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Lauricella S, Rausa E, Pellegrini I, Ricci MT, Signoroni S, Palassini E, Cavalcoli F, Pasanisi P, Colombo C, Vitellaro M. Current management of familial adenomatous polyposis. Expert Rev Anticancer Ther 2024; 24:363-377. [PMID: 38785081 DOI: 10.1080/14737140.2024.2344649] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/01/2023] [Accepted: 04/15/2024] [Indexed: 05/25/2024]
Abstract
INTRODUCTION APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated polyposis need to be managed by specialized multidisciplinary teams in dedicated centers. AREAS COVERED The study aimed to review the literature on Familial adenomatous polyposis (FAP) to provide an update on diagnostic and surgical management while focusing on strategies to minimize the risk of desmoid-type fibromatosis, cancer in anorectal remnant, and postoperative complications. FAP individuals require a comprehensive approach that includes diagnosis, surveillance, preventive surgery, and addressing specific extracolonic concerns such as duodenal and desmoid tumors. Management should be personalized considering all factors: genotype, phenotype, and personal needs. Total colectomy and ileo-rectal anastomosis have been shown to yield superior QoL results when compared to Restorative Procto colectomy and ileopouch-anal anastomosis with acceptable oncological risk of developing cancer in the rectal stump if patients rigorously adhere to lifelong endoscopic surveillance. Additionally, a low-inflammatory diet may prevent adenomas and cancer by modulating systemic and tissue inflammatory indices. EXPERT OPINION FAP management requires a multidisciplinary and personalized approach. Integrating genetic advances, innovative surveillance techniques, and emerging therapeutic modalities will contribute to improving outcomes and quality of life for FAP individuals.
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Affiliation(s)
- Sara Lauricella
- Hereditary Digestive Tract Tumors Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Emanuele Rausa
- Hereditary Digestive Tract Tumors Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Ilaria Pellegrini
- Medical Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Maria Teresa Ricci
- Hereditary Digestive Tract Tumors Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Stefano Signoroni
- Hereditary Digestive Tract Tumors Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Elena Palassini
- Medical Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Federica Cavalcoli
- Gastroenterology and Digestive Endoscopy Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Patrizia Pasanisi
- Nutrition Research and Metabolomics Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Chiara Colombo
- Sarcoma Surgery Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
| | - Marco Vitellaro
- Hereditary Digestive Tract Tumors Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
- Colorectal Surgery Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy
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Gavric A, Sanchez LR, Brunori A, Bravo R, Balaguer F, Pellisé M. Endoscopic management of patients with familial adenomatous polyposis after prophylactic colectomy or restorative proctocolectomy - systematic review of the literature. Radiol Oncol 2024; 58:153-169. [PMID: 38860690 PMCID: PMC11202397 DOI: 10.2478/raon-2024-0029] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/06/2024] [Accepted: 04/16/2024] [Indexed: 06/12/2024] Open
Abstract
BACKGROUND Patients with familial adenomatous polyposis (FAP) develop early colorectal adenomas and if left untreated, progression to cancer is an inevitable event. Prophylactic surgery does not prevent further development of cancer in the rectal remnant, rectal cuff in patients with ileal pouch anal anastomosis (IPAA) and even on the ileal mucosa of the pouch body. The aim of this review is to assess long-term rates of cancer and adenoma development in patients with FAP after prophylactic surgery and to summarise current recommendations for endoscopic management and surveillance of these patients. MATERIALS AND METHODS A systematic literature search of studies from January 1946 through to June 2023 was conducted using the PRISMA checklist. The electronic database PubMed was searched. RESULTS Fifty-four papers involving 5010 patients were reviewed. Cancer rate in the rectal remnant was 8.8-16.7% in the western population and 37% in the eastern population. The cumulative risk of cancer 30 years after surgery was 24%. Mortality due to cancer in the rectal remnant is 1.1-11.1% with a 5-year survival rate of 55%. The adenoma rate after primary IPAA was 9.4-85% with a cumulative risk of 85% 20 years after surgery and a cumulative risk of 12% for advanced adenomas 10 years after surgery. Cumulative risk for adenomas after ileorectal anastomosis (IRA) was 85% after 5 and 100% after 10 years. Adenomas developed more frequently after stapled (33.9-57%) compared to hand-sewn (0-33%) anastomosis. We identified reports of 45 cancers in patients after IPAA of which 30 were in the pouch body and 15 in the rectal cuff or at the anastomosis. CONCLUSIONS There was a significant incidence of cancer and adenomas in the rectal remnant and ileal pouch of FAP patients during the long-term follow-up. Regular endoscopic surveillance is recommended, not only in IRA patients, but also in pouch patients after proctocolectomy.
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Affiliation(s)
- Aleksandar Gavric
- Department of Gastroenterology and Hepatology, University Medical Centre Ljubljana, Slovenia
| | - Liseth Rivero Sanchez
- Department of Gastroenterology, Hospital Clinic de Barcelona, Barcelona, Spain
- Institut d’Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain
- Center for Biomedical Research in the Hepatic and Digestive Diseases Network (CIBERehd), Barcelona, Spain
| | - Angelo Brunori
- Department of Gastroenterology, Hospital Clinic de Barcelona, Barcelona, Spain
- Institut d’Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain
- Center for Biomedical Research in the Hepatic and Digestive Diseases Network (CIBERehd), Barcelona, Spain
| | - Raquel Bravo
- Institut d’Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain
- Center for Biomedical Research in the Hepatic and Digestive Diseases Network (CIBERehd), Barcelona, Spain
- Surgery Department, Hospital Clinic de Barcelona, Barcelona, Spain
| | - Francesc Balaguer
- Department of Gastroenterology, Hospital Clinic de Barcelona, Barcelona, Spain
- Institut d’Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain
- Center for Biomedical Research in the Hepatic and Digestive Diseases Network (CIBERehd), Barcelona, Spain
| | - Maria Pellisé
- Department of Gastroenterology, Hospital Clinic de Barcelona, Barcelona, Spain
- Institut d’Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain
- Center for Biomedical Research in the Hepatic and Digestive Diseases Network (CIBERehd), Barcelona, Spain
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Steinberger AE, Westfal ML, Wise PE. Surgical Decision-Making in Familial Adenomatous Polyposis. Clin Colon Rectal Surg 2024; 37:191-197. [PMID: 38617844 PMCID: PMC11007598 DOI: 10.1055/s-0043-1770732] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/16/2024]
Abstract
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder affecting patients with germline mutations of the adenomatous polyposis coli (APC) tumor suppressor gene. The surgical treatment of colorectal disease in FAP, which has the goal of colorectal cancer prevention, varies based on both patient and disease factors but can include the following: total colectomy with ileorectal anastomosis, proctocolectomy with stapled or hand-sewn ileal pouch-anal anastomosis, or total proctocolectomy with end ileostomy. The operative options and extent of resection, as well as the use of endoscopy and chemoprevention for the management of polyposis, will be discussed in detail in this article. In addition, commonly debated management decisions related to the treatment of patients with FAP, including the timing of prophylactic colorectal resections for patients with FAP and management of the polyp burden in the rectum, will be discussed. Finally, genotype considerations and the impact of desmoid disease on operative decisions in the setting of FAP will also be reviewed.
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Affiliation(s)
- Allie E. Steinberger
- Section of Colon and Rectal Surgery, Department of Surgery, Washington University in St. Louis School of Medicine, St. Louis, Missouri
| | - Maggie L. Westfal
- Section of Colon and Rectal Surgery, Department of Surgery, Washington University in St. Louis School of Medicine, St. Louis, Missouri
| | - Paul E. Wise
- Section of Colon and Rectal Surgery, Department of Surgery, Washington University in St. Louis School of Medicine, St. Louis, Missouri
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Banerjee S, Burke CA, Sommovilla J, Anderson CE, O'Malley M, LaGuardia LA, Vazquez Villasenor AC, Macaron C, Liska D. Risk of Proctectomy After Ileorectal Anastomosis in Familial Adenomatous Polyposis in the Modern Era. Dis Colon Rectum 2024; 67:427-434. [PMID: 38064246 DOI: 10.1097/dcr.0000000000003157] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/09/2024]
Abstract
BACKGROUND Prophylactic surgery for familial adenomatous polyposis has evolved over several decades. Restorative proctocolectomy with IPAA provides an alternative to total abdominal colectomy with ileorectal anastomosis. We have previously shown that the rate of proctectomy and rectal cancer after total abdominal colectomy with ileorectal anastomosis in the "pre-pouch era" was 32% and 13%, respectively. OBJECTIVE To determine the rate of proctectomy and rectal cancer among familial adenomatous polyposis patients and relative rectal sparing (fewer than 20 rectal polyps) selected for total abdominal colectomy with ileorectal anastomosis in the modern era. DESIGN Retrospective cohort study. SETTING Single tertiary care institution with a hereditary colorectal cancer registry. PATIENTS Patients with familial adenomatous polyposis who underwent total abdominal colectomy with ileorectal anastomosis between 1993 and 2020. MAIN OUTCOME MEASURES Incidence of proctectomy for any indication and rectal cancer. RESULTS A total of 197 patients with a median age of 24 years (range, 10-67) were included. The median follow-up after total abdominal colectomy with ileorectal anastomosis was 13 years (interquartile range, 6-17). Sixteen patients (8%) underwent proctectomy. Indications included rectal cancer in 6 patients (3%; 2 stage I and 4 stage III), polyps with high-grade dysplasia in 4 (2%), progressive polyp burden in 3 (1.5%), defecatory dysfunction in 2 (1%), and anastomotic leak in 1 (0.5%). Among 30 patients (18%) with 20 or more rectal polyps at the time of total abdominal colectomy with ileorectal anastomosis, 8 patients (26%) underwent proctectomy and 3 patients developed rectal cancer (10%). Among 134 patients (82%) with fewer than 20 polyps, 8 patients (6%) underwent proctectomy and 3 patients developed rectal cancer (2%). Number of rectal polyps at the time of total abdominal colectomy with ileorectal anastomosis was associated with the likelihood of proctectomy (OR 1.1, p < 0.001) but not incident rectal cancer ( p = 0.3). LIMITATION Retrospective data collection. CONCLUSIONS Patients with familial adenomatous polyposis selected for total abdominal colectomy with ileorectal anastomosis by rectal polyp number have low rates of proctectomy and rectal cancer compared to historical controls. With appropriate selection criteria and surveillance, total abdominal colectomy with ileorectal anastomosis remains an important and safe treatment option for patients with familial adenomatous polyposis. See Video Abstract . RIESGO DE PROCTECTOMA DESPUS DE ANASTOMOSIS ILEORRECTAL EN POLIPOSIS ADENOMATOSA FAMILIAR EN LA ERA MODERNA ANTECEDENTES:La cirugía profiláctica para la poliposis adenomatosa familiar (PAF) ha evolucionado durante varias décadas. La proctocolectomía restauradora con anastomosis anal con bolsa ileal (IPAA) proporciona una alternativa a la colectomía abdominal total con anastomosis ileorrectal (TAC/IRA). Anteriormente hemos demostrado que la tasa de proctectomía y cáncer de recto después de TAC/IRA en la era "pre-bolsa" era del 32% y el 13%, respectivamente.OBJETIVO:Determinar la tasa de proctectomía y cáncer de recto entre pacientes con PAF y pacientes con preservación rectal relativa (<20 pólipos rectales) seleccionados para TAC/IRA en la era moderna.DISEÑO:Estudio de cohorte retrospectivo.ÁMBITO:Institución única de atención terciaria con un registro de cáncer colorrectal hereditario.PACIENTES:Pacientes con PAF que se sometieron a TAC/IRA entre 1993 y 2020.MEDIDAS DE RESULTADO PRINCIPALES:Incidencia de proctectomía por cualquier indicación y cáncer de recto.RESULTADOS:Se incluyeron 197 pacientes con una mediana de edad de 24 años (rango 10-67). La mediana de seguimiento tras TAC/IRA fue de 13 años (RIC 6-17). 16 pacientes (8%) fueron sometidos a proctectomía. Las indicaciones incluyeron cáncer de recto en 6 (3%) (2 en estadio I y 4 en estadio III); pólipos con displasia de alto grado en 4 (2%); carga progresiva de pólipos en 3 (1,5%), disfunción defecatoria en 2 (1%); y fuga anastomótica en 1 (0,5%). Entre 30 pacientes (18%) con ≥20 pólipos rectales en el momento de TAC/IRA, 8 pacientes (26%) se sometieron a proctectomía y 3 pacientes desarrollaron cáncer de recto (10%). Entre 134 pacientes (82%) con <20 pólipos, 8 pacientes (6%) se sometieron a proctectomía y 3 pacientes desarrollaron cáncer de recto (2%). El número de pólipos rectales en el momento de TAC/IRA se asoció con la probabilidad de proctectomía (OR 1,1, p <0,001), pero no con la incidencia de cáncer de recto (p = 0,3).LIMITACIÓN:Recopilación de datos retrospectivos.CONCLUSIÓN:Los pacientes con PAF seleccionados para TAC/IRA por el número de pólipos rectales tienen tasas bajas de proctectomía y cáncer de recto en comparación con los controles históricos. Con criterios de selección y vigilancia adecuados, TAC/IRA sigue siendo una opción de tratamiento importante y segura para los pacientes con PAF. (Pre-proofed version ).
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Affiliation(s)
- Sudeep Banerjee
- Department of Colorectal Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
| | - Carol A Burke
- Department of Colorectal Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
- Department of Gastroenterology, Hepatology and Nutrition, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
| | - Joshua Sommovilla
- Department of Colorectal Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
| | - Cristan E Anderson
- Department of Colorectal Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
| | - Margaret O'Malley
- Department of Colorectal Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
| | - Lisa A LaGuardia
- Department of Colorectal Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
| | - Ana C Vazquez Villasenor
- Department of Colorectal Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
| | - Carole Macaron
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
- Department of Gastroenterology, Hepatology and Nutrition, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
| | - David Liska
- Department of Colorectal Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, Ohio
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Poylin VY, Shaffer VO, Felder SI, Goldstein LE, Goldberg JE, Kalady MF, Lightner AL, Feingold DL, Paquette IM. The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Adenomatous Polyposis Syndromes. Dis Colon Rectum 2024; 67:213-227. [PMID: 37682806 DOI: 10.1097/dcr.0000000000003072] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 09/10/2023]
Affiliation(s)
- Vitaliy Y Poylin
- Division of Gastrointestinal and Oncologic Surgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois
| | - Virginia O Shaffer
- Department of Surgery, Emory University College of Medicine, Atlanta, Georgia
| | - Seth I Felder
- Department of Surgery, Moffit Cancer Center, Tampa, Florida
| | - Lindsey E Goldstein
- Division of General Surgery, North Florida/South Georgia Veteran's Health System, Gainesville, Florida
| | - Joel E Goldberg
- Division of General and Gastrointestinal Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts
| | - Matthew F Kalady
- Division of Colon and Rectal Surgery, Ohio State University, Columbus, Ohio
| | - Amy L Lightner
- Department of Colorectal Surgery, Scripps Clinic, San Diego, California
| | - Daniel L Feingold
- Division of Colorectal Surgery, Rutgers University, New Brunswick, New Jersey
| | - Ian M Paquette
- Division of Colon and Rectal Surgery, University of Cincinnati, Cincinnati, Ohio
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Uylas U, Gundogdu R, Sumer F, Samdanci E, Kayaalp C. Incidental cancer in colectomy specimens from patients with familial adenomatous polyposis: single centre experience and literature review. Int J Colorectal Dis 2023; 38:76. [PMID: 36949302 DOI: 10.1007/s00384-023-04370-4] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 03/16/2023] [Indexed: 03/24/2023]
Abstract
BACKGROUND Since cancer development is inevitable in patients with familial adenomatous polyposis (FAP), we aimed to determine the incidence of incidental malignancy in prophylactic colectomy specimens. METHODS The files of patients who underwent prophylactic surgery for FAP between 2010 and 2020 were retrospectively reviewed. The incidence of incidental malignancy in histopathological specimens was examined and a comprehensive literature review was made. RESULTS Fifty-five patients were included in the study, of whom 30 patients had a diagnosis of primary malignancy. Prophylactic colectomy was performed on 25 patients. The pathology results indicated that the specimens were benign in 12 patients (48%) and revealed carcinoma in situ in 11 patients (44%). Incidental malignancy was detected in 2 patients (8%). In the literature review, there were 243 patients who underwent prophylactic colectomy and incidental cancer was detected in 25 patients (10.3%) with the stages of 1 (7.4%), 2 (2.1%), and 3 (0.8%), respectively. CONCLUSIONS Incidental cancer is not rare in patients who have undergone prophylactic colectomy for FAP. Hopefully. they are usually at early stages and unexpected advanced cancers are seen rarely.
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Affiliation(s)
- Ufuk Uylas
- General Surgery Department, Health Sciences University Izmir Tepecik Education and Research Hospital, Izmir, Turkey.
| | - Ramazan Gundogdu
- General Surgery Department, Baskent University Adana Dr. Turgut Noyan Training and Research Hospital, Adana, Turkey
| | - Fatih Sumer
- Gastroenterology Surgery Department, Inonu University Faculty of Medicine, Malatya, Turkey
| | - Emine Samdanci
- Pathology Department, Inonu University Faculty of Medicine, Malatya, Turkey
| | - Cuneyt Kayaalp
- Gastroenterology Surgery Department, Inonu University Faculty of Medicine, Malatya, Turkey
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Flemming S, Kelm M, Germer CT, Wiegering A. [Ileal pouch after restorative coloproctectomy]. CHIRURGIE (HEIDELBERG, GERMANY) 2022; 93:1030-1036. [PMID: 36036850 DOI: 10.1007/s00104-022-01708-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 08/02/2022] [Indexed: 06/15/2023]
Abstract
The continuous development of pouch surgery has enabled continence-preserving treatment after coloproctectomy. The ileoanal J‑pouch is nowadays the standard reconstruction after restorative coloproctectomy with excellent functional long-term results. Taking the relative contraindications and a suitable patient selection into consideration, pouch placement can be indicated not only for ulcerative colitis and familial adenomatous polyposis, but also for patients with nonfistular Crohn's disease. Due to a high treatment density with immunosuppressants, the surgical treatment regimen should be subdivided into a multistage procedure, whereby according to current data a modified two-stage procedure should be favored.
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Affiliation(s)
- S Flemming
- Klinik für Allgemein‑, Viszeral‑, Transplantations‑, Gefäß- und Kinderchirurgie, Zentrum für Operative Medizin (ZOM), Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland
| | - M Kelm
- Klinik für Allgemein‑, Viszeral‑, Transplantations‑, Gefäß- und Kinderchirurgie, Zentrum für Operative Medizin (ZOM), Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland
| | - C-T Germer
- Klinik für Allgemein‑, Viszeral‑, Transplantations‑, Gefäß- und Kinderchirurgie, Zentrum für Operative Medizin (ZOM), Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland
| | - A Wiegering
- Klinik für Allgemein‑, Viszeral‑, Transplantations‑, Gefäß- und Kinderchirurgie, Zentrum für Operative Medizin (ZOM), Universitätsklinikum Würzburg, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland.
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Hampel H, Kalady MF, Pearlman R, Stanich PP. Hereditary Colorectal Cancer. Hematol Oncol Clin North Am 2022; 36:429-447. [DOI: 10.1016/j.hoc.2022.02.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
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Aoun RJN, Kalady MF. The importance of genetics for timing and extent of surgery in inherited colorectal cancer syndromes. Surg Oncol 2022; 43:101765. [DOI: 10.1016/j.suronc.2022.101765] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/04/2022] [Accepted: 04/04/2022] [Indexed: 11/28/2022]
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Aelvoet AS, Buttitta F, Ricciardiello L, Dekker E. Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights. Best Pract Res Clin Gastroenterol 2022; 58-59:101793. [PMID: 35988966 DOI: 10.1016/j.bpg.2022.101793] [Citation(s) in RCA: 19] [Impact Index Per Article: 6.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/15/2021] [Revised: 12/21/2021] [Accepted: 03/08/2022] [Indexed: 02/07/2023]
Abstract
Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are rare inherited polyposis syndromes with a high colorectal cancer (CRC) risk. Therefore, frequent endoscopic surveillance including polypectomy of relevant premalignant lesions from a young age is warranted in patients. In FAP and less often in MAP, prophylactic colectomy is indicated followed by lifelong endoscopic surveillance of the retained rectum after (sub)total colectomy and ileal pouch after proctocolectomy to prevent CRC. No consensus is reached on the right type and timing of colectomy. As patients with FAP and MAP nowadays have an almost normal life-expectancy due to adequate treatment of colorectal polyposis, challenges in the management of FAP and MAP have shifted towards the treatment of duodenal and gastric adenomas as well as desmoid treatment in FAP. Whereas up until recently upper gastrointestinal surveillance was mostly diagnostic and patients were referred for surgery once duodenal or gastric polyposis was advanced, nowadays endoscopic treatment of premalignant lesions is widely performed. Aiming to reduce polyp burden in the colorectum as well as in the upper gastrointestinal tract, several chemopreventive agents are currently being studied.
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Affiliation(s)
- Arthur S Aelvoet
- Department of Gastroenterology and Hepatology, Amsterdam UMC, University of Amsterdam Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
| | - Francesco Buttitta
- Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola, Bologna, Italy.
| | - Luigi Ricciardiello
- Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola, Bologna, Italy.
| | - Evelien Dekker
- Department of Gastroenterology and Hepatology, Amsterdam UMC, University of Amsterdam Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
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Cunningham LA, Gasior A, Kalady MF. Management of Colorectal Cancer in Hereditary Syndromes. Surg Oncol Clin N Am 2022; 31:307-319. [DOI: 10.1016/j.soc.2021.11.010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/18/2022]
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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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13
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Stanich PP, Sullivan B, Kim AC, Kalady MF. Endoscopic Management and Surgical Considerations for Familial Adenomatous Polyposis. Gastrointest Endosc Clin N Am 2022; 32:113-130. [PMID: 34798980 DOI: 10.1016/j.giec.2021.08.007] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/04/2023]
Abstract
Familial adenomatous polyposis (FAP) is the development of many adenomatous colorectal polyps. Colonoscopy is recommended to start at age 10 to 12 years at intervals of 1 to 2 years. Colectomy is clearly indicated for malignancy or significant colorectal symptoms. After colectomy, endoscopic surveillance is still critical. Duodenal and gastric polyposis is also found in almost all patients with FAP. Screening with upper endoscopy and ampullary visualization is recommended, generally determined by age and staging of duodenal polyposis, but guidelines are increasingly factoring in ampullary and gastric manifestations. Surgical management of malignancy or advanced upper tract manifestations is needed.
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Affiliation(s)
- Peter P Stanich
- Division of Gastroenterology, Hepatology & Nutrition, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Suite 200, Columbus, OH 43210, USA.
| | - Brian Sullivan
- Division of Gastroenterology, Duke University Medical Center, 2301 Erwin Road, Durham, NC 27710, USA. https://twitter.com/gi_sullivan
| | - Alex C Kim
- Division of Surgical Oncology, The Ohio State University Wexner Medical Center, N924 Doan Hall, 410 West 10th Avenue, Columbus, OH 43210, USA. https://twitter.com/CRS_HIPEC
| | - Matthew F Kalady
- Division of Colorectal Surgery, The Ohio State University Wexner Medical Center, 737 Doan Hall, 410 West 10th Avenue, Columbus, OH 43210, USA. https://twitter.com/MattKaladyMD
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Incidence and Management of Rectal Cuff and Anal Transitional Zone Neoplasia in Patients With Familial Adenomatous Polyposis. Dis Colon Rectum 2021; 64:977-985. [PMID: 33960328 DOI: 10.1097/dcr.0000000000001967] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
BACKGROUND Rectal cuff and anal transitional zone neoplasia is an increasing challenge in patients with familial adenomatous polyposis who have undergone restorative proctocolectomy. Its real incidence, range of severity, and treatment efficacy are poorly documented. OBJECTIVE We sought to document the evolution of rectal cuff and anal transitional zone neoplasia and describe its management. DESIGN This is a retrospective cohort study collecting prospectively recorded data. SETTINGS This study involved a hereditary colorectal cancer group in a large academic medical center. PATIENTS All patients undergoing primary restorative proctocolectomy at this institution were included. INTERVENTIONS Surveillance pouchoscopy and treatment of rectal cuff/anal transitional zone neoplasia were performed. MAIN OUTCOME MEASURES The primary outcomes measured were the presence and the severity of rectal cuff/anal transitional zone neoplasia. Excision by cautery, snare, mucosectomy, or redo pouch was evaluated. RESULTS A total of 165 patients were included: 52% were male (86/165) with a median age at restorative proctocolectomy of 31.0 years (SD 12.8). In 117 of 165, the proctocolectomy was their first operation and, in 48 of 165, it followed a colectomy. Of the patients, 83% (137/165) had stapled anastomosis; 17% had mucosectomy with handsewn anastomosis; and 14% (23/165) were treated with sulindac at some point during their surveillance. Median follow-up was 10.1 years (interquartile range, 4.5-17.2) and the median number of pouchoscopies per patient was 4 (interquartile range, 2-8). Seventy-eight of 165 (47.3%) developed rectal cuff/anal transitional zone adenomas, more in the stapled group (52.3%; 72/137) than in the handsewn group (21.4%; 6/28; p < 0.005). Median time to adenoma was 4.5 years (interquartile range, 2.4-8.9). Three patients developed cancer under surveillance, and, in 3 other patients, cancers developed when screenings lapsed. Five patients developed symptomatic anal stenosis secondary to repeated surgeries (median, 9 procedures; range, 2-10). LIMITATIONS There was no quality-of-life measurement in patients who developed rectal cuff/anal transitional zone neoplasia. CONCLUSIONS Rectal cuff/anal transitional zone adenomas are more common than previously reported. Mild polyposis can be controlled endoscopically, but repeated procedures in a higher stage are associated with risk of anal stenosis. Compliance with surveillance is essential to avoid cancer. See Video Abstract at http://links.lww.com/DCR/B594. INCIDENCIA Y TRATAMIENTO DE LA NEOPLASIA DEL REMANENTE RECTAL Y DE LA ZONA DE TRANSICIN ANAL EN PACIENTES CON POLIPOSIS ADENOMATOSA FAMILIAR ANTECEDENTES:La neoplasia del remanente rectal y de la zona de transición anal presenta un desafío mayor en pacientes con poliposis adenomatosa familiar tratados con una proctocolectomía restaurativa. Su incidencia real, el espectro de la gravedad y la eficacia del tratamiento están mal documentados.OBJETIVO:Buscamos documentar la evolución de la neoplasia del remanente rectal y de la zona de transición anal y describir su tratamiento.DISEÑO:Estudio de cohorte retrospectivo que recabó datos registrados prospectivamente.AMBITO:Un grupo con cáncer colorrectal hereditario de un importante centro médico académico.PACIENTES:Todos los pacientes operados por primera vez de proctocolectomía restaurativa en nuestra institución.INTERVENCIONES:Endoscopía del pouch para vigilancia y tratamiento de la neoplasia del remanente rectal / zona de transición anal.PRINCIPALES VARIABLES ANALIZADAS:La presencia y la gravedad de la neoplasia del remanente rectal / zona de transición anal. Resección con cauterio, asa, mucosectomía o rehacer el pouch.RESULTADOS:Se incluyeron un total de 165 pacientes: 52% eran hombres (86/165) con una mediana de edad al momento de la proctocolectomía restaurativa de 31,0 años (DE 12,8). En 117/165 la proctocolectomía fue su primera cirugía y en 48/165 fue posterior a una colectomía. En 83% (137/165) tenía una anastomosis con engrapadora, 17% tenía mucosectomía y anastomosis con sutura manual (HS). El 14% de los pacientes (23/165) fueron tratados con sulindac en algún momento durante su vigilancia. La mediana de seguimiento fue de 10,1 años (IQR: 4,5, 17,2) y la mediana del número de endoscopías del pouch por paciente fue de 4. (IQR: 2, 8) 78/165 (47,3%) desarrollaron adenomas en la zona de transición anal /remanente rectal, mayor en el grupo con engrapadaora (52,3%; 72/137) comparado con el grupo con sutura manual (21,4%; 6/28) (p <0,005). La mediana del tiempo hasta el adenoma fue de 4,5 años (IQR: 2,4, 8,9). Tres pacientes que se encontraban en vigilancia desarrollaron cáncer y en 3, otros cánceres se desarrollaron transcurrida la vigilancia. 5 pacientes desarrollaron estenosis anal sintomática secundaria a múltiples cirugías (mediana de 9 procedimientos; rango 2-10).LIMITACIONES:Falta de medición de la calidad de vida en pacientes que desarrollaron neoplasia del remanente rectal / zona de transición anal.CONCLUSIONES:Los adenomas de la zona de transición anal / remanente rectal son más comunes de lo reportado anteriormente. La poliposis leve se puede tratar por endoscopía, pero procedimientos repetidos en estadíos mayores se asocian con el riesgo de estenosis anal. El apego a la vigilancia es fundamental para evitar el cáncer. Consulte Video Resumen en http://links.lww.com/DCR/B594. (Traducción-Dr. Lisbeth Alarcon-Bernes).
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Sasaki K, Nozawa H, Kawai K, Murono K, Emoto S, Kishikawa J, Ishii H, Yokoyama Y, Abe S, Nagai Y, Anzai H, Sonoda H, Taira T, Ishihara S. Risk of extracolonic malignancies and metachronous rectal cancer after colectomy and ileorectal anastomosis in familial adenomatous polyposis. Asian J Surg 2021; 45:396-400. [PMID: 34330586 DOI: 10.1016/j.asjsur.2021.06.034] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/17/2021] [Revised: 05/12/2021] [Accepted: 06/30/2021] [Indexed: 11/25/2022] Open
Abstract
BACKGROUND Analysis of long-term clinical outcomes of patients with familial adenomatous polyposis is critical in reducing or preventing the incidence of extracolonic malignancies after initial surgery. The aim of the present study was to clarify the long-term outcomes, and establish a surveillance strategy for surgically treated familial adenomatous polyposis patients. METHODS Between January 1967 and March 2020, retrospective data were collected from 37 patients with familial adenomatous polyposis treated or monitored in our department. Occurrence of metachronous cancers, including rectal cancers and extracolonic malignancies, and other diseases was analyzed. RESULTS The median follow-up duration after the first surgery was 13.8 years. Initially, 16 patients underwent total proctocolectomy with ileal pouch-anal anastomosis, 18 underwent total colectomy with ileorectal anastomosis, and three underwent other procedures. A secondary proctectomy was performed for 9 of the 18 patients who underwent ileorectal anastomosis. Rectal cancer was diagnosed in 6 patients who underwent ileorectal anastomosis. In addition, 5 gastric cancer, 2 duodenal cancer, 1 gallbladder cancer, and 1 thyroid cancer cases were diagnosed. The age at which the extracolonic malignancies were diagnosed was >50 years. 4 patients died due to metachronous rectal cancer, gastric cancer, or gallbladder cancer. CONCLUSION Careful consideration should be paid before choosing ileorectal anastomosis as the treatment procedure for familial adenomatous polyposis patients because completion proctectomy was eventually necessary for half of the patients. Long-term surveillance, with more frequent gastric surveillance for patients over 50 years, is important for the prevention and treatment of extracolonic malignancies in familial adenomatous polyposis patients.
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Affiliation(s)
- Kazuhito Sasaki
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan.
| | - Hiroaki Nozawa
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Kazushige Kawai
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Koji Murono
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Shigenobu Emoto
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Junko Kishikawa
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Hiroaki Ishii
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Yuichiro Yokoyama
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Shinya Abe
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Yuzo Nagai
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Hiroyuki Anzai
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Hirofumi Sonoda
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Tetsuro Taira
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
| | - Soichiro Ishihara
- Department of Surgical Oncology, Faculty of Medicine, the University of Tokyo, Japan
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16
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Multistage Rectal Polypectomy: An Alternative to Proctectomy in Patients With Familial Adenomatous Polyposis. Dis Colon Rectum 2021; 64:e391-e394. [PMID: 33872285 DOI: 10.1097/dcr.0000000000002030] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
INTRODUCTION When patients with familial adenomatous polyposis have a severely affected rectum, it is usually assumed that endoscopic control is impossible or unwise. The standard approach is proctectomy with either an end ileostomy or an IPAA. Here we show that application of aggressive, multistage snare polypectomy to this situation can be effective and allow the patient to avoid surgery, at least in the short term. TECHNIQUE Standard polypectomy using snare excision with coagulation is used, taking 2 or 3 sessions, and beginning with the largest polyps. The procedures are performed with the patient under general anesthesia. Endoscopic mucosal resection technique with fluid injection to lift polyps is not necessary. RESULTS Complete control of the rectal polyps, sustained for at least 2 years, is possible without functional sequelas. CONCLUSIONS Patients with familial adenomatous polyposis with severe rectal polyposis can be offered multistage rectal polypectomy and safely avoid proctectomy.
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17
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Pasquer A, Benech N, Pioche M, Breton A, Rivory J, Vinet O, Poncet G, Saurin JC. Prophylactic colectomy and rectal preservation in FAP: systematic endoscopic follow-up and adenoma destruction changes natural history of polyposis. Endosc Int Open 2021; 9:E1014-E1022. [PMID: 34222624 PMCID: PMC8211478 DOI: 10.1055/a-1467-6257] [Citation(s) in RCA: 24] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/23/2021] [Accepted: 03/04/2021] [Indexed: 12/30/2022] Open
Abstract
Background and study aims Prophylactic surgery of familial adenomatous polyposis (FAP) includes total colectomy with ileorectal anastomosis (IRA) to proctocolectomy with ileoanal anastomosis (IAA). Surgical guidelines rely on studies without systematic endoscopic follow-up and treatment. Our aim was to report our experience based on a different approach: therapeutic follow-up, comparing in this setting IRA and IAA in terms of oncological safety and quality of life. Patients and methods Between January 1965 and November 2015, all patients who underwent prophylactic surgery for FAP with therapeutic endoscopic follow-up in Lyon University hospital: systematic endoscopic treatment of adenomas, were retrospectively and prospectively (since 2011) included. Results A total of 296 patients were analyzed: 92 had proctocolectomy with IAA (31.1 %), 197 total colectomy with IRA (66.5 %), and seven abdominoperineal resections (2.4 %). Median follow-up was 17.1 years (range, 0-38.1). Incidence of secondary cancer (IR vs. IAA) was 6.1 % vs. 1.1 % ( P = 0.06; 95 %CI 0.001-0.36). The 15-year cancer-free and overall survival (IR vs. IAA) were 99.5 % vs 100 % ( P = 0.09) and 98.9 % vs. 98.8 % ( P = 0.82), respectively. Postoperative morbidity occurred in 44 patients: 29 (14.7 %) in the IRA and 15 (16.3 %) in the IAA group ( P = 0.72). The mean number of stools per day in the respective groups were 4.4 (2.5) vs. 5.5 (2.6) ( P = 0.001). Fecal incontinence occurred in 14 patients (7.1 %) in the IRA vs. 16 (17.4 %) in the IAA group ( P = 0.03). Conclusions A combination of therapeutic endoscopic treatment and extended rectal preservation appears to be a safe alternative to ileoanal J-pouch anastomosis.
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Affiliation(s)
- Arnaud Pasquer
- Digestive and Oncological Surgery Department, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France,University Claude Bernard Lyon I, Faculté de Médecine Lyon Est, Lyon, France
| | - Nicolas Benech
- Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Mathieu Pioche
- University Claude Bernard Lyon I, Faculté de Médecine Lyon Est, Lyon, France,Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Antoine Breton
- Digestive and Oncological Surgery Department, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Jerome Rivory
- Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Olivier Vinet
- Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
| | - Gilles Poncet
- Digestive and Oncological Surgery Department, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France,University Claude Bernard Lyon I, Faculté de Médecine Lyon Est, Lyon, France
| | - Jean Christophe Saurin
- University Claude Bernard Lyon I, Faculté de Médecine Lyon Est, Lyon, France,Hepato-gastroenterology Department Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France
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18
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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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19
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Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut 2020; 69:411-444. [PMID: 31780574 PMCID: PMC7034349 DOI: 10.1136/gutjnl-2019-319915] [Citation(s) in RCA: 289] [Impact Index Per Article: 57.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/20/2019] [Revised: 10/25/2019] [Accepted: 11/05/2019] [Indexed: 12/12/2022]
Abstract
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual's lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.
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Affiliation(s)
- Kevin J Monahan
- Family Cancer Clinic, St Mark's Hospital, London, UK
- Faculty of Medicine, Imperial College, London, UK
| | - Nicola Bradshaw
- Clinical Genetics, West of Scotland Genetics Services, Glasgow, Glasgow, UK
| | - Sunil Dolwani
- Gastroenterology, Cardiff and Vale NHS Trust, Cardiff, UK
| | - Bianca Desouza
- Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK
| | | | - James E East
- Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK
- Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
| | - Mohammad Ilyas
- Faculty of Medicine & Health Sciences, Nottingham University, Nottingham, UK
| | - Asha Kaur
- Head of Policy and Campaigns, Bowel Cancer UK, London, UK
| | - Fiona Lalloo
- Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK
| | | | - Matthew D Rutter
- Gastroenterology, University Hospital of North Tees, Stockton-on-Tees, UK
- Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK
| | - Ian Tomlinson
- Nuffield Department of Clinical Medicine, Wellcome Trust Centre for Human Genetics, Birmingham, UK
- Cancer Research Centre, University of Edinburgh, Edinburgh, UK
| | - Huw J W Thomas
- Family Cancer Clinic, St Mark's Hospital, London, UK
- Faculty of Medicine, Imperial College, London, UK
| | - James Hill
- Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK
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20
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Ng KS, Gonsalves SJ, Sagar PM. Ileal-anal pouches: A review of its history, indications, and complications. World J Gastroenterol 2019; 25:4320-4342. [PMID: 31496616 PMCID: PMC6710180 DOI: 10.3748/wjg.v25.i31.4320] [Citation(s) in RCA: 82] [Impact Index Per Article: 13.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/12/2019] [Revised: 03/12/2019] [Accepted: 03/25/2019] [Indexed: 02/06/2023] Open
Abstract
The ileal pouch anal anastomosis (IPAA) has revolutionised the surgical management of ulcerative colitis (UC) and familial adenomatous polyposis (FAP). Despite refinement in surgical technique(s) and patient selection, IPAA can be associated with significant morbidity. As the IPAA celebrated its 40th anniversary in 2018, this review provides a timely outline of its history, indications, and complications. IPAA has undergone significant modification since 1978. For both UC and FAP, IPAA surgery aims to definitively cure disease and prevent malignant degeneration, while providing adequate continence and avoiding a permanent stoma. The majority of patients experience long-term success, but “early” and “late” complications are recognised. Pelvic sepsis is a common early complication with far-reaching consequences of long-term pouch dysfunction, but prompt intervention (either radiological or surgical) reduces the risk of pouch failure. Even in the absence of sepsis, pouch dysfunction is a long-term complication that may have a myriad of causes. Pouchitis is a common cause that remains incompletely understood and difficult to manage at times. 10% of patients succumb to the diagnosis of pouch failure, which is traditionally associated with the need for pouch excision. This review provides a timely outline of the history, indications, and complications associated with IPAA. Patient selection remains key, and contraindications exist for this surgery. A structured management plan is vital to the successful management of complications following pouch surgery.
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Affiliation(s)
- Kheng-Seong Ng
- John Goligher Colorectal Unit, St. James’s University Hospital, Leeds LS9 7TF, United Kingdom
- Institute of Academic Surgery, University of Sydney, Camperdown, New South Wales 2050, Australia
| | - Simon Joseph Gonsalves
- Department of Colorectal Surgery, Huddersfield Royal Infirmary, Calderdale and Huddersfield NHS Foundation Trust, Huddersfield HD3 3EA, United Kingdom
| | - Peter Michael Sagar
- John Goligher Colorectal Unit, St. James’s University Hospital, Leeds LS9 7TF, United Kingdom
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Abstract
Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disease with a high tendency to develop colorectal cancer. The timing and choice of preventive surgical interventions should be based on the number, size and severity of adenomas, combined with a variety of considerations, in order to effectively prevent cancer and make patients easy to accept. Total proctocolectomy and ileal pouch-anal anastomosis (IPAA) procedure, which could minimize the residual rectal mucosa and reduce the risk of adenoma recurrence, has become the first choice for patients with FAP. Besides, laparoscopic IPAA has obvious advantages such as cosmetic appearance, quick recovery, little adhesion and high pregnancy rate. Patients with FAP should be managed by experienced surgeons working in specialized medical centers in order to get the most reasonable treatment at the best time and achieve long-term effective outcomes.
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Affiliation(s)
- Kai-Yu Li
- Department of General Surgery, Tianjin Medical University General Hospital, Tianjin 300052, China
| | - Gang Liu
- Department of General Surgery, Tianjin Medical University General Hospital, Tianjin 300052, China
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Shawki S, Kalady MF. The Ileal Pouch for Familial Adenomatous Polyposis. POUCHITIS AND ILEAL POUCH DISORDERS 2019:59-67. [DOI: 10.1016/b978-0-12-809402-0.00006-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 09/01/2023]
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Life After Surgery: Surgeon Assessments of Quality of Life Among Patients With Familial Adenomatous Polyposis. Dis Colon Rectum 2018; 61:1217-1222. [PMID: 30192330 DOI: 10.1097/dcr.0000000000001146] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/16/2022]
Abstract
BACKGROUND Without prophylactic surgery, patients with familial adenomatous polyposis are at high risk for colorectal cancer development. Various surgical options for prophylaxis are available. Patient decision-making for preventative treatments is often influenced by the preferences of healthcare providers. OBJECTIVE We determined surgeon preferences for the surgical options available to patients with familial adenomatous polyposis. DESIGN We obtained preference estimates for postoperative health states from colorectal surgeons who had treated ≥10 patients with familial adenomatous polyposis. SETTINGS Assessments were made at an annual meeting of the American Society of Colon and Rectal Surgeons. MAIN OUTCOME MEASURES Utilities were measured through the time trade-off method. We determined utilities for 3 procedures used for prophylaxis, including total proctocolectomy with permanent ileostomy, colectomy with ileorectal anastomosis, and total proctocolectomy with IPAA. We also assessed utilities for 2 short-term health states: 90 days with a temporary ileostomy and 2 years with a poorly functioning ileoanal pouch. RESULTS Twenty-seven surgeons who had cared for >1700 patients with familial adenomatous polyposis participated in this study. The highest utility scores were provided for colectomy with ileorectal anastomosis (0.98). Lower utility scores were provided for total proctocolectomy with permanent ileostomy (0.87) and IPAA (0.89). The number of patients with familial adenomatous polyposis who were treated by participating surgeons did not influence these estimates; however, more-experienced surgeons gave lower utility scores for a poorly functioning ileoanal pouch than less-experienced surgeons (0.15, 0.50, and 0.25 for high-, medium-, and low-volume surgeons; p = 0.02). LIMITATIONS This study was limited by the sample size. CONCLUSIONS For patients with familial adenomatous polyposis and relative rectal sparing, surgeon preferences are greatest for colectomy with ileorectal anastomosis. Utility estimates provided by this study are important for understanding surgical decision-making and suggest a role for ileorectal anastomosis in appropriately selected patients. See Video Abstract at http://links.lww.com/DCR/A656.
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Ashburn JH. Management of rectal neoplasia in hereditary colorectal cancer patients. SEMINARS IN COLON AND RECTAL SURGERY 2018. [DOI: 10.1053/j.scrs.2018.06.006] [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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Xue L, Williamson A, Gaines S, Andolfi C, Paul-Olson T, Neerukonda A, Steinhagen E, Smith R, Cannon LM, Polite B, Umanskiy K, Hyman N. An Update on Colorectal Cancer. Curr Probl Surg 2018; 55:76-116. [PMID: 29631699 DOI: 10.1067/j.cpsurg.2018.02.003] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Affiliation(s)
- Lai Xue
- Department of Surgery, University of Chicago Medicine, Chicago, IL
| | | | - Sara Gaines
- Department of Surgery, University of Chicago Medicine, Chicago, IL
| | - Ciro Andolfi
- Department of Surgery, University of Chicago Medicine, Chicago, IL
| | - Terrah Paul-Olson
- Department of Surgery, Emory University School of Medicine, Atlanta, GA
| | - Anu Neerukonda
- Department of Medicine, University of Chicago Medicine, Chicago, IL
| | - Emily Steinhagen
- Department of Surgery, Case Western Reserve University School of Medicine, Cleveland, OH
| | - Radhika Smith
- Department of Surgery, University of Chicago Medicine, Chicago, IL
| | - Lisa M Cannon
- Department of Surgery, University of Chicago Medicine, Chicago, IL
| | - Blasé Polite
- Department of Medicine, University of Chicago Medicine, Chicago, IL
| | | | - Neil Hyman
- Department of Surgery, University of Chicago Medicine, Chicago, IL.
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The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Polyposis Syndromes. Dis Colon Rectum 2017; 60:881-894. [PMID: 28796726 PMCID: PMC5701653 DOI: 10.1097/dcr.0000000000000912] [Citation(s) in RCA: 55] [Impact Index Per Article: 6.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
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HEREDITARY COLORECTAL CANCER REGISTRY: A CLEVELAND CLINIC FOUNDATION EXPERIENCE. REVISTA MÉDICA CLÍNICA LAS CONDES 2017. [DOI: 10.1016/j.rmclc.2017.06.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022] Open
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J C, M O, L L, D C, X X, H H, L A, G D, B J, K H, B L, J M, C B, M K. REGISTRO DE CÁNCER COLORRECTAL HEREDITARIO: UNA EXPERIENCIA DE “CLEVELAND CLINIC FOUNDATION”. REVISTA MÉDICA CLÍNICA LAS CONDES 2017. [DOI: 10.1016/j.rmclc.2017.07.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/19/2022] Open
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29
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Adenomatous Polyposis Syndromes: Familial Adenomatous Polyposis and MutYH-Associated Polyposis. CURRENT COLORECTAL CANCER REPORTS 2017. [DOI: 10.1007/s11888-017-0379-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/19/2022]
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Chittleborough TJ, Warrier SK, Heriot AG, Kalady M, Church J. Dispelling misconceptions in the management of familial adenomatous polyposis. ANZ J Surg 2017; 87:441-445. [PMID: 28266097 DOI: 10.1111/ans.13919] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/23/2016] [Revised: 12/18/2016] [Accepted: 12/26/2016] [Indexed: 12/15/2022]
Abstract
Patients with familial adenomatous polyposis require surgical intervention at some point in their lives. The diagnosis is often apparent from their phenotype and family history, however, this is not always the case. Many factors can influence the surgical strategy although the polyposis burden and distribution remain the main consideration. While prophylactic removal of the rectum and colon is often required, sparing the rectum at the index surgery is safe in select patients. This article aims to dispel misconceptions in the diagnosis and treatment of patients with familial adenomatous polyposis.
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Affiliation(s)
- Timothy J Chittleborough
- Department of Cancer Surgery, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.,Department of Surgery, The University of Melbourne, Melbourne, Victoria, Australia
| | - Satish K Warrier
- Department of Cancer Surgery, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.,Department of Colorectal Surgery, Alfred Health, Melbourne, Victoria, Australia
| | - Alexander G Heriot
- Department of Cancer Surgery, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.,Department of Surgery, The University of Melbourne, Melbourne, Victoria, Australia
| | - Matthew Kalady
- Department of Colorectal Surgery, Digestive Diseases and Surgery Institute, Cleveland Clinic, Cleveland, Ohio, USA.,Sanford R. Weiss, MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio, USA
| | - James Church
- Department of Colorectal Surgery, Digestive Diseases and Surgery Institute, Cleveland Clinic, Cleveland, Ohio, USA.,Sanford R. Weiss, MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio, USA
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Kennelly RP, Gryfe R, Winter DC. Familial colorectal cancer: Patient assessment, surveillance and surgical management. Eur J Surg Oncol 2016; 43:294-302. [PMID: 27546013 DOI: 10.1016/j.ejso.2016.07.008] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/16/2016] [Accepted: 07/12/2016] [Indexed: 02/06/2023] Open
Abstract
Germline mutations account for 5-10% of colorectal cancer. Most mutations are autosomal dominant with high penetrance and affected patients benefit greatly from appropriate treatment. This review presents the current knowledge regarding familial colorectal cancer and provides practical information based on international guidelines and the best available evidence regarding patient assessment, surveillance and surgical management. Surgeons are often the first point of contact and frequently, the main provider of care for families with cancer syndromes or patients with familial cancer. Patients with a polyposis phenotype should undergo appropriate genetic testing. In non-polyposis patients with a cancer diagnosis, tumor testing for Lynch syndrome can guide the use of genetic testing. In patients without a personal history of cancer or polyposis, a carefully obtained family history with testing of available tumor tissue or of a living relative affected by colorectal cancer informs the need for genetic testing. Surveillance and surgical management should be planned following thorough assessment of familial cancer risk. Evidence exists to provide guidance as to the surveillance strategies required, the specific indications of genetic testing and the appropriate timing of operative intervention. A carefully obtained family history with selective genetic testing should inform surveillance and surgical management in patients who have a genetic predisposition for the development of colorectal cancer.
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Affiliation(s)
- R P Kennelly
- Mount Sinai Hospital, Toronto, Ontario, Canada; St. Vincent's University Hospital, Dublin, Ireland.
| | - R Gryfe
- Mount Sinai Hospital, Toronto, Ontario, Canada
| | - D C Winter
- St. Vincent's University Hospital, Dublin, Ireland
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32
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Church JM. Controversies in the surgery of patients with familial adenomatous polyposis and Lynch syndrome. Fam Cancer 2016; 15:447-51. [DOI: 10.1007/s10689-016-9886-4] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/20/2022]
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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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Campos FG. Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations. World J Gastroenterol 2014; 20:16620-16629. [PMID: 25469031 PMCID: PMC4248206 DOI: 10.3748/wjg.v20.i44.16620] [Citation(s) in RCA: 58] [Impact Index Per Article: 5.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/20/2014] [Revised: 07/14/2014] [Accepted: 08/28/2014] [Indexed: 02/06/2023] Open
Abstract
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. The purpose of the present paper is to bring up many controversial aspects regarding surgical treatment for FAP, and to discuss the results and perspectives of the operative choices and approaches. Preferably, the decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. A wide discussion with the patient may evaluate issues such as age, genotype, family history, sphincter function, the presence or risk of desmoid disease, potential complications of each procedure and chances of postoperative surveillance. Therefore, the definition of the best moment and the choice of appropriate procedure constitute an individual decision that must take into consideration patient’s preferences and full information about the complex nature of the disease. All these facts reinforce the idea that FAP patients should be managed by experienced surgeons working in specialized centers to achieve the best immediate and long-term results.
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35
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Kalady MF, Church JM. Prophylactic colectomy: Rationale, indications, and approach. J Surg Oncol 2014; 111:112-7. [PMID: 25418116 DOI: 10.1002/jso.23820] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/09/2014] [Accepted: 09/22/2014] [Indexed: 12/26/2022]
Abstract
Discerning the genetics of hereditary colorectal cancer syndromes has enabled a more individualized approach to preventing and treating colorectal cancers in affected patients and families. As these syndromes carry significant risk of colorectal cancer (nearly 100% in some cases), prophylactic colectomy is an important option for preventing cancer. This article addresses the rationale and indications for prophylactic colectomy in hereditary colorectal cancer syndromes, and provides insight into the details of surgical management.
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Affiliation(s)
- Matthew F Kalady
- Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio; Sanford R. Weiss, MD, Center for Inherited Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio
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Reimers MS, Engels CC, Kuppen PJK, van de Velde CJH, Liefers GJ. How does genome sequencing impact surgery? Nat Rev Clin Oncol 2014; 11:610-8. [PMID: 24958181 DOI: 10.1038/nrclinonc.2014.101] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/27/2022]
Abstract
Cancer is a leading cause of death worldwide. Great efforts are dedicated to the development of prognostic and predictive biomarkers to improve diagnosis and achieve optimal treatment selection, thereby, introducing precision medicine in the multimodality treatment of cancer. Genomic aberrations are the basis of tumour development, representing excellent candidates for the development of promising clinical biomarkers. Over the past decade, single-gene mutations and genomic profiling have been increasingly used in multidisciplinary consultations for risk-assessment and treatment planning for patients with cancer. We discuss the impact of such genetic-based information on surgical decision-making. Single-gene mutations have already influenced surgical decision-making in breast, colorectal and thyroid cancer. However, the direct impact of genomic profiling on surgical care has not yet been fully established. We discuss the direct and indirect influences of genomic profiling on surgery, and analyse the limitations and unresolved issues of a genotypic-approach to the surgical management of cancer.
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Affiliation(s)
- Marlies S Reimers
- Department of Surgery, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, Netherlands
| | - Charla C Engels
- Department of Surgery, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, Netherlands
| | - Peter J K Kuppen
- Department of Surgery, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, Netherlands
| | | | - Gerrit J Liefers
- Department of Surgery, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, Netherlands
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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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Vitellaro M, Ferrari A, Trencheva K, Sala P, Massimino M, Piva L, Bertario L. Is laparoscopic surgery an option to support prophylactic colectomy in adolescent patients with Familial Adenomatous Polyposis (FAP)? Pediatr Blood Cancer 2012; 59:1223-8. [PMID: 22378577 DOI: 10.1002/pbc.24113] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/15/2011] [Accepted: 01/30/2012] [Indexed: 12/20/2022]
Abstract
BACKGROUND Prophylactic surgery is still considered the standard treatment for patients with Familial Adenomatous Polyposis (FAP). Laparoscopic (Lap) surgery has been introduced as an alternative approach. The aim was to evaluate the feasibility and short- to long-term outcomes after prophylactic FAP surgery in adolescent. PROCEDURES A retrospective review of a database of adolescent patients with FAP identified through the Hereditary Colorectal Tumor Registry in a single Institution between 2005 and 2011. Patients underwent Lap total colectomy (TC) with ileo-rectal anastomosis (IRA) or proctocolectomy (PC) with ileal-pouch anal anastomosis (IPAA). The main outcomes were: Hospital stay, postoperative complications, desmoid tumor rates, tumor recurrence, long-term complications. RESULTS Sixteen consecutive patients with median age 16 (range 13-19) and median BMI 22 (17-29) underwent surgery. [correction made here after initial online publication]. Of them 14 patients had LAP TC with IRA and 2 had PC with IPAA. Operative time (median, range) was TC/IRA 270 (210-330) minutes; PC/IPAA 370 (360-380) minutes. Length of extraction site was cm (median, range) 6(5-8). Lymph Node harvest (median, range) 81 (32-139). Postoperative stay days (median, range) were 6 (4-24). Five patients (31.2%) showed dysplasia on the pathological report and 3 of them showed severe dysplasia. Median follow-up time (FU) was 39 months, range (10-82). The anastomotic leak rate for 30 days was 2 (12.5%). Pouch failure was 0. Post-surgical desmoid tumors rate was 1 (6.2%) and there was no tumor recurrence. Anastomotic stricture, SBO and mortality were zero. CONCLUSIONS Lap approach is feasible and shows acceptable postoperative outcomes. Lap surgery can be an appealing alternative for prophylactic surgery in adolescent FAP patients. Pediatr Blood Cancer 2012; 59: 1223-1228. © 2012 Wiley Periodicals, Inc.
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Affiliation(s)
- Marco Vitellaro
- Colorectal Cancer Surgery Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
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Warrier SK, Kalady MF. Familial adenomatous polyposis: challenges and pitfalls of surgical treatment. Clin Colon Rectal Surg 2012; 25:83-9. [PMID: 23730222 PMCID: PMC3423882 DOI: 10.1055/s-0032-1313778] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
Surgical management of familial adenomatous polyposis (FAP) is complex and requires both sound judgment and technical skills. Because colorectal cancer risk approaches 100%, prophylactic colorectal surgery remains a cornerstone of management. Both patient factors and disease characteristics influence surgical decision-making regarding the timing of prophylactic surgery, the extent of resection, and types of reconstruction. Making appropriate choices can be challenging and there is continued debate regarding optimal strategies. This chapter reviews the controversies in colorectal surgery for FAP.
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Affiliation(s)
- Satish K. Warrier
- Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio.
- Sanford R. Weiss, M.D. Center for Hereditary Colorectal Neoplasia, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio.
| | - Matthew F. Kalady
- Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio.
- Sanford R. Weiss, M.D. Center for Hereditary Colorectal Neoplasia, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio.
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Does intra-abdominal desmoid disease affect patients with an ileal pouch differently than those with an ileorectal anastomosis? Dis Colon Rectum 2011; 54:1388-91. [PMID: 21979183 DOI: 10.1097/dcr.0b013e31822f8d91] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
BACKGROUND Nobody has analyzed the sequelae of desmoids according to the type of surgery that precipitated them. OBJECTIVE This study aims to determine whether the clinical effects of abdominal desmoids would be worse in patients with restorative proctocolectomy than in patients with ileorectal anastomosis. DESIGN This is a retrospective, database study. PATIENTS Included were patients with familial adenomatous polyposis who had undergone proctocolectomy with IPAA or colectomy and ileorectal anastomosis, and subsequently developed an intra-abdominal desmoid tumor. MAIN OUTCOME MEASURES The primary outcome measures were the clinical course of the desmoids; morbidity, and the requirement for stoma. RESULTS There were 86 patients: 49 had restorative proctocolectomy and 37 had ileorectal anastomosis. Patient demographics were similar. Average follow-up was 9.8 years (range, 2.7-23.8) and 16.3 years (range, 2.3 - 42.9). Treatment of the desmoids included surgery (64.4% vs 65.6%), medical therapy (69.4% vs 59.5%), chemotherapy (36.2% vs 30.0%), and radiotherapy (4.5% vs 10.0%), and was the same for each group. The overall complication rate of desmoids was similar, approaching 70%. The risk of individual complications was also similar (bleeding (2.0% vs 0.0%), fistula (10.2% vs 13.5%), bowel obstruction (32.7% vs 48.6%), pain (34.7% vs 21.6%), and death related to desmoid tumors (2.0% vs 10.8%)); 38.8% of the restorative proctocolectomy group and 51.4% the ileorectal group had surgery for desmoid tumor complications (P = .21), and 22.4% and 22.2% of patients ultimately had permanent stomas. LIMITATIONS This study was limited by the relatively small numbers of patients. CONCLUSION The morbidity associated with desmoid tumors has not been shown to differ, whether they arise after restorative proctocolectomy or ileorectal anastomosis.
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Huang K, Gutierrez LP, Bülow S, Gallinger S, Castells A, Eagle CJ, Church JM. Clinical characteristics and outcomes in familial adenomatous polyposis patients with a long-term treatment of celecoxib: a matched cohort study. Fam Cancer 2011; 10:303-8. [PMID: 21359561 DOI: 10.1007/s10689-011-9423-4] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]
Abstract
Familial adenomatous polyposis (FAP) is a rare genetic disease. Without treatment, FAP patients have a 100% lifetime risk of developing colorectal cancer. This study was conducted to evaluate the effect of celecoxib treatment in prolonging the time to FAP-related events and to document the safety profile of the long-term use of celecoxib (≥6 months) in FAP patients. FAP patients receiving celecoxib in routine clinical practice were individually matched with historical/concurrent FAP patients not receiving celecoxib. The study population included patients aged 12 years or older registered in national and regional FAP registries in Denmark, the United States, Spain, and Canada. Descriptive statistics were used to summarize dose and duration among celecoxib treated patients. The primary study endpoints, time-to-next-FAP events, were examined with Kaplan-Meier method. Fifty four celecoxib-treated patients were recruited and a matched control was identified for 13 of these patients. The Kaplan-Meier estimated probability of not having a polypectomy 12 and 60 months post- ileorectal anastomosis in the celecoxib-treated patients (n = 33) was 60.6% and 42.2%, respectively. The estimated probability of not having a polypectomy 6-60 months post-ileal pouch-anal anastomosis the celecoxib-treated patients (n = 24) was 100%. The median total daily dose of celecoxib was 698.9 mg with the majority treated more than 24 months. Five celecoxib-treated patients experienced 6 serious adverse events with one of these events (rash) considered related to celecoxib. Long term celecoxib treatment appeared to be well tolerated in FAP patients with or without FAP-related surgeries.
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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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Campos FG, Perez RO, Imperiale AR, Seid VE, Nahas SC, Cecconello I. Surgical treatment of familial adenomatous polyposis: ileorectal anastomosis or restorative proctolectomy? ARQUIVOS DE GASTROENTEROLOGIA 2010; 46:294-9. [PMID: 20232009 DOI: 10.1590/s0004-28032009000400009] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/02/2009] [Accepted: 04/29/2009] [Indexed: 12/11/2022]
Abstract
CONTEXT Controversy regarding the best operative choice for familial adenomatous polyposis lays between the morbidity of restorative proctocolectomy and the supposed mortality due to rectal cancer after ileorectal anastomosis. OBJECTIVES To evaluate operative complications and oncological outcome after ileorectal anastomosis and restorative proctocolectomy. METHODS Charts from patients treated between 1977 and 2006 were retrospectively analyzed. Clinical and endoscopic data, results of treatment, pathological reports and information regarding early and late outcome were recorded. RESULTS Eighty-eight patients - 41 men (46.6%) and 47 women (53.4%) - were assisted. At diagnosis, 53 patients (60.2%) already had associated colorectal cancer. Operative complications occurred in 25 patients (29.0 %), being 17 (19.7%) early and 8 (9.3%) late complications. There were more complications after restorative proctocolectomy (48.1%) compared to proctocolectomy with ileostomy (26.6%) and ileorectal anastomosis (19.0%) (P = 0,03). There was no operative mortality. During the follow-up of 36 ileorectal anastomosis, cancer developed in the rectal cuff in six patients (16,6%). Cumulative cancer risk after ileorectal anastomosis was 17.2% at 5 years, 24.1% at 10 years and 43.1% at 15 years of follow-up. Age-dependent cumulative risk started at 30 years (4.3%), went to 9.6% at 40 years, 20.9% at 40 years and 52% at 60 years. Among the 26 patients followed after restorative proctocolectomy, it was found cancer in the ileal pouch in 1 (3.8%). CONCLUSIONS 1. Operative complications occurred in about one third of the patients, being more frequently after the confection of ileal reservoir; 2. greater age and previous colonic carcinoma were associated with the development of rectal cancer after ileorectal anastomosis; 3. patients treated by restorative proctocolectomy are not free from the risk of pouch degeneration; 4. the disease complexity and the various risk factors (clinical, endoscopic, genetic) indicate that the best choice for operative treatment should be based on individual features discussed by a specialist; 5. all patients require continuous and long-term surveillance during postoperative follow-up.
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Affiliation(s)
- Fábio Guilherme Campos
- Colorectal Service, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
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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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Evaluation of 28 years of surgical treatment of children and young adults with familial adenomatous polyposis. J Pediatr Surg 2010; 45:525-32. [PMID: 20223315 DOI: 10.1016/j.jpedsurg.2009.06.017] [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] [Received: 09/12/2008] [Revised: 06/05/2009] [Accepted: 06/12/2009] [Indexed: 01/15/2023]
Abstract
BACKGROUND In this retrospective study, 28 years of surgical treatment of children and young adults with familial adenomatous polyposis (FAP) was analyzed. METHODS Forty-three patients were operated on before the age of 26 years. Endoscopic aspects, operative data, and complications were analyzed, and the resection specimens were reevaluated. Functional outcome was assessed by telephone questionnaire. RESULTS Primary ileorectal anastomosis (IRA) was performed in 34 patients with a mean age of 16 years (range, 7-25 years). Primary ileal-pouch anal anastomosis (IPAA) was performed in 9 patients at a mean age of 19 years (range, 15-24 years). Secondary excision of the rectum was performed in 7 patients. Overall, rectal carcinoma was present in 4 patients, at the age of 35, 36, 37, and 38 years. Two patients, aged 39 and 40 years, died because of invasive carcinoma with distant metastasis. The functional outcome and postoperative complications after both procedures were similar to those described in literature for children with FAP. Most patients did not experience alterations in lifestyle, and there was no urinary incontinence. CONCLUSIONS In this retrospective study, both IRA and IPAA showed to be feasible techniques in young patients with FAP. A prospective study with a sufficient follow-up is needed to compare both techniques in this specific group of patients.
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Abstract
Patients with FAP are guaranteed to have one major abdominal surgery in their life. They are also subject to cancers and benign disorders in other organ systems, some of which can be life threatening. Steering a course through life while avoiding preventable disease and complications of treatment, and maintaining good quality of life is a challenge for health care givers, patients, and their families. A successful voyage calls for clinical cooperation between providers and patients, education and understanding, and expertise and experience. FAP patients and families should be involved in a registry or genetic center, not to the exclusion of local practitioners but to their benefit. In this way the best of care is given and the best of outcomes ensured.
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Affiliation(s)
- James Church
- Department of Colorectal Surgery, Sanford R. Weiss Center for Hereditary Colorectal Neoplasia, Digestive Diseases Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
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da Luz Moreira A, Church JM, Burke CA. The evolution of prophylactic colorectal surgery for familial adenomatous polyposis. Dis Colon Rectum 2009; 52:1481-6. [PMID: 19617764 DOI: 10.1007/dcr.0b013e3181ab58fb] [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
INTRODUCTION Over the past 50 years, prophylactic colorectal surgery for patients with familial adenomatous polyposis has evolved as new technologies and ideas have emerged. The aim of this study was to review all the index surgeries for familial adenomatous polyposis performed at our institution to assess the changes in surgical techniques. METHODS All index abdominal surgeries for polyposis from 1950 to 2007 were identified through the Polyposis Registry Database. We assigned the patients to prepouch (before 1983), pouch (after 1983), and laparoscopic (after 1991) eras, and analyzed the changes in prophylactic surgery. RESULTS Four hundred twenty-four patients were included; 51% were male. Median age at surgery was 26 (range, 9-66) years. In the prepouch era, 97% (66 of 68) of all surgeries and 100% of restorative surgeries were ileorectal anastomosis. After 1983, 70% (54 of 77) of patients with a severe phenotype had an ileal pouch-anal anastomosis. After 1991, 110 operations (43%) were laparoscopic (88 ileorectal and 22 ileal pouch-anal anastomosis). CONCLUSION Colon surgery for familial adenomatous polyposis has evolved as advances in surgical technique have created more options to reduce the risk of cancer. Current strategy uses polyposis severity and distribution to decide on the surgical option, and laparoscopy to minimize morbidity.
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Affiliation(s)
- Andre da Luz Moreira
- Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio, USA
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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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