquan Qin
- Department of Gastrointestinal Surgery, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, China
- Guangxi Clinical Research Center for Colorectal Cancer, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, The People's Republic of China
| | - Linghou Meng
- Department of Gastrointestinal Surgery, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, China
- Guangxi Clinical Research Center for Colorectal Cancer, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, The People's Republic of China
| | - Wentao Wang
- Department of Gastrointestinal Surgery, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, China
- Guangxi Clinical Research Center for Colorectal Cancer, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, The People's Republic of China
| | - Zigao Huang
- Department of Gastrointestinal Surgery, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, China
- Guangxi Clinical Research Center for Colorectal Cancer, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, The People's Republic of China
| | - Jungang Liu
- Department of Gastrointestinal Surgery, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, China
- Guangxi Clinical Research Center for Colorectal Cancer, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, The People's Republic of China
| | - Xianwei Mo
- Department of Gastrointestinal Surgery, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, China.
- Guangxi Clinical Research Center for Colorectal Cancer, Division of Colorectal and Anal, Guangxi Medical University Cancer Hospital, No.71, Hedi Road, Qingxiu District, Nanning, 530021, Guangxi Autonomous Region, The People's Republic of China.
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Tanaka S, Saitoh Y, Matsuda T, Igarashi M, Matsumoto T, Iwao Y, Suzuki Y, Nozaki R, Sugai T, Oka S, Itabashi M, Sugihara KI, Tsuruta O, Hirata I, Nishida H, Miwa H, Enomoto N, Shimosegawa T, Koike K. Evidence-based clinical practice guidelines for management of colorectal polyps. J Gastroenterol 2021; 56:323-335. [PMID: 33710392 PMCID: PMC8005396 DOI: 10.1007/s00535-021-01776-1] [Citation(s) in RCA: 57] [Impact Index Per Article: 14.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/14/2020] [Accepted: 02/27/2021] [Indexed: 02/04/2023]
Abstract
BACKGROUND The Japanese Society of Gastroenterology (JSGE) published ''Daicho Polyp Shinryo Guideline 2014'' in Japanese and a part of this guideline was published in English as "Evidence-based clinical practice guidelines for management of colorectal polyps" in the Journal of Gastroenterology in 2015. A revised version of the Japanese-language guideline was published in 2020, and here we introduce a part of the contents of revised version. METHODS The guideline committee discussed and drew up a series of clinical questions (CQs). Recommendation statements for the CQs were limited to items with multiple therapeutic options. Items with established conclusions that had 100% agreement with previous guidelines (background questions) and items with no (or old) evidence that are topics for future research (future research questions: FRQs) were given descriptions only. To address the CQs and FRQs, PubMed, ICHUSHI, and other sources were searched for relevant articles published in English from 1983 to October 2018 and articles published in Japanese from 1983 to November 2018. The Japan Medical Library Association was also commissioned to search for relevant materials. Manual searches were performed for questions with insufficient online references. RESULTS The professional committee created 18 CQs and statements concerning the current concept and diagnosis/treatment of various colorectal polyps, including their epidemiology, screening, pathophysiology, definition and classification, diagnosis, management, practical treatment, complications, and surveillance after treatment, and other colorectal lesions (submucosal tumors, nonneoplastic polyps, polyposis, hereditary tumors, ulcerative colitis-associated tumors/carcinomas). CONCLUSIONS After evaluation by the moderators, evidence-based clinical practice guidelines for management of colorectal polyps were proposed for 2020. This report addresses the therapeutic related CQs introduced when formulating these guidelines.
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Affiliation(s)
- Shinji Tanaka
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan.
- Department of Endoscopy, Hiroshima University Hospital, 1-2-3 Minami-ku, KasumiHiroshima, 734-8551, Japan.
| | - Yusuke Saitoh
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Takahisa Matsuda
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Masahiro Igarashi
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Takayuki Matsumoto
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Yasushi Iwao
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Yasumoto Suzuki
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Ryoichi Nozaki
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Tamotsu Sugai
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Shiro Oka
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Michio Itabashi
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Ken-Ichi Sugihara
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Osamu Tsuruta
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Ichiro Hirata
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Hiroshi Nishida
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Hiroto Miwa
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Nobuyuki Enomoto
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Tooru Shimosegawa
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
| | - Kazuhiko Koike
- Guidelines Committee for Creating and Evaluating the "Evidence-Based Clinical Practice Guidelines for Management of Colorectal Polyps", the Japanese Society of Gastroenterology (JSGE), 6F Shimbashi i-MARK Bldg., 2-6-2 Shimbashi, Minato-ku, Tokyo, 105-0004, Japan
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9
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Anele CC, Nachiappan S, Sinha A, Cuthill V, Jenkins JT, Clark SK, Latchford A, Faiz OD. Safety and efficacy of laparoscopic near-total colectomy and ileo-distal sigmoid anastomosis as a modification of total colectomy and ileorectal anastomosis for prophylactic surgery in patients with adenomatous polyposis syndromes: a comparative study. Colorectal Dis 2020; 22:799-805. [PMID: 31943692 DOI: 10.1111/codi.14964] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/07/2019] [Accepted: 12/15/2019] [Indexed: 02/08/2023]
Abstract
AIM Colectomy in patients with adenomatous polyposis (AP) syndromes demands good oncological and surgical outcome. Total colectomy with ileorectal anastomosis (TC-IRA) is one surgical option for these patients. Anastomotic leakage rates of 11% have been reported following TC-IRA. Ileo-distal sigmoid anastomosis (IDSA) is a recent modification of our practice. Our aim was to compare postoperative outcome in patients with AP following near-total colectomy with IDSA (NT-IDSA) and TC-IRA at a single institution. METHOD A prospectively maintained database was reviewed to identify patients with AP who underwent laparoscopic NT-IDSA and TC-IRA. Patient demographics, early morbidity and mortality and outcome of endoscopic surveillance were evaluated. RESULTS A total of 191 patients with AP underwent laparoscopic colectomy between 2006 and 2017, of whom 139 (72.8%) underwent TC-IRA and 52 (27.2%) NT-IDSA. The median age at surgery in the TC-IRA and NT-IDSA groups was 20 years (IQR 17-45) and 27 years (IQR 19-50), respectively. Grade II complications were comparable between the two groups. There were no anastomotic leakages in the NT-IDSA group compared with 15 (10.8%) in the TC-IRA group (P = 0.0125) and no reoperation in the NT-IDSA group compared with 17 (12.2%) in the TC-IRA group (P = 0.008). The frequency of polypectomies per flexible sigmoidoscopy was comparable between the two groups. CONCLUSION This study demonstrates that laparoscopic NT-IDSA for polyposis is associated with a significant improvement in anastomotic leakage rates and surgical outcome. It is too soon to tell whether NT-IDSA alters the need for further intervention, either endoscopic polypectomy or further surgery.
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Affiliation(s)
- C C Anele
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Surgical Epidemiology, Trials and Outcome Centre (SETOC), St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Department of Surgery and Cancer, Imperial College London, London, UK
| | - S Nachiappan
- Surgical Epidemiology, Trials and Outcome Centre (SETOC), St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Department of Surgery and Cancer, Imperial College London, London, UK
| | - A Sinha
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Department of Surgery and Cancer, Imperial College London, London, UK
| | - V Cuthill
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK
| | - J T Jenkins
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Department of Surgery and Cancer, Imperial College London, London, UK
| | - S K Clark
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Department of Surgery and Cancer, Imperial College London, London, UK
| | - A Latchford
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Department of Surgery and Cancer, Imperial College London, London, UK
| | - O D Faiz
- The Polyposis Registry, St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Surgical Epidemiology, Trials and Outcome Centre (SETOC), St Mark's Hospital, London North West University Healthcare NHS Trust, Harrow, UK.,Department of Surgery and Cancer, Imperial College London, London, UK
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10
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Ardoino I, Signoroni S, Malvicini E, Ricci MT, Biganzoli EM, Bertario L, Occhionorelli S, Vitellaro M. Long-term survival between total colectomy versus proctocolectomy in patients with FAP: a registry-based, observational cohort study. TUMORI JOURNAL 2019; 106:139-148. [DOI: 10.1177/0300891619868019] [Citation(s) in RCA: 13] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022]
Abstract
Background: The best surgical choice for patients with familial adenomatous polyposis (FAP) is still debated. No prospective trials have been carried out to evaluate the pros and cons of the recommended procedures: total colectomy (ileorectal anastomosis [IRA]) vs restorative proctocolectomy (ileal pouch–anal anastomosis [IPAA]). The aim of this study was to provide a basis for tailored precision surgery in patients with FAP. Methods: We conducted a retrospective review of patients with FAP who underwent surgery and were registered in a dedicated database in Milan, Italy. Twenty-year survival related to surgical approach and prognostic factors were investigated using a Cox regression model. Results: A total of 925 patients underwent surgery between 1947 and 2015: 340 (36.8%) IPAA and 585 (63.2%) IRA. Colorectal cancer (CRC) at surgery was diagnosed in 28.6% of patients and a pathogenic APC variant was identified in 88%. During a median follow-up of 129 months, 150 patients died. The survival probability was significantly higher in the IRA than the IPAA group: 0.82 vs 0.75 (hazard ratio [HR] 0.6, 95% confidence interval [CI] 0.42–0.84). Multivariable regression modeling adjusted for propensity scores showed a similar difference, although no longer significant. Multivariable analysis indicated as independent risk factors CRC (HR 4.68, 95% CI 3.04–7.20) and age at surgery (HR 1.03, 95% CI 1.02–1.06). Among patients without cancer, the main risk factor for shorter survival was older age (HR 1.06, 95% CI 1.04–1.09). Conclusion: The study confirms excellent long-term results of surgical approaches with IRA and IPAA, suggesting that the best surgical choice may be an individually and clinically tailored approach, preferably at a young age.
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Affiliation(s)
- Ilaria Ardoino
- Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy
- Unit of Medical Statistics, Biometry and Bioinformatics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Stefano Signoroni
- Unit of Hereditary Digestive Tract Tumors, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Enzo Malvicini
- Department of Morphology, Surgery and Experimental Medicine, University of Ferrara and S. Anna University Hospital of Ferrara, Ferrara, Italy
| | - Maria Teresa Ricci
- Unit of Hereditary Digestive Tract Tumors, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Elia M. Biganzoli
- Unit of Medical Statistics, Biometry and Bioinformatics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
- Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
| | - Lucio Bertario
- Unit of Hereditary Digestive Tract Tumors, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Savino Occhionorelli
- Department of Morphology, Surgery and Experimental Medicine, University of Ferrara and S. Anna University Hospital of Ferrara, Ferrara, Italy
| | - Marco Vitellaro
- Unit of Hereditary Digestive Tract Tumors, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
- Colorectal Surgery Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
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11
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Abstract
Colorectal adenomatous polyposis syndromes encompass a diverse group of disorders with varying modes of inheritance and penetrance. Children may present with overt disease or within screening programs for families at high risk. We provide an overview of the array of pediatric polyposis syndromes, current screening recommendations, and surgical indications and technical considerations. Optimal disease management for these pediatric patients is still evolving and has implications for screening, surveillance, pediatric surgical management, and transition of care gastroenterologic neoplasia physicians and surgeons.
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Affiliation(s)
- Aodhnait S Fahy
- Division of Pediatric Surgery, Department of Surgery, Mayo Clinic, Rochester, Minnesota
| | - Christopher R Moir
- Division of Pediatric Surgery, Department of Surgery, Mayo Clinic, Rochester, Minnesota
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12
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Gan M, Boothe D, Neklason DW, Samadder NJ, Frandsen J, Keener MB, Lloyd S. Outcomes and complications of radiation therapy in patients with familial adenomatous polyposis. J Gastrointest Oncol 2017; 8:643-649. [PMID: 28890814 DOI: 10.21037/jgo.2017.03.01] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/19/2022] Open
Abstract
BACKGROUND The outcomes, complications, and rates of secondary malignancies from radiation therapy (RT) are not known for patients with familial adenomatous polyposis (FAP). METHODS We queried the Hereditary Gastrointestinal Cancer Registry (HGCR) for patients with FAP who received RT. Outcomes assessed included acute and late treatment toxicity and secondary malignancies. RESULTS We identified 15 patients undergoing 18 treatment courses. Median follow-up was 3.1 years after RT. Treated sites included rectal cancer, desmoid, prostate cancer, breast cancer, melanoma, medulloblastoma, gastric cancer, and glioma. Secondary tumors occurred in two patients: a medulloblastoma was diagnosed in a patient treated for glioma, and a desmoid tumor was diagnosed in a patient treated for rectal cancer. All nine patients treated with intra-abdominal or pelvic RT had prior prophylactic proctocolectomies, yet only one patient experienced grade 3 gastrointestinal toxicity. Common Terminology Criteria for Adverse Events version 4 (CTCAE v4) toxicities were grade 1 in seven treatment courses (39%), grade 2 in five courses (28%), and grade 3 in two courses (11%). CONCLUSIONS In this cohort, RT was well tolerated with adverse effects comparable with non-FAP patients. Secondary in-field tumors occurred in 2 of 15 patients and their increased risk in this cohort was likely due to prior predilection from FAP itself, although an increased role of RT cannot be ruled out.
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Affiliation(s)
- Meng Gan
- University of Utah School of Medicine; Salt Lake City, UT, USA
| | - Dustin Boothe
- Department of Radiation Oncology, Huntsman Cancer Hospital, University of Utah; Salt Lake City, UT, USA
| | - Deborah W Neklason
- Department of Oncological Sciences, University of Utah; Salt Lake City, UT, USA
| | - N Jewel Samadder
- Department of Internal Medicine, University of Utah; Salt Lake City, UT, USA
| | - Jonathan Frandsen
- Department of Radiation Oncology, Huntsman Cancer Hospital, University of Utah; Salt Lake City, UT, USA
| | - Megan B Keener
- Department of Oncological Sciences, University of Utah; Salt Lake City, UT, USA
| | - Shane Lloyd
- Department of Radiation Oncology, Huntsman Cancer Hospital, University of Utah; Salt Lake City, UT, USA
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13
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Burke CA, Phillips R, Berger MF, Li C, Essex MN, Iorga D, Lynch PM. Children's International Polyposis (CHIP) study: a randomized, double-blind, placebo-controlled study of celecoxib in children with familial adenomatous polyposis. Clin Exp Gastroenterol 2017; 10:177-185. [PMID: 28765715 PMCID: PMC5525455 DOI: 10.2147/ceg.s121841] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/28/2023] Open
Abstract
Objective To evaluate the efficacy and safety of celecoxib versus placebo in the prevention and treatment of colorectal polyposis in children with familial adenomatous polyposis (FAP). Methods In this Phase III, double-blind, randomized, placebo-controlled, multicenter trial patients aged 10–17 years with FAP were randomized to celecoxib (16 mg/kg/day) or placebo for up to 5 years. Patients underwent annual assessments, including colonoscopies, to detect the time from randomization to the earliest occurrence of ≥20 polyps (>2 mm in size) or colorectal malignancy. The study was terminated early due to low rate of observed endpoints combined with a lower than expected enrollment rate. Descriptive results are provided. Results Of 106 randomized patients, 55 were treated with celecoxib (mean age 12.6 years; 52.7% female) and 51 were given placebo (mean age 12.2 years; 54.9% female). Disease progression (≥20 polyps, >2 mm in size) was observed in seven (12.7%) and 13 (25.5%) patients, respectively. The median time to disease progression was 2.1 years in the celecoxib group and 1.1 years for placebo. No patient developed colorectal cancer. The rate of adverse events (AEs) was similar in both groups (75.5% and 72.9%, respectively). Three patients in the celecoxib group (none in the placebo group) experienced serious AEs. Conclusion In children with FAP, celecoxib was a well-tolerated treatment that was associated with a lower rate of colorectal polyposis and a longer time to disease progression compared with placebo. Due to the low rate of observed endpoints, the long-term impact of these results could not be ascertained.
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Affiliation(s)
- Carol A Burke
- Department of Gastroenterology and Hepatology, Cleveland Clinic, Cleveland, OH, USA
| | - Robin Phillips
- Department of Surgery, St Mark's Hospital and Academic Institute, Middlesex, UK
| | | | | | | | | | - Patrick M Lynch
- Department of Gastroenterology, Hepatology and Nutrition, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
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14
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Roncucci L, Pedroni M, Mariani F. Attenuated adenomatous polyposis of the large bowel: Present and future. World J Gastroenterol 2017; 23:4135-4139. [PMID: 28694653 PMCID: PMC5483487 DOI: 10.3748/wjg.v23.i23.4135] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/27/2017] [Revised: 04/03/2017] [Accepted: 05/09/2017] [Indexed: 02/06/2023] Open
Abstract
Attenuated adenomatous polyposis (AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis (FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other side. AAP shows a milder phenotype than FAP, with an older age of onset of adenomas and cancer, and less frequent extracolonic manifestations. AAP may be diagnosed as a single case in a family or, less frequently, it may be present in other family members, and it shows distinct pattern of inheritance. In less than 50% of cases, it may be caused by adenomatous polyposis coli (APC) or MUTYH mutations, referred to as APC-associated polyposis, inherited as an autosomal dominant trait, or MUTYH-associated polyposis, which shows an autosomal recessive mechanism of inheritance, respectively. Surveillance should rely on colonoscopy at regular intervals, with removal of adenomas and careful histological examination. When removal of polyps is not possible or advanced lesions are observed, the surgical approach is mandatory, being subtotal colectomy with ileo-rectal anastomosis the treatment of choice. Studies on this syndrome are lacking, and controversies are still present on many issues, thus, other clinical and genetic studies are requested.
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15
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Hawkins AT, Wise PE. Colon cancer in hereditary syndromes. SEMINARS IN COLON AND RECTAL SURGERY 2016. [DOI: 10.1053/j.scrs.2016.04.021] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
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16
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Inoue Y, Ishida H, Ueno H, Kobayashi H, Yamaguchi T, Konishi T, Tomita N, Matsubara N, Ishida F, Hinoi T, Kanemitsu Y, Watanabe T, Sugihara K. Therapeutic approaches for patients with coexisting familial adenomatous polyposis and colorectal cancer. Jpn J Clin Oncol 2016; 46:819-24. [DOI: 10.1093/jjco/hyw086] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/22/2016] [Accepted: 06/07/2016] [Indexed: 01/06/2023] Open
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17
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Ueki T, Manabe T, Nagayoshi K, Yanai K, Moriyama T, Shimizu S, Tanaka M. Reduced-port laparoscopic restorative proctocolectomy without diverting ileostomy. Asian J Endosc Surg 2015; 8:487-90. [PMID: 26708593 DOI: 10.1111/ases.12201] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/29/2015] [Revised: 05/03/2015] [Accepted: 05/08/2015] [Indexed: 01/30/2023]
Abstract
INTRODUCTION We introduced a reduced-port procedure for laparoscopic restorative proctocolectomy without diverting ileostomy for patients with familial adenomatous polyposis and ulcerative colitis. MATERIALS AND SURGICAL TECHNIQUE A multichannel port was inserted through a 2.5-cm umbilical incision. A 12-mm port in the right lower abdomen and a 3- or 5-mm port were also employed. A proctocolectomy was performed intracorporeally, and the entire colon and rectum were delivered through the umbilical incision. An ileal J-pouch was made extracorporeally following division of the mesenteric vessels. Ileal j-pouch-anal anastomosis was performed intracorporeally or transanally after rectal mucosectomy. A drain was inserted through the 12-mm port incision, and a transanal decompression tube was placed in the pouch. Two women and one man underwent this surgery, and their postoperative recovery was uneventful. DISCUSSION Laparoscopic restorative proctocolectomy without a diverting stoma by a reduced-port technique is feasible and provides excellent cosmetic outcomes in selected patients.
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Affiliation(s)
- Takashi Ueki
- Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Tatsuya Manabe
- Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Kinuko Nagayoshi
- Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Kosuke Yanai
- Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Taiki Moriyama
- Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Shuji Shimizu
- Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Masao Tanaka
- Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
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18
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Maehata Y, Esaki M, Nakamura S, Hirahashi M, Ueki T, Iida M, Kitazono T, Matsumoto T. Risk of cancer in the rectal remnant after ileorectal anastomosis in patients with familial adenomatous polyposis: single center experience. Dig Endosc 2015; 27:471-478. [PMID: 25495028 DOI: 10.1111/den.12414] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/19/2014] [Accepted: 12/08/2014] [Indexed: 02/08/2023]
Abstract
BACKGROUND AND AIM We aimed to evaluate the long-term risk of cancer in the rectal remnant in patients with familial adenomatous polyposis after ileorectal anastomosis. METHODS Cumulative incidence and clinicopathological characteristics of cancer in the rectal remnant were retrospectively investigated in 27 patients with familial adenomatous polyposis who had undergone ileorectal anastomosis. RESULTS During the follow-up period ranging from 3.0 to 35.0 years (median, 21.1 years), cancer in the rectal remnant developed in 10 patients. Cumulative risk of cancer in the rectal remnant 30 years after surgery was 57%. Five patients had metastases and three patients died of cancer in the rectal remnant after proctectomy. There was a trend towards a higher incidence of cancer in the rectal remnant in patients with small-intestinal adenoma and congenital hypertrophy of the retinal pigment epithelium. Multivariate analysis revealed that the ocular lesion was an independent risk factor associated with cancer in the rectal remnant. CONCLUSION Subtotal colectomy with ileorectal anastomosis does not seem to be an appropriate prophylactic surgery in patients with familial adenomatous polyposis.
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Affiliation(s)
- Yuji Maehata
- Department of Medicine and Clinical Science, Kyushu University, Fukuoka, Japan
| | - Motohiro Esaki
- Department of Medicine and Clinical Science, Kyushu University, Fukuoka, Japan
| | - Shotaro Nakamura
- Division of Gastroenterology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Morioka, Japan
| | - Minako Hirahashi
- Department of Anatomic Pathology, Kyushu University, Fukuoka, Japan
| | - Takashi Ueki
- Department of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Mitsuo Iida
- Kyushu Central Hospital of the Mutual Aid Association of Public School Teachers, Fukuoka, Japan
| | - Takanari Kitazono
- Department of Medicine and Clinical Science, Kyushu University, Fukuoka, Japan
| | - Takayuki Matsumoto
- Division of Gastroenterology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Morioka, Japan
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Hereditary Colorectal Cancer and Polyposis Syndromes. Surg Oncol 2015. [DOI: 10.1007/978-1-4939-1423-4_20] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/24/2022]
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20
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Murgic J, Kirac I, Soldic Z, Tomas D, Zovak M, Bolanca A, Plawski A, Banasiewicz Y, Kusic Z. Familial adenomatous polyposis in three generations of a single family: a case study. Case Rep Oncol 2014; 7:349-56. [PMID: 24987355 PMCID: PMC4067724 DOI: 10.1159/000363221] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/25/2022] Open
Abstract
Background Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited syndrome characterized by the development of numerous polyps in the colon and rectum. If left untreated, the affected patients inevitably develop colon cancer by the age of 40 years. A resection of the colon (colectomy) or of the colon and rectum (proctocolectomy) is needed to minimize the risk of cancer. Case Presentation We report a case of FAP through three generations of a single family, in which the grandmother and granddaughter underwent total colectomy with ileoanal anastomosis and did not develop colon cancer, while the son underwent subtotal colectomy with ileorectal anastomosis and developed recurrent rectal cancer. Data regarding timely surgery, surveillance, and chemoprevention are discussed. Conclusion The FAP phenotype determines the type of treatment. In severe polyposis, proctocolectomy with ileoanal anastomosis seems to be the optimal method for minimizing the risk of cancer development. This case report advocates complete rectal removal, especially in cases of poor patient compliance with colonoscopic surveillance.
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Affiliation(s)
- Jure Murgic
- Department of Oncology and Nuclear Medicine, University Hospital for Tumors, Croatia, Poland
| | - Iva Kirac
- Department of Surgical Oncology, University Hospital for Tumors, Croatia, Poland
| | - Zeljko Soldic
- Department of Oncology and Nuclear Medicine, University Hospital for Tumors, Croatia, Poland
| | - Davor Tomas
- Ljudevit Jurak Department of Pathology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia, Poland
| | - Mario Zovak
- Department of Surgery, Sestre milosrdnice University Hospital Center, Zagreb, Croatia, Poland
| | - Ante Bolanca
- Department of Oncology and Nuclear Medicine, University Hospital for Tumors, Croatia, Poland
| | - Andrzej Plawski
- Institute of Human Genetics, Polish Academy of Sciences, Poznań University of Medical Sciences, Poznań, Poland
| | - Y Banasiewicz
- Department of General Surgery, Poznań University of Medical Sciences, Poznań, Poland
| | - Zvonko Kusic
- Department of Oncology and Nuclear Medicine, University Hospital for Tumors, Croatia, Poland
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21
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Macaron C, Leach BH, Burke CA. Hereditary colorectal cancer syndromes and genetic testing. J Surg Oncol 2014; 111:103-11. [PMID: 24975382 DOI: 10.1002/jso.23706] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/08/2014] [Accepted: 05/24/2014] [Indexed: 12/15/2022]
Abstract
Colorectal cancer (CRC) is a leading cause of cancer and cancer deaths in the Western world. Approximately 5-10% of CRC are hereditary, due to a defined genetic cause. Individuals and families affected with a hereditary CRC syndrome exhibit benign and malignant extra-intestinal tumors, require aggressive cancer screening and benefit from management by a multi-disciplinary team of professionals. The clinical manifestations, genetic causes and current management of patients with hereditary colon cancer syndrome is provided.
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Affiliation(s)
- Carole Macaron
- Department of Gastroenterology and Hepatology, The Cleveland Clinic, Cleveland, Ohio
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22
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Risk of cancer and secondary proctectomy after colectomy and ileorectal anastomosis in familial adenomatous polyposis. Int J Colorectal Dis 2014; 29:225-30. [PMID: 24292488 DOI: 10.1007/s00384-013-1796-4] [Citation(s) in RCA: 31] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 11/17/2013] [Indexed: 02/04/2023]
Abstract
PURPOSE The aim of our retrospective study was to review the outcome of patients undergoing colectomy with ileorectal anastomosis (IRA) due to familial adenomatous polyposis (FAP) in Finland during the last 50 years. METHODS The cumulative risk of rectal cancer and the rate of anus preservation were analyzed. A total of 140 FAP patients with previous colectomy combined with ileorectal anastomosis were included. Kaplan-Meier analysis was performed to evaluate cumulative risks. RESULTS Secondary proctectomy was performed for 39 (28 %) of 140 patients. The cumulative risk of secondary proctectomy was 53 % at 30 years after colectomy with IRA. A total of 17 (44 %) secondary proctectomies were performed due to cancer or suspicion of cancer, and another 17 (44 %) secondary proctectomies were performed due to uncontrollable rectal polyposis. During our study, the anus preservation rate in secondary proctectomies was 49 %. The cumulative risk of rectal cancer was 24 % at 30 years after colectomy with IRA. Therefore, the cumulative rectal cancer mortality 30 years after colectomy with IRA was 9 %. CONCLUSIONS Proctocolectomy and ileal pouch-anal anastomosis (IPAA) should be favored as a primary operation for patients not having technical or medical contraindications for it because colectomy with IRA carried a rectal cancer risk of 13 % with a mortality of 7 % during our study, and because IPAA is likely to succeed better at earlier phase of the disease. Patients with attenuated FAP had no rectal cancer in our study, and they may form a group where IRA should still be the first choice as an exception.
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Feitosa MR, Oliveira THGFD, Kondo BRP, Lira HGD, Abissamra AA, Parra RS, Féres O, Rocha JJRD. The epidemiological and clinical features of familial adenomatous polyposis in Ribeirão Preto. JOURNAL OF COLOPROCTOLOGY 2013; 33:126-130. [DOI: 10.1016/j.jcol.2013.06.003] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/01/2023]
Abstract
Abstract
Purpose to study 75 familial adenomatous polyposis (FAP) patients treated in a single institution in Ribeirão Preto/SP, from January 1981 to December 2011.
Methods this is a retrospective study and the following data were collected: gender, age, main symptoms, familial history, coexisting malignancies, surgical treatment, surgical morbidity and mortality, factors related to life quality.
Results median age was 29 years. Male-to-female ratio was 1.2:1. Bleeding was the most common symptom (62.6%). Colorectal cancer incidence was 25.5% (n = 19). Extracolonic neoplasia incidence was 8%. Colectomy with ileorectal anastomosis (IRA) was performed in 72% of the patients. Eighteen patients (24%) were submitted to proctocolectomy with “J-pouch” ileoanal anastomosis. In three patients (4%) proctocolectomy with terminal ileostomy was performed. Early and late complication rate were similar (22.7% × 24%). Ileal pouch surgery exhibited tendency to a higher morbidity and mortality but no significance could be found. Overall mortality rate was 7.46%. Malignant neoplasia was the main cause of mortality, accounting for 60% of deaths.
Conclusion FAP is a rare pathology in our country. Genetic counseling and proper screening programs are essential tools to early diagnosis and follow-up. Surgery is the most effective treatment and the best option to prevent malignant neoplasia.
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Affiliation(s)
- Marley Ribeiro Feitosa
- Divisão de Coloproctologia, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil
| | | | | | | | - André Antonio Abissamra
- Divisão de Coloproctologia, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil
| | - Rogério Serafim Parra
- Divisão de Coloproctologia, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil
- Faculdade de Medicina de Ribeirão Preto, USP, Ribeirão Preto, SP, Brazil
| | - Omar Féres
- Divisão de Coloproctologia, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil
| | - Jose Joaquim Ribeiro da Rocha
- Divisão de Coloproctologia, Hospital das Clínicas, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (USP), Ribeirão Preto, SP, Brazil
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Turina M, Pavlik CM, Heinimann K, Behrensmeier F, Simmen HP. Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years. Int J Colorectal Dis 2013; 28:865-72. [PMID: 23114473 DOI: 10.1007/s00384-012-1600-x] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 10/15/2012] [Indexed: 02/04/2023]
Abstract
PURPOSE Screening of Gardner syndrome (GS) patients is tailored towards prevention of colorectal cancer (CRC). However, many patients suffer from desmoid tumors, which are challenging to treat due to invasive growth and local recurrence. The aims of our study were to determine the effectiveness of screening in GS and analyze outcome of desmoid tumors by treatment modality. METHODS This was a cohort study of a family of 105 descendants with GS. All family members who agreed were screened by endoscopy, and colorectal resection was performed upon pending malignancy. Resectable desmoids were excised, whereas large tumors were treated by a combination of brachytherapy (BT) and radiotherapy (RT). Main outcome measures were the incidence of CRC and overall and disease-specific mortality (ClinicalTrial.gov ID NCT01286662). RESULTS Thirty-seven of 105 family members have GS. Preventive colorectal resections were performed in 16 patients (15 %), with one death due to gastric cancer. In four patients who denied screening endoscopy, invasive tumors of the colon (three patients) and stomach developed. Of 33 desmoid tumors, 10 (30 %) were located in the mesentery, 17 (52 %) in the abdominal wall, and 6 (18 %) in extra-abdominal sites. Excision of 12 desmoids was performed in eight patients. Four desmoids were treated by BT and RT and showed full or partial remission. CONCLUSIONS Provided adequate screening, good long-term control of colorectal tumors is achievable. However, desmoid tumors determine survival and quality of life in many patients. Our data suggest good local control using a combination of brachytherapy/radiotherapy in large desmoids unsuitable for surgical resection.
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Affiliation(s)
- Matthias Turina
- Department of Colorectal Surgery, Cleveland Clinic Foundation, 9500 Euclid Ave., Cleveland, OH 44195, USA.
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Bülow S, Højen H, Buntzen S, Larsen KL, Preisler L, Qvist N. Primary and secondary restorative proctocolectomy for familial adenomatous polyposis: complications and long-term bowel function. Colorectal Dis 2013; 15:436-441. [PMID: 22958269 DOI: 10.1111/codi.12020] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
AIM The aim of the study was to evaluate intra-operative difficulties, complications and long-term bowel function in polyposis patients undergoing conversion of an ileorectal anastomosis to an ileoanal pouch, compared with patients with a primary ileoanal pouch operation. METHOD A national register-based retrospective study was performed with clinical follow-up and a questionnaire on long-term bowel function. RESULTS There were 84 patients in the study: 59 (70%) had a primary pouch operation and in 25 (30%) a secondary pouch procedure was attempted. This was abandoned, in one case, leaving 24 patients who had a successful secondary restorative proctocolectomy. The median (range) follow-up was 123 (0-359) months. There were no intra-operative difficulties in the 59 primary operations, but intra-operative difficulties were reported in nine of 25 secondary operations (P < 0.001). Complications within 1 month of surgery occurred in six of 59 primary operations and in none of 24 secondary operations (P < 0.001); and late surgical complications occurred in eight of 55 primary operations and in eight of 24 secondary operations (P = 0.13). The only difference in bowel function was a lower frequency of nocturnal defaecation after secondary pouch formation (P = 0.02). CONCLUSION Reoperation with proctectomy after a previous ileorectal anastomosis and conversion to restorative proctocolectomy is feasible in polyposis patients, with morbidity and functional results similar to those seen after a primary pouch operation.
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Affiliation(s)
- S Bülow
- The Danish Polyposis Register and the Surgical Departments at Hvidovre University Hospital, Copenhagen, Denmark.
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26
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Smith JC, Schäffer MW, Ballard BR, Smoot DT, Herline AJ, Adunyah SE, M'Koma AE. Adenocarcinomas After Prophylactic Surgery For Familial Adenomatous Polyposis. ACTA ACUST UNITED AC 2013; 4:260-270. [PMID: 23875116 DOI: 10.4236/jct.2013.41033] [Citation(s) in RCA: 37] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2022]
Abstract
The incidence of familial adenomatous polyposis (FAP) is one in 7,000 to 12,000 live births. Virtually, all surgically untreated patients with FAP inevitably develop colorectal-cancer in their lifetime because they carry the adenomatous polyposis coli gene. Thus prophylactic proctocolectomy is indicated. Surgical treatment of FAP is still controversial. There are however, four surgical options: ileorectal anastomosis, restorative proctocolectomy with ileal pouch-anal anastomosis, proctocolectomy with ileostomy, and proctocolectomy with continent-ileostomy. Conventional proctocolectomy options largely lie between colectomy with ileorectal anastomosis or ileal pouch-anal anastomosis. Detractors of ileal pouch-anal anastomosis prefer ileorectal anastomosis because of better functional results and quality of life. The functional outcome of total colectomy with ileorectal anastomosis is undoubtedly far superior to that of the ileoanal pouch; however, the risk for rectal cancer is increased by 30%. Even after mucosectomy, inadvertent small mucosal residual islands remain. These residual islands carry the potential for the development of subsequent malignancy. We reviewed the literature (1975-2012) on the incidence, nature, and possible etiology of subsequent ileal-pouch and anal transit zone adenocarcinoma after prophylactic surgery procedure for FAP. To date there are 24 studies reporting 92 pouch-related cancers; 15 case reports, 4 prospective and 5 retrospective studies. Twenty three of 92 cancers (25%) developed in the pouch mucosa and 69 (75%) in anal transit zone (ATZ). Current recommendation for pouch surveillance and treatment are presented. Data suggest lifetime surveillance of these patients.
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Affiliation(s)
- Joan C Smith
- Laboratory of Inflammatory Bowel Disease Research, Division of Biomedical Sciences, Department of Biochemistry and Cancer Biology, Meharry Medical College School of Medicine, Nashville, Tennessee
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Abstract
AIM In familial adenomatous polyposis, a restorative proctocolectomy with an ileo-anal pouch may be performed either with a mucosectomy and a hand-sewn anastomosis or as a stapled anastomosis without a mucosectomy. The disadvantage of the former is suboptimal bowel function and the disadvantage of the latter is a high risk of recurrent adenomas in the rectal mucosal remnant. METHOD A procedure is presented that combines the advantages of mucosectomy and stapled ileo-anal anastomosis. RESULTS No severe complications were seen in 14 patients. After a median follow up of 29 (range 7-144) months, 13 (93%) patients were fully continent day and night with a median frequency of defecation of 5 (range 2-8)/24 h. No adenomas were found at the annual endoscopic follow up. CONCLUSION Mucosectomy with a stapled ileo-anal pouch has few complications. Short-term results show good function and a very low risk of recurrent adenoma development.
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Affiliation(s)
- S Bülow
- The Danish Polyposis Register, Department of Surgery, Hvidovre University Hospital, Copenhagen, Denmark.
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Evaluation of guidelines for management of familial adenomatous polyposis in a multicenter pediatric cohort. J Pediatr Gastroenterol Nutr 2011; 53:296-302. [PMID: 21865978 DOI: 10.1097/mpg.0b013e3182198f4d] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
OBJECTIVE To retrospectively assess, in a pediatric multicenter cohort, guidelines for the management of familial adenomatous polyposis (FAP). METHODS Ten centers from the French-speaking Pediatric Gastroenterology Hepatology and Nutrition Group provided follow-up data on patients up to 18 years of age. Clinical records, genetic test results, endoscopy with histopathology examination, and therapeutic modalities were reviewed. RESULTS A total of 70 children from 47 families were included. When initial consultation resulted from a surveillance program because of an affected family member, 12 of 59 children were already symptomatic. Among 11 patients whose initial consultation was based only on symptoms, families were unaware at the time of a familial FAP history for 7 children, whereas only 4 cases were sporadic. A panel of 27 different pathogenic adenomatous polyposis coli (APC) germ-line mutations and large genomic deletions were identified in 43 families. Extracolonic manifestations were found in half of the patients. As part of the standard practice for initial screening, the entire cohort underwent colonoscopy, which revealed adenoma above an intact rectosigmoid in 8 cases. Prophylactic colectomy was performed in 42 cases; high-grade dysplastic adenoma and 1 invasive carcinoma were detected in 6 children. For timing of surgery, indications were in accordance with recent international guidelines. CONCLUSIONS Defining optimal screening and therapeutic modalities in pediatric FAP cohorts is a challenge. Specific advice for genetic screening, endoscopy surveillance, and type of surgery based on recent guidelines is recommended.
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Carmichael JC, Mills S. Surgical Management of Familial Adenomatous Polyposis. SEMINARS IN COLON AND RECTAL SURGERY 2011. [DOI: 10.1053/j.scrs.2010.12.010] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
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Power DG, Gloglowski E, Lipkin SM. Clinical genetics of hereditary colorectal cancer. Hematol Oncol Clin North Am 2011; 24:837-59. [PMID: 20816577 DOI: 10.1016/j.hoc.2010.06.006] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/24/2022]
Abstract
Colorectal cancer (CRC) is a common disease, and approximately 25% of patients have a familial component. High-penetrance singlegene germline mutations conferring a true hereditary susceptibility account for around 5% to 6% of all cases. Lynch syndrome is the most common hereditary form of colorectal cancer. Much of the hereditary component in the remaining familial cases of CRC is likely polygenic, and many of the genetic changes involved are as yet unidentified. This article addresses the most clinically important CRC genetic syndromes.
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Affiliation(s)
- Derek G Power
- Clinical Genetics, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA
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31
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Knudsen AL, Bülow S, Tomlinson I, Möslein G, Heinimann K, Christensen IJ. Attenuated familial adenomatous polyposis: results from an international collaborative study. Colorectal Dis 2010; 12:e243-9. [PMID: 20105204 DOI: 10.1111/j.1463-1318.2010.02218.x] [Citation(s) in RCA: 55] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]
Abstract
AIM The study aimed to describe genetical and clinical features of attenuated familial adenomatous polyposis (AFAP) and to propose clinical criteria and guidelines for treatment and surveillance. METHOD A questionnaire study was carried out of polyposis registries with data on patients with presumed AFAP, defined as having ≤ 100 colorectal adenomas at age ≥ 25. RESULTS One hundred and ninety-six patients were included. The median number of adenomas was 25 (0-100) with a uniform distribution of colorectal adenomas and carcinomas (CRC). Age at CRC diagnosis was delayed by 15 years compared with classic FAP. Eighty-two patients had a colectomy and an ileorectal anastomosis and 5/82 (6%) had a secondary proctectomy. The location of the mutation in the APC gene was known in 69/171 (40%) tested patients. Only 15/29 (52%) of mutations in APC were found in parts of the gene usually associated with AFAP (the 5' end, exon 9 and 3' end). CONCLUSIONS A subset of FAP patients with a milder phenotype does exist and treatment and surveillance had to be modified accordingly. The mutation detection rate is lower than in classic FAP and mutations in AFAP patients are located throughout the APC gene. We propose the following clinical diagnostic criteria for AFAP: a dominant mode of inheritance of colorectal adenomatosis and <100 colorectal adenomas at age 25 or older. Colonoscopy had to be preferred to sigmoidoscopy and surveillance had to be life-long. In the majority of patients, prophylactic colectomy and ileorectal anastomosis are recommended at the age of 20-25 years.
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Affiliation(s)
- A L Knudsen
- Danish Polyposis Register, Department of Surgical Gastroenterology, Hvidovre University Hospital, Hvidovre, Denmark
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Jatoi I, Benson JR, Liau SS, Chen Y, Cisco RM, Norton JA, Moley JF, Khalifeh KW, Choti MA. The role of surgery in cancer prevention. Curr Probl Surg 2010; 47:750-830. [PMID: 20816140 DOI: 10.1067/j.cpsurg.2010.06.002] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
Affiliation(s)
- Ismail Jatoi
- Division of Surgical Oncology, University of Texas Health Sciences Center, San Antonio, Texas, USA
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Sinha A, Tekkis PP, Rashid S, Phillips RKS, Clark SK. Risk factors for secondary proctectomy in patients with familial adenomatous polyposis. Br J Surg 2010; 97:1710-5. [DOI: 10.1002/bjs.7202] [Citation(s) in RCA: 32] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/28/2023]
Abstract
Abstract
Background
Colectomy and ileorectal anastomosis (IRA) or restorative proctocolectomy are performed for prophylaxis in familial adenomatous polyposis (FAP). After IRA patients may require secondary proctectomy for worsening polyposis or rectal cancer. Outcomes after IRA were evaluated and risk factors predictive of progressive rectal disease identified.
Methods
Parametric survival analysis was used to identify predictors of progressive rectal disease in all patients undergoing an IRA for FAP at a single centre. Hazard ratios (HRs) were calculated for phenotype, genotype, sex, age at surgery and presence of colonic cancer.
Results
Of 427 patients who underwent IRA, 48 (11·2 per cent) developed rectal cancer and 77 (18·0 per cent) required proctectomy for worsening polyposis over a median follow-up of 15 (range 7–25) years. By the age of 60 years half of the patients retained their rectum. Rectal polyp count exceeding 20 (HR 30·99, 95 per cent confidence interval 9·57 to 100·32; P < 0·001), APC mutation codon 1250–1450 (HR 3·91, 1·45 to 10·51; P = 0·007), colonic polyp count 500 or more (HR 2·18, 1·24 to 3·82; P = 0·006) and age less than 25 years at the time of surgery (HR 1·99, 1·17 to 3·37; P = 0·011) were independent predictors of progressive rectal disease.
Conclusion
The risk of proctectomy after IRA for FAP is based on patient genotype, phenotype and age at surgery.
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Affiliation(s)
- A Sinha
- Polyposis Registry, St Mark's Hospital and Imperial College, Harrow, UK
| | - P P Tekkis
- Department of Surgery, Imperial College and the Royal Marsden Hospital, London, UK
| | - S Rashid
- Polyposis Registry, St Mark's Hospital and Imperial College, Harrow, UK
| | - R K S Phillips
- Polyposis Registry, St Mark's Hospital and Imperial College, Harrow, UK
| | - S K Clark
- Polyposis Registry, St Mark's Hospital and Imperial College, Harrow, UK
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Abstract
Colorectal cancer is one of the major causes of cancer deaths in both men and women. It is estimated that 5 to 10% of patients with colorectal cancer have an inherited germline mutation that predisposes them to cancer. Hereditary colorectal cancer syndromes can be divided into those associated with colonic polyposis - familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (aFAP), and MYH associated polyposis (MAP), and those not associated with colonic polyposis - hereditary nonpolyposis colon cancer (HNPCC). The hereditary polyposes are usually easier to diagnose than HNPCC, but their higher penetrance and variable phenotype pose some difficult problems in management and surveillance. The timing and type of surgical intervention, the management of desmoid risk, the treatment of rectal or pouch neoplasia, and the management of duodenal neoplasia are all questions that must be addressed in patients with FAP or MAP.
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Affiliation(s)
- C Neal Ellis
- Department of Surgery, University of South Alabama College of Medicine, Mobile, AL 36617, USA. nellis@ usouthal.edu
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35
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Alfaro I, Ocaña T, Castells A, Cordero C, Ponce M, Ramón Y Cajal T, Andreu M, Bujanda L, Herráiz M, Hervás Molina AJ, Fernández-Bañares F, Riestra-Menéndez S, Gargallo C, Ruiz A, Bustamante M, Blanco I, Martínez de Juan F. [Characteristics of patients with familial adenomatous polyposis in Spain. First results of the Spanish Registry of Familial Adenomatous Polyposis]. Med Clin (Barc) 2010; 135:103-108. [PMID: 20466390 DOI: 10.1016/j.medcli.2009.09.054] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/22/2009] [Revised: 08/28/2009] [Accepted: 09/15/2009] [Indexed: 01/15/2023]
Abstract
BACKGROUND AND OBJECTIVES Familial adenomatous polyposis is an inherited disorder characterized by the presence of multiple colorectal adenomas (more than 100 in the classic form and between 10 and 100 in the attenuated one), with a high risk of colorectal cancer development. To improve the diagnostic and therapeutic management of these patients, the Spanish Registry of Familial Adenomatous Polyposis was created in 2007.We aimed to evaluate the clinicopathological characteristics of patients with familial adenomatous polyposis in Spain. PATIENTS AND METHODS All patients included in the Registry during one year were evaluated with respect to their demographic, clinical, pathological, and genetic characteristics. RESULTS 243 patients of 156 unrelated families from 15 Spanish centers were included. One hundred thirty patients were male, and the mean age at diagnosis was 40 years. According to the clinical presentation, 127 corresponded to the classic form and 116 to the attenuated one. Colorectal adenoma with high-grade dysplasia was identified in 67 (28%) patients, and colorectal cancer in 42 (17%). Extracolonic manifestations were: duodenal involvement (n=46), gastric involvement (n=44), desmoid tumors (n=24), thyroid cancer (n=8), osteomas (n=6) and brain tumor (n=1). APC and/or MYH gene testing was performed in 140 (90%) families, detecting the causative mutation in 75 (54%) of them (70 in the APC gene and 5 in the MYH gene). CONCLUSIONS During its first year of operability, a large number of patients and families were included in the Registry. The reduced prevalence of colorectal cancer as well as the large proportion of families submitted to gene testing demonstrated a high-quality clinical practice in Spain.
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Affiliation(s)
- Ignacio Alfaro
- Servicio de Gastroenterología, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBEREHD), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain
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Yamaguchi T, Yamamoto S, Fujita S, Akasu T, Moriya Y. Long-term outcome of metachronous rectal cancer following ileorectal anastomosis for familial adenomatous polyposis. J Gastrointest Surg 2010; 14:500-5. [PMID: 19937474 DOI: 10.1007/s11605-009-1105-2] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/19/2009] [Accepted: 11/09/2009] [Indexed: 02/06/2023]
Abstract
BACKGROUND Total colectomy with ileorectal anastomosis (IRA) for familial adenomatous polyposis (FAP) carries a potential risk of metachronous cancer in the residual rectum. This study evaluated the risk of cancer development in the residual rectum. METHODS Ninety-six patients who underwent initial surgery for prevention and cure of FAP were studied, and a clinicopathologic comparison was conducted between 59 patients who underwent IRA and 24 who underwent total proctocolectomy. RESULTS The 5-year overall survival rates were 94% after IRA and 95% after total proctocolectomy with no significant difference. The incidence of dense-type rectal polyps (4/17, 24%) was significantly higher in patients who developed metachronous rectal cancer following IRA compared to that in patients who did not (1/39, 3%). Moreover, 60% of patients with dense-type colon polyps developed metachronous rectal cancer compared to 24% in patients without and 80% of those with dense type rectal polyps developed metachronous rectal cancer compared to 25% without. Endoscopic surveillance of the eight Tis or T1 patients was performed at intervals of 6 months to 1 year after IRA but was not performed in three T3 patients for more than 2 years. CONCLUSIONS Effective IRA requires selection of patients without invasive rectal cancer and without dense rectal polyps in whom long-term postoperative follow-up of the residual rectum is possible.
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Affiliation(s)
- Tomohiro Yamaguchi
- Colorectal Surgery Division, National Cancer Center Hospital, Chuo-ku, Tokyo, Japan
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Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis 2009; 4:22. [PMID: 19822006 PMCID: PMC2772987 DOI: 10.1186/1750-1172-4-22] [Citation(s) in RCA: 364] [Impact Index Per Article: 22.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/18/2009] [Accepted: 10/12/2009] [Indexed: 02/06/2023] Open
Abstract
Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system). A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC) gene. Most patients (~70%) have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP), which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform). Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program.
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Affiliation(s)
- Elizabeth Half
- Familial Cancer Clinic, Gastroenterology Dept, Meir Hospital, Kfar Saba, Israel.
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Prevalence of adenomas and carcinomas in the ileal pouch after proctocolectomy in patients with familial adenomatous polyposis. J Gastrointest Surg 2009; 13:1266-73. [PMID: 19333660 DOI: 10.1007/s11605-009-0871-1] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/07/2008] [Accepted: 03/06/2009] [Indexed: 02/06/2023]
Abstract
PURPOSE Restorative proctocolectomy has become the most common surgical option for patients with familial adenomatous polyposis (FAP). However, adenomas may develop in the ileal pouch mucosa over time, and even carcinoma in the pouch has been reported. Our aim was to evaluate the prevalence, nature, and etiology of ileal pouch and nonpouch adenomas and carcinoma in patients with FAP. PATIENTS AND METHODS This was a retrospective study of 31 FAP patients with Kock's continent ileostomy (Kock; n = 8), ileorectal anastomosis (IRA; n = 7), and ileal pouch-anal anastomosis (IPAA) (n = 16). All patients were followed with a standardized protocol including chromoendoscopy and biopsies of visible polyps in the ileal pouch and nonpouch mucosa. RESULTS Sixteen of 24 pouch patients (Kock and IPAA) developed adenomas in the ileal pouch mucosa, and all patients with IRA developed adenomas in the rectal mucosa. The prevalence of ileal adenomas was significantly higher in pouch patients than in IRA patients (P = 0.002). Only one patient with Kock showed adenoma in the prepouch area. Two cases of adenocarcinomas and one case of advanced adenoma were found in the ileal pouch mucosa. CONCLUSION Our results show a high frequency of adenomas in the ileal pouch mucosa, with evolution into carcinoma in some patients. Regular endoscopic surveillance of the pouch is recommended at a frequency similar to that for the rectal mucosa after IRA in pouch patients with FAP.
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Nieuwenhuis MH, Bülow S, Björk J, Järvinen HJ, Bülow C, Bisgaard ML, Vasen HFA. Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery. Dis Colon Rectum 2009; 52:1259-63. [PMID: 19571702 DOI: 10.1007/dcr.0b013e3181a0d33b] [Citation(s) in RCA: 39] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
PURPOSE Genetic information may help preoperatively select patients with familial adenomatous polyposis for either colectomy with ileorectal anastomosis or proctocolectomy with ileal pouch-anal anastomosis. Although complicated, the latter procedure has a low long-term risk of rectal cancer. METHODS Data were obtained from four national polyposis registries. On the basis of previously described genotype-phenotype correlations, patients were divided into three genotype groups predicting attenuated, intermediate, and severe polyposis phenotypes. Cumulative risks of secondary proctectomy and rectal cancer after primary colectomy were calculated using the Kaplan-Meier method. RESULTS Four hundred and seventy-five polyposis patients with a previous colectomy were included. Cumulative risks of secondary proctectomy 20 years after primary colectomy were 10%, 39%, and 61% in the attenuated, intermediate, and severe genotype groups, respectively (P < 0.05, groups compared separately). Cumulative risks of rectal cancer after primary colectomy were 3.7%, 9.3%, and 8.3%, respectively, in the three groups (P > 0.05, groups compared separately). CONCLUSION Mutation analysis may be used to predict the risk of secondary proctectomy after primary colectomy in familial adenomatous polyposis. Patients with severe genotypes have a high risk of reoperation after primary colectomy and will benefit from primary proctocolectomy with ileal pouch-anal anastomosis. The risk of rectal cancer after primary colectomy was not significantly different between the three groups.
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Affiliation(s)
- Marry H Nieuwenhuis
- The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands. m.nieuwenhuis.stoet.nl
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Averboukh F, Kariv Y. Ileal Pouch Rectal Anastomosis: Technique, Indications, and Outcomes. SEMINARS IN COLON AND RECTAL SURGERY 2009. [DOI: 10.1053/j.scrs.2009.05.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
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[Should total colectomy be recommended in patients with attenuated familial polyposis?]. GASTROENTEROLOGIA Y HEPATOLOGIA 2009; 32:116-7. [PMID: 19231685 DOI: 10.1016/j.gastrohep.2008.05.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Received: 04/24/2008] [Accepted: 05/22/2008] [Indexed: 11/20/2022]
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Abstract
One of the main challenges in the clinical management of familial colorectal cancer (CRC) remains the overlap of syndromes with different underlying genetic causes and the differentiated risk management of colorectal and associated malignancies. The Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC) is characterized by the development of colorectal, endometrial, gastric and other cancers and is caused by a mutation in one of the mismatch repair (MMR) genes. Microsatellite instability (MSI) and/or immunohistochemistry (IHC) are important prognostic factors and may predict the response to chemotherapy. Familial adenomatous polyposis (FAP) may be seen as a counterpart to Lynch syndrome, responsible for <1% of all CRC cases. Recently the MUTYH gene has been identified as a further polyposis gene. The associated disorder has been termed MYH-associated polyposis (MAP) and displays an autosomal recessive pattern of inheritance. For clinical management, distinguishing between Lynch syndrome, attenuated FAP and MAP is important for risk assessment, surveillance recommendations and indication for prophylactic surgery.
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Lefevre JH, Parc Y, Svrcek M, Kernéis S, Colas C, Shields C, Flejou JF, Parc R, Tiret E. APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. Ann Surg Oncol 2009; 16:871-7. [PMID: 19169759 DOI: 10.1245/s10434-008-0297-0] [Citation(s) in RCA: 25] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/04/2008] [Revised: 11/06/2008] [Accepted: 11/07/2008] [Indexed: 12/16/2022]
Abstract
BACKGROUND Familial adenomatous polyposis (FAP) has been divided into two entities: classical (CFAP) and attenuated (AFAP). With the discovery of MYH associated polyposis (MAP) syndrome, the clinical differences have become unclear. The aim of our study was to investigate patients with polyposis treated in our institution for a correlation between genotype and phenotype. METHODS Between 1978 and 2007, 515 patients were followed. Four groups were identified: AFAP, CFAP, MAP, and no-mutation patients. Clinical, surgical, histological, and genetic data of patients were collected and compared. Two ranges of mutations responsible for AFAP were used. RESULTS Patient breakdown was CFAP patients (n = 322/294), AFAP patients (n = 13/41), MYH patients (n = 17) and no-mut patients (n = 32). Patients not tested for APC mutation (n = 131) were excluded. Genotype/phenotype evaluation showed no difference in the number or location of polyps, age at colectomy, presence of cancer, or duodenal polyps. Major differences were found for MYH patients: later age at diagnosis, more cancers, fewer polyps, and more located in the right part of the colon. For phenotype/genotype correlation, patients aged more than 35 years at the time of colectomy and with fewer than 100 polyps had significantly more mutation found on MYH. CONCLUSIONS This two-way analysis did not show any correlation that might help to identify a subgroup of patients with APC mutation that may be considered attenuated. It is more likely that the MAP syndrome is the real AFAP.
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Affiliation(s)
- Jérémie H Lefevre
- Department of Digestive Surgery, Hopital Saint-Antoine, University Paris VII Pierre & Marie Curie, Paris, France.
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Pezzi A, Roncucci L, Benatti P, Sassatelli R, Varesco L, Di Gregorio C, Venesio T, Pedroni M, Maffei S, Reggiani Bonetti L, Borsi E, Ferrari M, Martella P, Rossi G, Ponz De Leon M. Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis. Scand J Gastroenterol 2009; 44:1092-1100. [PMID: 19593690 DOI: 10.1080/00365520903100481] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
OBJECTIVE Familial adenomatous polyposis (FAP) is an interesting model for the study of colorectal tumour. Two genes contribute to the FAP phenotype - APC and MUTYH - but their relative role is still undefined. The objective of this study was to evaluate the contribution of the two genes to the pathogenesis of FAP by means of a series of FAP families. MATERIAL AND METHODS Sixty-one unrelated families with a diagnosis of FAP and a total of 187 affected individuals were evaluated. After extracting DNA, APC and MUTYH genes were sequenced. RESULTS In the whole series of patients, colectomy with ileorectal anastomosis was the most frequent surgery, although the number of patients treated by total proctocolectomy and ileoanal anastomosis was increasing. Duodenal and jejunal-ileal adenomas were present in more than half of the patients. Constitutional mutations were detected in 37 of the 45 families (82.2%); there were 33 families with APC and 4 with MUTYH alterations. Age at onset of polyposis and age at surgery were 10-15 years delayed for carriers of MUTYH mutations; cancer at diagnosis was frequent, and extracolonic manifestations were diagnosed in the majority of MUTYH-positive families. MUTYH-associated polyposis showed the horizontal transmission expected for recessive inheritance (at variance with the dominant pattern seen with APC mutations). CONCLUSIONS At least two genes are associated with the FAP phenotype. APC mutations account for the majority of cases, while MUTYH mutations can be observed in 10% of patients. There are few but definite differences between APC- and MUTYH-associated FAP, such as age at diagnosis and pattern of transmission.
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Affiliation(s)
- Annalisa Pezzi
- Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy
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Al-Sukhni W, Aronson M, Gallinger S. Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome. Surg Clin North Am 2008; 88:819-44, vii. [PMID: 18672142 DOI: 10.1016/j.suc.2008.04.012] [Citation(s) in RCA: 42] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/26/2022]
Abstract
Familial colorectal cancer (CRC) accounts for 10% to 20% of all cases of CRC. Two major autosomal dominant forms of heritable CRC are familial adenomatous polyposis (FAP) and Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer). Along with the risk for CRC, both syndromes are associated with elevated risk for other tumors. Improved understanding of the genetic basis of these diseases has not only facilitated the identification and screening of at-risk individuals and the development of prophylactic or early-stage intervention strategies but also provided better insight into sporadic CRC. This article reviews the clinical and genetic characteristics of FAP and Lynch syndrome, recommended screening and surveillance practices, and appropriate surgical and nonsurgical interventions.
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Affiliation(s)
- Wigdan Al-Sukhni
- Division of General Surgery, Department of Surgery, University of Toronto, 1225-600 University Avenue, Toronto, Ontario, Canada M5G 1X5.
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Biancone L, Calabrese E, Palmieri G, Petruzziello C, Onali S, Sica GS, Cossignani M, Condino G, Das KM, Pallone F. Ileal lesions in patients with ulcerative colitis after ileo-rectal anastomosis: relationship with colonic metaplasia. World J Gastroenterol 2008; 14:5290-5300. [PMID: 18785281 PMCID: PMC2744059 DOI: 10.3748/wjg.14.5290] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/02/2008] [Revised: 06/20/2008] [Accepted: 06/27/2008] [Indexed: 02/06/2023] Open
Abstract
AIM To assess whether in ulcerative colitis (UC) patients with ileo-rectal anastomosis (IRA), ileal lesions may develop in the neo-terminal-ileum and their possible relation with phenotypic changes towards colonic epithelium. METHODS A total of 19 patients with IRA under regular follow up were enrolled, including 11 UC and 8 controls (6 Crohn's disease, CD; 1 familial adenomatous polyposis, FAP; 1 colon cancer, colon K). Ileal lesions were identified by ileoscopy with biopsies taken from the ileum (involved and uninvolved) and from the rectal stump. Staining included HE and immunohistochemistry using monoclonal antibodies against colonic epithelial protein CEP (Das-1) and human tropomyosin isoform 5, hTM5 (CG3). Possible relation between development of colonic metaplasia and ileal lesions was investigated. RESULTS Stenosing adenocarcinoma of the rectal stump was detected in 1 UC patient. The neo-terminal ileum was therefore investigated in 10/11 UC patients. Ileal ulcers were detected in 7/10 UC, associated with colonic metaplasia in 4/7 (57.1%) and Das-1 and CG3 reactivity in 3/4 UC. In controls, recurrence occurred in 4/6 CD, associated with colonic metaplasia in 3/4 and reactivity with Das-1 and CG3 in 2/3. CONCLUSION Present findings suggest that in UC, ileal lesions associated with changes towards colonic epithelium may develop also after IRA. Changes of the ileal content after colectomy may contribute to the development of colonic metaplasia, leading to ileal lesions both in the pouch and in the neo-terminal ileum after IRA.
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Bülow S, Bülow C, Vasen H, Järvinen H, Björk J, Christensen IJ. Colectomy and ileorectal anastomosis is still an option for selected patients with familial adenomatous polyposis. Dis Colon Rectum 2008; 51:1318-23. [PMID: 18523824 DOI: 10.1007/s10350-008-9307-3] [Citation(s) in RCA: 41] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/17/2007] [Revised: 12/03/2007] [Accepted: 12/19/2007] [Indexed: 12/15/2022]
Abstract
PURPOSE The risk of rectal cancer after colectomy and ileorectal anastomosis may be reduced in the last decades, as patients with severe polyposis now have an ileoanal pouch. We have reevaluated the risk of rectal cancer and proctectomy for all causes according to the year of operation. METHODS On the basis of the year of operation in 776 patients with ileorectal anastomosis and 471 pouch patients in Denmark, Finland, Holland, and Sweden, the "pouch period" was defined to start in 1990. Ileorectal anastomosis follow-up data was captured by May 31, 2006. The cumulative risk of rectal cancer and proctectomy was compared before and after 1990 by Kaplan-Meier analysis. RESULTS In the prepouch period 56/576 patients (10 percent) developed rectal cancer, vs. 4/200 (2 percent) in the pouch period. Neither the cumulative risk of rectal cancer (p = 0.07) nor the cumulative risk of proctectomy (p = 0.17) changed. However, in females the cumulative risk of rectal cancer (p = 0.04) and of proctectomy (p = 0.03) were lower in the pouch period. CONCLUSIONS Since the introduction of the ileoanal pouch rectal cancer has decreased after ileorectal anastomosis, but only statistically significant in females. This indicates that ileorectal anastomosis may still be justified in selected patients with mild adenomatosis, especially in young females.
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Affiliation(s)
- Steffen Bülow
- The Danish Polyposis Register, Hvidovre University Hospital, Copenhagen, Denmark.
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Will OCC, Man RF, Phillips RKS, Tomlinson IP, Clark SK. Familial adenomatous polyposis and the small bowel: a loco-regional review and current management strategies. Pathol Res Pract 2008; 204:449-58. [PMID: 18538945 DOI: 10.1016/j.prp.2008.03.002] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
Small-bowel tumours are an important cause of morbidity and death in patients with familial adenomatous polyposis. Intensive endoscopic surveillance is now standard in the long-term management of this condition. Thus, lesions occurring throughout the small bowel are increasingly noted by oesophagogastroduodenoscopy and flexible pouchoscopy. Some occur commonly de novo (in stomach, duodenum and ampulla), while others may occur following surgery (polyps of the ileostomy, ileoanal pouch, or small bowel above an anastomosis). These differ widely in incidence, natural history and management. This review provides a regional overview of these lesions, in terms of current research findings and management protocols.
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Affiliation(s)
- O C C Will
- The Polyposis Registry, St Mark's Hospital, London, UK.
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Will OCC, Robinson J, Günther T, Phillips RKS, Clark SK, Tomlinson I. APC mutation spectrum in ileoanal pouch polyps resembles that of colorectal polyps. Br J Surg 2008; 95:765-9. [PMID: 18418860 DOI: 10.1002/bjs.6110] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/05/2023]
Abstract
BACKGROUND Ileoanal pouch polyps commonly develop following restorative proctocolectomy in patients with familial adenomatous polyposis (FAP). In FAP adenomas, the relationship between germline and somatic adenomatous polyposis coli (APC) mutations is determined by 'just right' beta-catenin signalling in tumour cells, with respect to the 20-amino acid beta-catenin-binding/degradation repeats (20AARs) in the APC protein. However, the relationship varies, with upper gastrointestinal polyps typically retaining three to four 20AARs and colonic polyps retaining one or two. The aim of this study was to establish the mutational spectrum in ileoanal pouch polyps, to ascertain whether polyp development resembled that typical of small or large bowel. METHODS Some 151 pouch adenomas were screened from 46 patients with known germline APC mutations for 'second hits' acquired through loss of heterozygosity and truncating mutations. The number of 20AARs remaining after the 'second hit' was calculated. RESULTS Loss of heterozygosity was rare in pouch polyps except when the germline mutation left one 20AAR. Overall, the combined alleles left two to three 20AARs in 40 of 51 polyps with an identified 'second hit'. This was significantly fewer than in upper gastrointestinal polyps, and more than in colorectal adenomas. CONCLUSION Tissue environment appears to influence the position of the 'second hit' in pouch polyps and the mutations resemble those of large bowel polyps.
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Affiliation(s)
- O C C Will
- Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London, UK.
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von Roon AC, Tekkis PP, Lovegrove RE, Neale KF, Phillips RKS, Clark SK. Comparison of outcomes of ileal pouch-anal anastomosis for familial adenomatous polyposis with and without previous ileorectal anastomosis. Br J Surg 2008; 95:494-8. [PMID: 18161901 DOI: 10.1002/bjs.6005] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022]
Abstract
BACKGROUND It is reported that previous colectomy and ileorectal anastomosis (IRA) has no effect on postoperative complications and functional outcomes of secondary proctectomy and ileal pouch-anal anastomosis (IPAA) in patients with familial adenomatous polyposis (FAP). This retrospective study re-examined the question in a single centre. METHODS Some 185 patients were grouped by either IPAA as the initial prophylactic surgical procedure (primary IPAA) or IPAA preceded by IRA (secondary IPAA). Data on functional outcomes were available for 104, 83 and 56 patients at years 1, 5 and 10 respectively. RESULTS The 78 patients who had secondary IPAA were older at the time of operation than the 107 who underwent primary IPAA (35.7 versus 29.2 years; P < 0.001). Six (8 per cent) of the secondary IPAA procedures could not be completed. Otherwise, apart from more wound infections in the secondary IPAA group (9 versus 0.9 per cent in the primary IPAA group; P = 0.012), there were no significant differences in rates of complications, functional outcomes, desmoid disease or pouch failure. CONCLUSION Conversion from IRA to IPAA may not be possible in patients with FAP. Where conversion is successful, pouch outcomes are similar but wound infections are more frequent.
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Affiliation(s)
- A C von Roon
- The Polyposis Registry and Department of Surgery, St Mark's Hospital, Harrow, London, UK
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