|
1
|
Balinisteanu I, Panzaru MC, Caba L, Ungureanu MC, Florea A, Grigore AM, Gorduza EV. Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street. Biomedicines 2023; 11:2143. [PMID: 37626640 PMCID: PMC10452453 DOI: 10.3390/biomedicines11082143] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/28/2023] [Revised: 07/20/2023] [Accepted: 07/26/2023] [Indexed: 08/27/2023] Open
Abstract
Cancer predisposition syndromes are entities determined especially by germinal pathogenic variants, with most of them autosomal dominantly inherited. The risk of a form of cancer is variable throughout life and affects various organs, including the thyroid. Knowing the heterogeneous clinical picture and the existing genotype-phenotype correlations in some forms of thyroid cancer associated with these syndromes is important for adequate and early management of patients and families. This review synthesizes the current knowledge on genes and proteins involved in cancer predisposition syndromes with thyroid cancer and the phenomena of heterogeneity (locus, allelic, mutational, and clinical).
Collapse
Affiliation(s)
- Ioana Balinisteanu
- Endocrinology Department, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania; (I.B.); (M.-C.U.)
- Endocrinology Department, “Sf. Spiridon” Hospital, 700106 Iasi, Romania
| | - Monica-Cristina Panzaru
- Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania; (A.F.); (E.V.G.)
| | - Lavinia Caba
- Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania; (A.F.); (E.V.G.)
| | - Maria-Christina Ungureanu
- Endocrinology Department, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania; (I.B.); (M.-C.U.)
- Endocrinology Department, “Sf. Spiridon” Hospital, 700106 Iasi, Romania
| | - Andreea Florea
- Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania; (A.F.); (E.V.G.)
| | - Ana Maria Grigore
- Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania; (A.F.); (E.V.G.)
| | - Eusebiu Vlad Gorduza
- Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania; (A.F.); (E.V.G.)
| |
Collapse
|
|
2
|
Xu M, Zheng Y, Zuo Z, Zhou Q, Deng Q, Wang J, Wang D. De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review. World J Surg Oncol 2023; 21:73. [PMID: 36864485 PMCID: PMC9979514 DOI: 10.1186/s12957-023-02951-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/08/2022] [Accepted: 02/14/2023] [Indexed: 03/04/2023] Open
Abstract
BACKGROUND Germline mutations in the APC gene located on chromosome 5q 21-22 can lead to familial adenomatous polyposis (FAP) and the development of colorectal cancer (CRC) if left untreated. As a rare extracolonic manifestation, thyroid cancer is diagnosed in about 2.6% of FAP patients. The genotype-phenotype correlation in FAP patients with thyroid cancer remains unclear. CASE PRESENTATION We present a 20-year-old female of FAP with thyroid cancer as the initial manifestation. The patient was asymptomatic and developed colon cancer liver metastases 2 years after the diagnosis of thyroid cancer. The patient underwent multiple surgical treatments in several organs, and regular colonoscopy with endoscopic polypectomy was performed. Genetic testing demonstrated the c.2929delG (p.Gly977Valfs*3) variant in exon 15 of the APC gene. This represents a previously undescribed APC mutation. This mutation causes loss of multiple structures on the APC gene including the 20-amino acid repeats, the EB1 binding domain, and the HDLG binding site, which may be pathogenic through β-catenin accumulation, cell cycle microtubule dysregulation, and tumor suppressor inactivation. CONCLUSIONS We report a de novo FAP case with thyroid cancer presenting atypically aggressive features harboring a novel APC mutation and review APC germline mutations in patients with FAP-associated thyroid cancer.
Collapse
Affiliation(s)
- Miaorong Xu
- grid.412465.0Department of Colorectal Surgery and Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Jiefang Road 88Th, Hangzhou, 310009 Zhejiang Province People’s Republic of China
| | - Yuyan Zheng
- grid.412465.0Department of Colorectal Surgery and Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Jiefang Road 88Th, Hangzhou, 310009 Zhejiang Province People’s Republic of China
| | - Zhongchao Zuo
- grid.412465.0Department of Colorectal Surgery and Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Jiefang Road 88Th, Hangzhou, 310009 Zhejiang Province People’s Republic of China
| | - Qin Zhou
- grid.412465.0Department of Colorectal Surgery and Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Jiefang Road 88Th, Hangzhou, 310009 Zhejiang Province People’s Republic of China
| | - Qun Deng
- grid.412465.0Department of Colorectal Surgery and Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Jiefang Road 88Th, Hangzhou, 310009 Zhejiang Province People’s Republic of China
| | - Jianwei Wang
- Department of Colorectal Surgery and Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Jiefang Road 88Th, Hangzhou, 310009, Zhejiang Province, People's Republic of China.
| | - Da Wang
- Department of Colorectal Surgery and Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Jiefang Road 88Th, Hangzhou, 310009, Zhejiang Province, People's Republic of China.
| |
Collapse
|
|
3
|
Strong Hereditary Predispositions to Colorectal Cancer. Genes (Basel) 2022; 13:genes13122326. [PMID: 36553592 PMCID: PMC9777620 DOI: 10.3390/genes13122326] [Citation(s) in RCA: 10] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/18/2022] [Revised: 12/01/2022] [Accepted: 12/05/2022] [Indexed: 12/14/2022] Open
Abstract
Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2% of cases). Colorectal cancer is the most common cancer with a strong genetic predisposition, but it includes dozens of various syndromes. This group includes familial adenomatous polyposis, attenuated familial adenomatous polyposis, MUTYH-associated polyposis, NTHL1-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Lynch syndrome, and Muir-Torre syndrome. The common symptom of all these diseases is a very high risk of colorectal cancer, but depending on the condition, their course is different in terms of age and range of cancer occurrence. The rate of cancer development is determined by its conditioning genes, too. Hereditary predispositions to cancer of the intestine are a group of symptoms of heterogeneous diseases, and their proper diagnosis is crucial for the appropriate management of patients and their successful treatment. Mutations of specific genes cause strong colorectal cancer predispositions. Identifying mutations of predisposing genes will support proper diagnosis and application of appropriate screening programs to avoid malignant neoplasm.
Collapse
|
|
4
|
Dubey T, Patel P, Mandlik D, Kanhere S, Patel K. A Case Report and Review of Literature: Cribriform-Morular Variant of Papillary Carcinoma. Indian J Otolaryngol Head Neck Surg 2022; 74:6045-6047. [PMID: 36742767 PMCID: PMC9895736 DOI: 10.1007/s12070-021-02674-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2021] [Accepted: 06/07/2021] [Indexed: 02/07/2023] Open
Abstract
We describe a case of cribriform morular variant of papillary thyroid carcinoma which is a rare subtype. We report a case of a 26 year old female who presented with a thyroid tumour without colonic manifestations. She underwent a total thyroidectomy with central compartment neck dissection. Her histopathology report showed Cribriform-Morular variant, Papillary carcinoma of the left lobe of thyroid. Focal Angio-invasion was present. Even in sporadic presentations of these variants, screening colonoscopy, genetic counselling and screening of family members should be invariably considered as many a time thyroid malignancy presents many years prior to colonic manifestations.
Collapse
|
|
5
|
Chakraborthy A, Mittal N, Thiagarajan S. Cribriform-Morular Variant of Papillary Thyroid Carcinoma: a Clinical Surprise in a Routine Case. Indian J Surg 2020. [DOI: 10.1007/s12262-020-02199-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/29/2022] Open
|
|
6
|
The American Association of Endocrine Surgeons Guidelines for the Definitive Surgical Management of Thyroid Disease in Adults. Ann Surg 2020; 271:e21-e93. [PMID: 32079830 DOI: 10.1097/sla.0000000000003580] [Citation(s) in RCA: 276] [Impact Index Per Article: 55.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
Abstract
OBJECTIVE To develop evidence-based recommendations for safe, effective, and appropriate thyroidectomy. BACKGROUND Surgical management of thyroid disease has evolved considerably over several decades leading to variability in rendered care. Over 100,000 thyroid operations are performed annually in the US. METHODS The medical literature from 1/1/1985 to 11/9/2018 was reviewed by a panel of 19 experts in thyroid disorders representing multiple disciplines. The authors used the best available evidence to construct surgical management recommendations. Levels of evidence were determined using the American College of Physicians grading system, and management recommendations were discussed to consensus. Members of the American Association of Endocrine Surgeons reviewed and commented on preliminary drafts of the content. RESULTS These clinical guidelines analyze the indications for thyroidectomy as well as its definitions, technique, morbidity, and outcomes. Specific topics include Pathogenesis and Epidemiology, Initial Evaluation, Imaging, Fine Needle Aspiration Biopsy Diagnosis, Molecular Testing, Indications, Extent and Outcomes of Surgery, Preoperative Care, Initial Thyroidectomy, Perioperative Tissue Diagnosis, Nodal Dissection, Concurrent Parathyroidectomy, Hyperthyroid Conditions, Goiter, Adjuncts and Approaches to Thyroidectomy, Laryngology, Familial Thyroid Cancer, Postoperative Care and Complications, Cancer Management, and Reoperation. CONCLUSIONS Evidence-based guidelines were created to assist clinicians in the optimal surgical management of thyroid disease.
Collapse
|
|
7
|
Monachese M, Mankaney G, Lopez R, O'Malley M, Laguardia L, Kalady MF, Church J, Shin J, Burke CA. Outcome of thyroid ultrasound screening in FAP patients with a normal baseline exam. Fam Cancer 2019; 18:75-82. [PMID: 30003385 DOI: 10.1007/s10689-018-0097-z] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome associated with a substantial lifetime risk for colorectal cancer. The leading extra-colonic causes of cancer in FAP include duodenal and thyroid cancer (TC). Recent guidelines recommend annual thyroid ultrasound (TUS) screening beginning in the teenage years but the evidence to support the interval particularly in FAP patients with a normal baseline ultrasound is lacking. TUS results from FAP patients enrolled in a thyroid screening program from 2006 to 2016 and who had at least 2 TUS were reviewed. TUS findings were classified as normal, low (LR) or high risk (HR) for TC based on nodule characteristics as determined by American Thyroid Association (ATA) guidelines. We assessed the incidence of TC in patient with normal baseline TUS and factors associated with TC. 264 FAP patients were included. Baseline TUS was normal in 167, LR in 74, and HR in 24 patients. Patients were observed for a mean 4.8 years and underwent an average of 3 TUS. Patients with normal baseline TUS did not develop TC during the course of follow up of 5.1 years. TC developed in 6 patients (2.3%) all with baseline nodules; 5 in the LR group and 1 in the HR group. Factors associated with development of TC were presence of baseline nodule(s) and female sex. The development of TC in FAP patients in a TUS screening program with short term follow up is low and no FAP patient with a normal baseline TUS developed TC during observation. Annual TUS in patients with a normal baseline TUS may not be needed. Extending the screening interval to 2 years may be reasonable until nodules are detected.
Collapse
Affiliation(s)
- Marc Monachese
- Department of Internal Medicine, Cleveland Clinic, Cleveland, OH, USA
| | - Gautam Mankaney
- Department of Gastroenterology and Hepatology, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH, USA
| | - Rocio Lopez
- Department of Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH, USA
| | - Margaret O'Malley
- Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA
| | - Lisa Laguardia
- Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA
| | - Matthew F Kalady
- Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA
| | - James Church
- Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA
| | - Joyce Shin
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA
- Department of Endocrine Surgery, Cleveland Clinic, Cleveland, OH, USA
| | - Carol A Burke
- Department of Gastroenterology and Hepatology, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH, USA.
- Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA.
- Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA.
| |
Collapse
|
|
8
|
Corean J, Furtado LV, Kadri S, Segal JP, Emerson LL. Cribriform-Morular Variant of Papillary Thyroid Carcinoma With Poorly Differentiated Features: A Case Report With Immunohistochemical and Molecular Genetic Analysis. Int J Surg Pathol 2018; 27:294-304. [PMID: 30176755 DOI: 10.1177/1066896918796946] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/24/2022]
Abstract
Cribriform-morular variant of papillary thyroid carcinoma (CMVPTC) is usually an inherited malignancy and may be a presenting indicator of familial adenomatous polyposis syndrome although it may occasionally be sporadic. Known CMVPTC mutations include adenomatous polyposis coli ( APC) and β-catenin ( CTNNB1) genes. Despite its malignant classification, CMVPTC is considered to be a well-differentiated thyroid tumor with a generally good behavior. In contrast, poorly differentiated thyroid carcinoma is an aggressive tumor. We report a case of CMVPTC with poorly differentiated features in a young female without phenotypic features of familial adenomatous polyposis but with known germline alterations of the APC gene. High throughput sequencing showed germline chromosome 5q deletion encompassing the APC gene in all components with additional unique genetic alterations in the somatic components. A single nucleotide substitution (c.1548+1G>A, NM_000038.5) located one base pair downstream of exon 12 of the APC gene was identified in the CMVPTC component, and a pathogenic frameshift deletion in exon 14 of APC (c.3642del, p.Ser1214Argfs*51, NM_000038.5) was identified in the poorly differentiated thyroid carcinoma component. No other cancer-associated genes were identified by our techniques. Our case represents a rare phenomenon of poorly differentiated features in association with CMVPTC. To our knowledge, ours is the only such report of poorly differentiated features arising in association with an inherited CMVPTC.
Collapse
Affiliation(s)
- Jessica Corean
- 1 Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.,2 Associated Regional and University Pathologists (ARUP) Laboratories, Salt Lake City, UT, USA
| | - Larissa V Furtado
- 1 Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.,2 Associated Regional and University Pathologists (ARUP) Laboratories, Salt Lake City, UT, USA
| | - Sabah Kadri
- 3 Department of Pathology, University of Chicago School of Medicine, Chicago, IL, USA
| | - Jeremy P Segal
- 3 Department of Pathology, University of Chicago School of Medicine, Chicago, IL, USA
| | - Lyska L Emerson
- 1 Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.,2 Associated Regional and University Pathologists (ARUP) Laboratories, Salt Lake City, UT, USA
| |
Collapse
|
|
9
|
Prevalence of and risk factors for thyroid carcinoma in patients with familial adenomatous polyposis: results of a multicenter study in Japan and a systematic review. Surg Today 2018; 49:72-81. [PMID: 30182306 DOI: 10.1007/s00595-018-1710-3] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/02/2018] [Accepted: 08/06/2018] [Indexed: 02/02/2023]
Abstract
PURPOSE To investigate the recent Japanese prevalence of thyroid cancer and its characteristics in familial adenomatous polyposis (FAP) patients, through the development of surveillance programs. METHODS The subjects of this study were 282 (93.1%) FAP patients for whom information on thyroid cancer was available, from among 303 patients registered in "the Retrospective Cohort Study of Familial Adenomatous Polyposis in Japan" database. We evaluated the prevalence and risk factors for thyroid cancer and integrated and/or compared our findings with those of previous reports, using a systematic review, including a meta-analysis. RESULTS Thyroid cancer was diagnosed in 16 women (11.4%) and 2 men (1.4%), at 17-41 years and 39-57 years of age, respectively. The prevalence of thyroid cancer was 6.4%, with a female-to-male ratio of 8:1, which is comparable to reports from other countries. A young age of < 33 years at the FAP diagnosis and female gender were identified as independent risk factors for thyroid cancer. CONCLUSIONS FAP-associated thyroid cancer predominantly affects young women, both in Japan and other countries. Since FAP is generally diagnosed when patients are in their 20 s or older, regular screening for thyroid cancer is recommended for all FAP patients, but especially women, from their early 20 s.
Collapse
|
|
10
|
Cameselle-Teijeiro JM, Peteiro-González D, Caneiro-Gómez J, Sánchez-Ares M, Abdulkader I, Eloy C, Melo M, Amendoeira I, Soares P, Sobrinho-Simões M. Cribriform-morular variant of thyroid carcinoma: a neoplasm with distinctive phenotype associated with the activation of the WNT/β-catenin pathway. Mod Pathol 2018; 31:1168-1179. [PMID: 29785019 DOI: 10.1038/s41379-018-0070-2] [Citation(s) in RCA: 50] [Impact Index Per Article: 7.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/10/2018] [Revised: 04/03/2018] [Accepted: 04/03/2018] [Indexed: 11/09/2022]
Abstract
Cribriform-morular variant of thyroid carcinoma is classically associated with familial adenomatous polyposis but, it can also occur as a sporadic neoplasm. This neoplasm is much more frequently observed in women than in men (ratio of 61:1). In familial adenomatous polyposis patients, tumors are generally multifocal and/or bilateral (multinodular appearance), whereas in the sporadic cases tumors tend to occur as single nodules. The tumors are well delimited, and characteristically show a blending of follicular, cribriform, papillary, trabecular, solid, and morular patterns. Neoplastic cells are tall or cuboidal with the occasional nuclear features of classic papillary thyroid carcinoma. The morules include cells with peculiar nuclear clearing and show positivity for CDX2 and CD10. Angioinvasion and capsular invasion have been described in about 30 and 40% of cases, respectively, with lymph node metastases in less than 10% of patients and distant metastases in 6%. Although this tumor has good prognosis, neuroendocrine and/or poor differentiation have been associated with aggressive behavior. Tumor cells can be focally positive or negative for thyroglobulin, but are always positive for TTF-1, estrogen and progesterone receptors, and negative for calcitonin and cytokeratin 20. Nuclear and cytoplasmic staining for β-catenin is the hallmark of this tumor type; this feature plays a role in fine needle aspiration biopsy. Cribriform-morular variant of thyroid carcinoma has a peculiar endodermal (intestinal-like) type phenotype, activation of the WNT/β-catenin signaling pathway, and belongs to the non-BRAF-non-RAS subtype of the molecular classification of thyroid tumors. Elevated expression of estrogen and progesterone receptors and activation of the WNT/β-catenin pathway may prove useful as putative therapeutic targets in cases that do not respond to conventional therapy. Clinicians should be alerted to the possibility of familial adenomatous polyposis when a diagnosis of cribriform-morular variant of thyroid carcinoma is made. Instead of being considered as a variant of papillary thyroid carcinoma its designation as cribriform-morular thyroid carcinoma seems more appropriate.
Collapse
Affiliation(s)
- José Manuel Cameselle-Teijeiro
- Department of Pathology, Clinical University Hospital, Galician Healthcare Service (SERGAS), Santiago de Compostela, Spain. .,Medical Faculty, University of Santiago de Compostela, Santiago de Compostela, Spain.
| | | | - Javier Caneiro-Gómez
- Department of Pathology, Clinical University Hospital, Galician Healthcare Service (SERGAS), Santiago de Compostela, Spain.,Medical Faculty, University of Santiago de Compostela, Santiago de Compostela, Spain
| | - María Sánchez-Ares
- Department of Pathology, Clinical University Hospital, Galician Healthcare Service (SERGAS), Santiago de Compostela, Spain
| | - Ihab Abdulkader
- Department of Pathology, Clinical University Hospital, Galician Healthcare Service (SERGAS), Santiago de Compostela, Spain.,Medical Faculty, University of Santiago de Compostela, Santiago de Compostela, Spain
| | - Catarina Eloy
- i3S Instituto de Investigação e Inovação em Saúde, Porto, Portugal.,Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.,Medical Faculty, University of Porto, Porto, Portugal
| | - Miguel Melo
- i3S Instituto de Investigação e Inovação em Saúde, Porto, Portugal.,Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.,Department of Endocrinology, Diabetes, and Metabolism, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.,Unit of Endocrinology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
| | - Isabel Amendoeira
- Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.,Medical Faculty, University of Porto, Porto, Portugal.,Department of Pathology, Centro Hospitalar S. João, Porto, Portugal
| | - Paula Soares
- i3S Instituto de Investigação e Inovação em Saúde, Porto, Portugal.,Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.,Medical Faculty, University of Porto, Porto, Portugal
| | - Manuel Sobrinho-Simões
- i3S Instituto de Investigação e Inovação em Saúde, Porto, Portugal.,Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.,Medical Faculty, University of Porto, Porto, Portugal.,Department of Pathology, Centro Hospitalar S. João, Porto, Portugal
| |
Collapse
|
|
11
|
Ishida H, Yamaguchi T, Tanakaya K, Akagi K, Inoue Y, Kumamoto K, Shimodaira H, Sekine S, Tanaka T, Chino A, Tomita N, Nakajima T, Hasegawa H, Hinoi T, Hirasawa A, Miyakura Y, Murakami Y, Muro K, Ajioka Y, Hashiguchi Y, Ito Y, Saito Y, Hamaguchi T, Ishiguro M, Ishihara S, Kanemitsu Y, Kawano H, Kinugasa Y, Kokudo N, Murofushi K, Nakajima T, Oka S, Sakai Y, Tsuji A, Uehara K, Ueno H, Yamazaki K, Yoshida M, Yoshino T, Boku N, Fujimori T, Itabashi M, Koinuma N, Morita T, Nishimura G, Sakata Y, Shimada Y, Takahashi K, Tanaka S, Tsuruta O, Yamaguchi T, Sugihara K, Watanabe T. Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version). J Anus Rectum Colon 2018; 2:S1-S51. [PMID: 31773066 PMCID: PMC6849642 DOI: 10.23922/jarc.2017-028] [Citation(s) in RCA: 30] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/26/2017] [Accepted: 09/15/2017] [Indexed: 02/07/2023] Open
Abstract
Hereditary colorectal cancer accounts for less than 5% of all colorectal cancer cases. Some of the unique characteristics that are commonly encountered in cases of hereditary colorectal cancer include early age at onset, synchronous/metachronous occurrence of the cancer, and association with multiple cancers in other organs, necessitating different management from sporadic colorectal cancer. While the diagnosis of familial adenomatous polyposis might be easy because usually 100 or more adenomas that develop in the colonic mucosa are in this condition, Lynch syndrome, which is the most commonly associated disease with hereditary colorectal cancer, is often missed in daily medical practice because of its relatively poorly defined clinical characteristics. In addition, the disease concept and diagnostic criteria for Lynch syndrome, which was once called hereditary non-polyposis colorectal cancer, have changed over time with continual research, thereby possibly creating confusion in clinical practice. Under these circumstances, the JSCCR Guideline Committee has developed the "JSCCR Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (HCRC)," to allow delivery of appropriate medical care in daily practice to patients with familial adenomatous polyposis, Lynch syndrome, or other related diseases. The JSCCR Guidelines 2016 for HCRC were prepared by consensus reached among members of the JSCCR Guideline Committee, based on a careful review of the evidence retrieved from literature searches, and considering the medical health insurance system and actual clinical practice settings in Japan. Herein, we present the English version of the JSCCR Guidelines 2016 for HCRC.
Collapse
Affiliation(s)
- Hideyuki Ishida
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitma Medical University, Kawagoe, Japan
| | - Tatsuro Yamaguchi
- Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan
| | - Kohji Tanakaya
- Department of Surgery, Iwakuni Clinical Center, Iwakuni, Japan
| | - Kiwamu Akagi
- Department of Cancer Prevention and Molecular Genetics, Saitama Prefectural Cancer Center, Saitama, Japan
| | - Yasuhiro Inoue
- Department of Gastrointestinal and Pediatric Surgery, Division of Reparative Medicine, Institute of Life Sciences, Mie University Graduate School of Medicine, Tsu, Japan
| | - Kensuke Kumamoto
- Department of Coloproctology, Aizu Medical Center, Fukushima Medical University, Aizuwakamatsu, Japan
| | - Hideki Shimodaira
- Department of Clinical Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan
| | - Shigeki Sekine
- Division of Pathology and Clinical Laboratories, National Cancer Center, Hospital, Tokyo, Japan
| | - Toshiaki Tanaka
- Department of Surgical Oncology, The Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
| | - Akiko Chino
- Division of Gastroenterology, The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan
| | - Naohiro Tomita
- Department of Surgery, Hyogo College of Medicine, Nishinomiya, Japan
| | - Takeshi Nakajima
- Endoscopy Division/Department of Genetic Medicine and Service, National Cancer Center Hospital, Tokyo, Japan
| | | | - Takao Hinoi
- Department of Surgery, Institute for Clinical Research, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Kure, Japan
| | - Akira Hirasawa
- Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan
| | - Yasuyuki Miyakura
- Department of Surgery Saitama Medical Center, Jichi Medical University, Saitama, Japan
| | - Yoshie Murakami
- Department of Oncology Nursing, Faculty of Nursing, Toho University, Tokyo, Japan
| | - Kei Muro
- Department of Clinical Oncology, Aichi Cancer Center Hospital, Nagoya, Japan
| | - Yoichi Ajioka
- Division of Molecular and Diagnostic Pathology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan
| | | | - Yoshinori Ito
- Department of Radiation Oncology, National Cancer Center Hospital, Tokyo, Japan
| | - Yutaka Saito
- Endoscopy Division, National Cancer Center Hospital, Tokyo, Japan
| | - Tetsuya Hamaguchi
- Division of Gastrointestinal Medical Oncology, National Cancer Center Hospital, Tokyo, Japan
| | - Megumi Ishiguro
- Department of Translational Oncology, Tokyo Medical and Dental University Graduate School, Tokyo, Japan
| | - Soichiro Ishihara
- Department of Surgical Oncology, The Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
| | - Yukihide Kanemitsu
- Colorectal Surgery Division, National Cancer Center Hospital, Tokyo, Japan
| | - Hiroshi Kawano
- Department of Gastroenterology, St. Mary's Hospital, Fukuoka, Japan
| | - Yusuke Kinugasa
- Department of Colon and Rectal Surgery, Shizuoka Cancer Center, Shizuoka, Japan
| | - Norihiro Kokudo
- Hepato-Pancreato-Biliary Surgery Division, Artificial Organ and Transplantation Division, Department of Surgery, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
| | - Keiko Murofushi
- Radiation Oncology Department, The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan
| | - Takako Nakajima
- Department of Clinical Oncology, St. Marianna University School of Medicine, Kawasaki, Japan
| | - Shiro Oka
- Gastroenterology and Metabolism, Hiroshima University Hospital, Hiroshima, Japan
| | | | - Akihiko Tsuji
- Department of Clinical Oncology, Faculty of Medicine, Kagawa University, Takamatsu, Japan
| | - Keisuke Uehara
- Division of Surgical Oncology, Department of Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan
| | - Hideki Ueno
- Department of Surgery, National Defense Medical College, Saitama, Japan
| | - Kentaro Yamazaki
- Division of Gastrointestinal Oncology, Shizuoka Cancer Center, Shizuoka, Japan
| | - Masahiro Yoshida
- Department of Hemodialysis and Surgery, Chemotherapy Research Institute, International University of Health and Welfare, Ichikawa, Japan
| | - Takayuki Yoshino
- Department of Gastroenterology and Gastrointestinal Oncology, National Cancer Center Hospital East, Chiba, Japan
| | - Narikazu Boku
- Division of Gastrointestinal Medical Oncology, National Cancer Center Hospital, Tokyo, Japan
| | | | - Michio Itabashi
- Department of Surgery, Institute of Gastroenterology, Tokyo Women's Medical University, Tokyo, Japan
| | - Nobuo Koinuma
- Department of Health Administration and Policy, Tohoku Medical and Pharmaceutical University, Sendai, Japan
| | - Takayuki Morita
- Department of Surgery, Cancer Center, Aomori Prefectural Central Hospital, Aomori, Japan
| | - Genichi Nishimura
- Department of Surgery, Japanese Red Cross Kanazawa Hospital, Ishikawa, Japan
| | - Yuh Sakata
- CEO, Misawa City Hospital, Misawa, Japan
| | - Yasuhiro Shimada
- Division of Clinical Oncology, Kochi Health Sciences Center, Kochi, Japan
| | - Keiichi Takahashi
- Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan
| | - Shinji Tanaka
- Department of Endoscopy, Hiroshima University Hospital, Hiroshima, Japan
| | - Osamu Tsuruta
- Division of GI Endoscopy, Kurume University School of Medicine, Fukuoka, Japan
| | - Toshiharu Yamaguchi
- Department of Gastroenterological Surgery, The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan
| | | | - Toshiaki Watanabe
- Department of Surgical Oncology, The Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
| |
Collapse
|
|
12
|
Andrici J, Gill AJ, Hornick JL. Next generation immunohistochemistry: Emerging substitutes to genetic testing? Semin Diagn Pathol 2018; 35:161-169. [DOI: 10.1053/j.semdp.2017.05.004] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
|
|
13
|
Chenbhanich J, Atsawarungruangkit A, Korpaisarn S, Phupitakphol T, Osataphan S, Phowthongkum P. Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis. Fam Cancer 2018; 18:53-62. [PMID: 29663106 DOI: 10.1007/s10689-018-0085-3] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/15/2022]
Abstract
Thyroid cancer (TC) is a known extra-intestinal manifestation and contributes to the mortality and morbidity in patients with familial adenomatous polyposis (FAP). Its exact prevalence is not well established and recent studies have shown an increasing number of TC in this patient population. The prevalence of benign thyroid masses and endocrinologic thyroid disorders are also poorly described. We conducted a systematic review and meta-analysis by using a random-effects model to characterize TC and estimated the prevalence of thyroid diseases in FAP patients. Twelve studies (n = 9821) were included. Pooled prevalence of TC, benign thyroid masses, and endocrinologic thyroid disorders in FAP were 2.6% [95% confidence interval (CI) 1.3-4.8], 48.8% [95% CI 33.8-64.0], and 6.9% [95% CI 4.5-10.3] respectively. Subgroup analyses revealed higher prevalence of TC in studies with fewer participants, studies that used screening ultrasound to diagnose TC, and studies that were published after 2002. TC diagnosis preceded the diagnosis of FAP in 34% of the patients. The means age at diagnosis of FAP and TC were 29 and 31 years, respectively. 95% of the patients were female and the most common pathology was of papillary subtype (83.3%). Most mutations (79.2%) were located at the 5' end of APC gene. In summary, benign thyroid disorders are common in FAP, yet, TC is an uncommon phenomenon. Certain patient subset, such as young female with APC mutation at the 5' end, might benefit from routine surveillance ultrasound.
Collapse
Affiliation(s)
- Jirat Chenbhanich
- Department of Internal Medicine, MetroWest Medical Center, 115 Lincoln St., Framingham, MA, 01702, USA.
| | - Amporn Atsawarungruangkit
- Department of Internal Medicine, MetroWest Medical Center, 115 Lincoln St., Framingham, MA, 01702, USA
| | - Sira Korpaisarn
- Section of Endocrinology, Diabetes, Nutrition and Weight Management, Boston Medical Center, Boston, MA, 02118, USA
| | - Tanit Phupitakphol
- Department of Internal Medicine, MetroWest Medical Center, 115 Lincoln St., Framingham, MA, 01702, USA
| | - Soravis Osataphan
- Research Division, Joslin Diabetes Center, Boston, MA, 02215, USA.,Department of Pathology, Faculty of Medicine, Srinakharinwirot University, Bangkok, 10110, Thailand
| | - Prasit Phowthongkum
- Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand
| |
Collapse
|
|
14
|
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: 52] [Impact Index Per Article: 6.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
|
|
15
|
Casellas-Cabrera N, Díaz-Algorri Y, Carlo-Chévere VJ, González-Pons M, Rodríguez-Mañón N, Pérez-Mayoral J, Bertrán-Rodríguez C, Soto-Salgado M, Giardiello FM, Rodríguez-Quilichini S, Cruz-Correa M. Risk of thyroid cancer among Caribbean Hispanic patients with familial adenomatous polyposis. Fam Cancer 2016; 15:267-74. [PMID: 26690363 DOI: 10.1007/s10689-015-9862-4] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/27/2023]
Abstract
Familial adenomatous polyposis (FAP) is an inherited form of colorectal cancer characterized by hundreds of adenomatous polyps in the colon and rectum. FAP is also associated with thyroid cancer (TC), but the lifetime risk is still unclear. This study reports the standardized incidence ratio (SIR) of TC in Hispanic FAP patients. TC incidence rates in patients with FAP between the periods of January 1, 2006 to December 31, 2013 were compared with the general population through direct database linkage from the Puerto Rico Central Cancer Registry (PRCCR) and the Puerto Rico Familial Colorectal Cancer Registry (PURIFICAR). The study population consisted of 51 Hispanic patients with FAP and 3239 with TC from the general population. The SIR was calculated using the Indirect Method, defined as observed TC incidence among patients with FAP in PURIFICAR's cohort (2006-2013) divided by the expected TC incidence based on the PR population rates (2006-2010). SIR values were estimated by sex (male, female, and overall). This study received IRB approval (protocol #A2210207). In Hispanic patients with FAP, the SIR (95% CI) for TC was 251.73 (51.91-735.65), with higher risk for females 461.18 (55.85-1665.94) than males 131.91 (3.34-734.95). Hispanic FAP patients are at a high risk for TC compared to the general population. Our incidence rates are higher than previous studies, suggesting that this community may be at a higher risk for TC than previously assumed. Implementation of clinical surveillance guidelines and regular ultrasound neck screening in Hispanic FAP patients is recommended.
Collapse
Affiliation(s)
- Nicolás Casellas-Cabrera
- University of Puerto Rico Comprehensive Cancer Center, PMB 711 Ave. 89 Ste. 105, San Juan, PR, 00927-6346, USA
| | - Yaritza Díaz-Algorri
- University of Puerto Rico Comprehensive Cancer Center, PMB 711 Ave. 89 Ste. 105, San Juan, PR, 00927-6346, USA
| | - Víctor J Carlo-Chévere
- Puerto Rico Pathology, 1760 Calle Loíza Cond. Madrid Suite 206, San Juan, PR, 00911, USA
| | - María González-Pons
- University of Puerto Rico Comprehensive Cancer Center, PMB 711 Ave. 89 Ste. 105, San Juan, PR, 00927-6346, USA
- UPR/MDACC Partnership for Excellence in Cancer Research Program, University of Puerto Rico, Medical Sciences Campus, PMB 371 PO BOX 70344, San Juan, PR, 00936-8344, USA
| | - Natalia Rodríguez-Mañón
- University of Puerto Rico Comprehensive Cancer Center, PMB 711 Ave. 89 Ste. 105, San Juan, PR, 00927-6346, USA
- UPR/MDACC Partnership for Excellence in Cancer Research Program, University of Puerto Rico, Medical Sciences Campus, PMB 371 PO BOX 70344, San Juan, PR, 00936-8344, USA
| | - Julyann Pérez-Mayoral
- University of Puerto Rico Comprehensive Cancer Center, PMB 711 Ave. 89 Ste. 105, San Juan, PR, 00927-6346, USA
| | - Carlos Bertrán-Rodríguez
- University of Puerto Rico Comprehensive Cancer Center, PMB 711 Ave. 89 Ste. 105, San Juan, PR, 00927-6346, USA
| | - Marievelisse Soto-Salgado
- UPR/MDACC Partnership for Excellence in Cancer Research Program, University of Puerto Rico, Medical Sciences Campus, PMB 371 PO BOX 70344, San Juan, PR, 00936-8344, USA
- Doctoral Program in Public Health with Specialty in Social Determinants of Health, Department of Social Sciences, Graduate School of Public Health, University of Puerto Rico, Medical Sciences Campus, PO BOX 365067, San Juan, PR, 00936-5067, USA
| | - Francis M Giardiello
- Division of Gastroenterology, Department of Medicine, Johns Hopkins University, 600 N. Wolfe Street Sheikh Zayed Tower, Baltimore, MD, 21287, USA
| | - Segundo Rodríguez-Quilichini
- Department of Surgery, University of Puerto Rico, Medical Sciences Campus, PO BOX 365067, San Juan, PR, 00936-5067, USA
| | - Marcia Cruz-Correa
- University of Puerto Rico Comprehensive Cancer Center, PMB 711 Ave. 89 Ste. 105, San Juan, PR, 00927-6346, USA.
- Department of Medicine, University of Puerto Rico, Medical Sciences Campus, PO BOX 365067, San Juan, PR, 00936-5067, USA.
- Department of Biochemistry, University of Puerto Rico, Medical Sciences Campus, PO BOX 365067, San Juan, PR, 00936-5067, USA.
- Department of Surgery, University of Puerto Rico, Medical Sciences Campus, PO BOX 365067, San Juan, PR, 00936-5067, USA.
- UPR/MDACC Partnership for Excellence in Cancer Research Program, University of Puerto Rico, Medical Sciences Campus, PMB 371 PO BOX 70344, San Juan, PR, 00936-8344, USA.
- Division of Gastroenterology, Department of Medicine, Johns Hopkins University, 600 N. Wolfe Street Sheikh Zayed Tower, Baltimore, MD, 21287, USA.
| |
Collapse
|
|
16
|
Lawson CE, Attard TM, Dai H, Septer S. Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening. J Genet Couns 2016; 26:586-593. [DOI: 10.1007/s10897-016-0030-2] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/03/2014] [Accepted: 10/03/2016] [Indexed: 12/11/2022]
|
|
17
|
Uchino S, Ishikawa H, Miyauchi A, Hirokawa M, Noguchi S, Ushiama M, Yoshida T, Michikura M, Sugano K, Sakai T. Age- and Gender-Specific Risk of Thyroid Cancer in Patients With Familial Adenomatous Polyposis. J Clin Endocrinol Metab 2016; 101:4611-4617. [PMID: 27623068 DOI: 10.1210/jc.2016-2043] [Citation(s) in RCA: 31] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/05/2023]
Abstract
CONTEXT The cribriform-morula variant of papillary thyroid carcinoma (CMV-PTC) is a rare variant of PTC and is associated with familial adenomatous polyposis (FAP). However, the incidence and the nature of CMV-PTC among FAP patients have not been well characterized. OBJECTIVE The aim of this study was to determine the incidence and characteristics of thyroid cancer screened by neck ultrasonography for FAP patients. Design, Patients, and Intervention: A total of 129 FAP patients were included in this study. Neck ultrasonography was performed using a 12.0-MHz transducer probe. Germline APC gene mutation was examined for by the protein truncation test or DNA sequencing methods. DESIGN, PATIENTS, AND INTERVENTION A total of 129 FAP patients were included in this study. Neck ultrasonography was performed using a 12.0-MHz transducer probe. Germline APC gene mutation was examined for by the protein truncation test or DNA sequencing methods. RESULTS Twenty-one patients (16.3%) had solid nodules, and 24 patients (18.6%) had benign cystic nodules. In total, PTC was found in 11 patients (16% of the women and 0% of the men), 8 of which were CMV-PTC and the rest were classical PTC. In 17 female patients with thyroid nodules, CMV-PTC occurred in 8 of 9 patients who were 35 years age or younger but in none of the 8 patients who were older than 35 (P = .0004 by Fisher's exact test). The APC germline mutations in 8 patients with CMV-PTC were present at the 5' side of the profuse type of FAP region (codons 1249-1330). CONCLUSIONS The prevalence of CMV-PTC in FAP patients was higher than previously reported and this type of tumor was found preferentially in younger (under age 35) female patients with FAP in this cohort.
Collapse
Affiliation(s)
- Shinya Uchino
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| | - Hideki Ishikawa
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| | - Akira Miyauchi
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| | - Mitsuyoshi Hirokawa
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| | - Shiro Noguchi
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| | - Mineko Ushiama
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| | - Teruhiko Yoshida
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| | - Masahito Michikura
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| | - Kokichi Sugano
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| | - Toshiyuki Sakai
- Noguchi Thyroid Clinic and Hospital Foundation (S.U., S.N.), Oita, Japan 874-0902; Department of Molecular-Targeting Cancer Prevention (H.I., T.S.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan 602-0841; Ishikawa Gastrointestinal Clinic (H.I., M.M.), Osaka, Japan 541-0042; Kuma Hospital (A.M., M.H.), Kobe, Japan 650-0011; Division of Genetics (M.U., T.Y.), National Cancer Center Research Institute, Tokyo, Japan 104-0045; and Oncogene Research Unit/Cancer Prevention Unit (K.S.), Tochigi Cancer Center, Utsunomiya, Japan 320-0834
| |
Collapse
|
|
18
|
Alexander AAZ, Patel AA, Odland R. Paranasal Sinus Osteomas and Gardner's Syndrome. Ann Otol Rhinol Laryngol 2016; 116:658-62. [DOI: 10.1177/000348940711600906] [Citation(s) in RCA: 28] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]
Abstract
Objectives: Osteomas are common benign tumors of the paranasal sinuses. The origin of these lesions is uncertain. Although most are asymptomatic, symptoms can include headaches, facial pain, rhinorrhea, and sinusitis. Osteomas are also seen as part of Gardner's syndrome, an autosomal dominant disease characterized by intestinal polyposis, osteomas, and cutaneous and soft tissue tumors. In affected individuals, the risk of developing colon cancer approaches 100%. On average, osteomas are detected 17 years before colon polyps appear. Methods: Three patients with maxillary or ethmoid osteomas and chronic sinusitis are presented. Results: One of the patients had evidence of Gardner's syndrome, based on the presence of gastrointestinal symptoms and a positive family history of polyposis. Conclusions: Otolaryngologists should be aware of the possibility of Gardner's syndrome in patients with paranasal sinus osteomas. Suspected patients should have a complete workup for Gardner's syndrome, including lower gastrointestinal tract endoscopy, barium enema imaging, and DNA testing.
Collapse
|
|
19
|
FAP Associated Papillary Thyroid Carcinoma: A Peculiar Subtype of Familial Nonmedullary Thyroid Cancer. PATHOLOGY RESEARCH INTERNATIONAL 2015; 2015:309348. [PMID: 26697262 PMCID: PMC4678079 DOI: 10.1155/2015/309348] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Received: 07/30/2015] [Accepted: 11/08/2015] [Indexed: 12/26/2022]
Abstract
Familial Nonmedullary Thyroid Carcinoma (FNMTC) makes up to 5–10% of all thyroid cancers, also including those FNMTC occurring as a minor component of familial cancer syndromes, such as Familial Adenomatous Polyposis (FAP). We give evidence that this extracolonic manifestation of FAP is determined by the same germline mutation of the APC gene responsible for colonic polyps and cancer but also shows some unusual features (F : M ratio = 80 : 1, absence of LOH for APC in the thyroid tumoral tissue, and indolent biological behaviour, despite frequent multicentricity and lymph nodal involvement), suggesting that the APC gene confers only a generic susceptibility to thyroid cancer, but perhaps other factors, namely, modifier genes, sex-related factors, or environmental factors, are also required for its phenotypic expression. This great variability is against the possibility of classifying all FNMTC as a single entity, not only with a unique or prevalent causative genetic factor, but also with a unique or common biological behavior and a commonly dismal prognosis. A new paradigm is also suggested that could be useful (1) for a proper classification of FAP associated PTC within the larger group of FNMTC and (2) for making inferences to sporadic carcinogenesis, based on the lesson from FAP.
Collapse
|
|
20
|
Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer. Sci Rep 2015; 5:16129. [PMID: 26530882 PMCID: PMC4632085 DOI: 10.1038/srep16129] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/09/2015] [Accepted: 10/08/2015] [Indexed: 01/13/2023] Open
Abstract
Some studies have demonstrated that familial non-medullary thyroid cancer (FNMTC) has a more aggressive clinical behavior compared to sporadic NMTC (SNMTC). However, FNMTC is difficult to differentiate from SNMTC by the morphology and immunohistochemistry. Although genes responsible for FNMTC were unclear, screening for rare germline mutations on known important tumor suppressor genes might offer more insights on predicting susceptibility to FNMTC. Here, a customized panel was designed to capture all exons of 31 cancer susceptive genes possibly related to FNMTC. Using next-generation sequencing we performed deep sequencing to achieve 500× coverage of the targeted regions. At the end 45 variants were identified in 29 of 47 familial patients and 6 of 16 sporadic patients. Notably, several germline mutations were found matching between paired FNMTC patients from the same family, including APC L292F and A2778S, BRAF D22N, MSH6 G355S and A36V, MSH2 L719F, MEN1 G508D, BRCA1 SS955S, BRCA2 G2508S, and a GNAS inframe insertion. We demonstrated a novel approach to help diagnose and elucidate the genetic cause of the FNMTC patients, and assess whether their family members are exposed to a higher genetic risk. The findings would also provide insights on monitoring the potential second cancers for thyroid cancer patients.
Collapse
|
|
21
|
Cribriform-morular variant of papillary thyroid carcinoma. Pathol Res Pract 2015; 211:712-6. [DOI: 10.1016/j.prp.2015.04.011] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/15/2014] [Revised: 04/16/2015] [Accepted: 04/24/2015] [Indexed: 11/24/2022]
|
|
22
|
Perea Del Pozo E, Ramirez Plaza C, Padillo Ruiz J, Martos Martínez JM. Cribiform variant of papillary thyroid cancer and familial adenomatous polyposis. Int J Surg Case Rep 2015; 16:192-4. [PMID: 26521198 PMCID: PMC4643333 DOI: 10.1016/j.ijscr.2015.08.013] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/27/2015] [Revised: 08/11/2015] [Accepted: 08/11/2015] [Indexed: 12/27/2022] Open
Abstract
Cribriform papillary carcinoma is a type of thyroid carcinoma with a very characteristic epidemiology. The need for screening in women diagnosed with FAP. The suspect this cell line in patients who meet requirements improves diagnosis. Convenience microscopic examination to differentiate the peculiar histology of the tumour. Background Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome characterised by the progressive development of multiple colorectal adenomatous polyps and an increased incidence of colorectal carcinoma. It is often accompanied by other benign or malignant extracolonic manifestations, including gastric and duodenal tumours, osteomas, desmoid tumours, retinal pigmentation, and thyroid and adrenocortical tumours Methods and results We report the case of a 42-year-old white female with FAP who was referred to our Endocrine Surgery Unit for surgery because of a palpable mass in the left side of the neck. An ultrasound-guided fine needle aspiration biopsy showed a cribriform-morular variant (CMV) of papillary thyroid carcinoma (PTC). The incidence, clinical presentation, histology and treatment options for this rare histological subtype are discussed. Conclusions The diagnosis of CMV of PTC is very strongly related to the FAP syndrome and must be suspected when a thyroid node appears in FAP patients. Likewise, any patient without known FAP who presents this histology in a surgically biopsied or resected thyroid node should undergo total colonoscopy for screening of colonic polyposis and genetic study of the APC gene sequence.
Collapse
Affiliation(s)
- E Perea Del Pozo
- General and Digestive Surgery Service, University Hospital Virgen del Rocio, Av Manuel Siurot s/n, c/Compas del Porvenir nº3, CP 41013 Seville, Spain.
| | - C Ramirez Plaza
- General and Digestive Surgery Service, Hospital Quirón Málaga, Avenida Imperio Argentina, n◦ 1, Málaga CP 29004, Spain
| | - J Padillo Ruiz
- General and Digestive Surgery Service, University Hospital Virgen del Rocio, Av Manuel Siurot s/n, CP 41013 Seville, Spain
| | - J M Martos Martínez
- General and Digestive Surgery Service, University Hospital Virgen del Rocio, Av Manuel Siurot s/n, CP 41013 Seville, Spain
| |
Collapse
|
|
23
|
Kumamoto K, Ishida H, Ohsawa T, Ishibashi K, Ushiama M, Yoshida T, Iwama T. Germline and somatic mutations of the APC gene in papillary thyroid carcinoma associated with familial adenomatous polyposis: Analysis of three cases and a review of the literature. Oncol Lett 2015; 10:2239-2243. [PMID: 26622826 DOI: 10.3892/ol.2015.3578] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2014] [Accepted: 07/07/2015] [Indexed: 02/07/2023] Open
Abstract
Patients with familial adenomatous polyposis (FAP), which is caused by the dysfunction of the adenomatous polyposis coli (APC) protein, have the possibility of developing extracolonic manifestations, including thyroid cancer (TC), congenital hypertrophy of the retinal pigment epithelium, desmoid tumors, and gastric and duodenal adenomas. The pathogenesis of these disorders associated with FAP is considered to be affected by the site of the germline mutation on the APC gene as a genotype-phenotype correlation. Moreover, β-catenin binding sites consist of 20-amino acid repeats (20-AARs) in the APC protein, and they are essential for the development of colorectal adenomas and certain other extracolonic manifestations. The present study retrospectively analyzed the germline and somatic mutations of the APC gene in three papillary TC patients with FAP to analyze the association between the remaining number of 20-AARs and the development of TC. The mutation sites of two TCs did not include 20-AARs in each allele. In one patient, the remaining number of 20-AARs was two in the germline mutation and zero in the somatic mutation. Together with the data on 13 FAP-associated thyroid cancerous lesions in 3 FAP patients reported previously, the majority of the remaining numbers of 20-AARs was zero in the TC patients with FAP (13/16; 81.3%). Consequently, the APC/β-catenin signaling pathway may be strongly involved with the pathogenesis of TC with FAP. Further accumulation of FAP patients with TC will be required to confirm the molecular pathogenesis of TC.
Collapse
Affiliation(s)
- Kensuke Kumamoto
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama 350-8550, Japan
| | - Hideyuki Ishida
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama 350-8550, Japan
| | - Tomonori Ohsawa
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama 350-8550, Japan
| | - Keiichiro Ishibashi
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama 350-8550, Japan
| | - Mineko Ushiama
- Division of Genetics, National Cancer Center Research Institute, Tokyo 104-0045, Japan
| | - Teruhiko Yoshida
- Division of Genetics, National Cancer Center Research Institute, Tokyo 104-0045, Japan
| | - Takeo Iwama
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Saitama 350-8550, Japan
| |
Collapse
|
|
24
|
Cribriform-morular variant of papillary thyroid carcinoma: an indication to screen for occult FAP. Fam Cancer 2015; 13:547-51. [PMID: 24934245 DOI: 10.1007/s10689-014-9732-5] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/26/2023]
Abstract
Cribriform-morular variant (CMV) is a rare subtype of papillary thyroid carcinoma (PTC) that is associated with familial adenomatous polyposis (FAP). Given the high likelihood for multi-organ malignancies in FAP patients, this study explores the yield of diagnosing occult FAP among CMV-PTC patients. Institutional database was searched in order to identify patients with pathologically-confirmed CMV-PTC from 2000 to 2012. Medical records were reviewed, and clinical and pathological features were analyzed. Eleven cases of CMV were identified from 6,901 patients with PTC, for a prevalence of 0.16 %. All 11 patients were female. The median age at CMV-PTC diagnosis was 36 years (range 18-46). Two patients had pre-existing FAP at the time of PTC diagnosis. The other nine patients were referred for colonoscopy and/or genetic testing. Six patients underwent colonoscopy and one (17 %) was diagnosed with FAP based on polyposis phenotype and genetic testing. The mean age of patients at the time of CMV-PTC diagnosis was younger in the FAP group (23 years, range 18-34) than in the sporadic group (37 years, range 25-46). All three patients with FAP-associated CMV-PTC had multicentric tumors, while all five sporadic patients did not. Our study found that approximately one-sixth of patients with CMV-PTC may have occult FAP. Patients with FAP-associated CMV-PTC appear to be younger and more likely to have multicentric tumors than those with sporadic CMV-PTC. Due to the increased risk of malignancy in patients with FAP, patients with CMV-PTC should be referred for colonoscopy and/or genetic evaluation for FAP.
Collapse
|
|
25
|
Febrero B, Rodríguez JM, Ríos A, Parrilla P. [Cribiform-morular variant of papillary thyroid carcinoma as initial presentation of the familial adenomatous polyposis]. Med Clin (Barc) 2015; 144:279-80. [PMID: 25073821 DOI: 10.1016/j.medcli.2014.05.029] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/10/2014] [Revised: 05/20/2014] [Accepted: 05/22/2014] [Indexed: 11/26/2022]
Affiliation(s)
- Beatriz Febrero
- Unidad de Cirugía Endocrina, Servicio de Cirugía General, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España; Centro de Investigación Biomédica en Red en el Área temática de Enfermedades Hepáticas y Digestivas (CIBERehd), Murcia: España; Instituto Murciano de Investigación Biomédica (IMIB), Murcia: España.
| | - José Manuel Rodríguez
- Unidad de Cirugía Endocrina, Servicio de Cirugía General, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España; Centro de Investigación Biomédica en Red en el Área temática de Enfermedades Hepáticas y Digestivas (CIBERehd), Murcia: España; Instituto Murciano de Investigación Biomédica (IMIB), Murcia: España
| | - Antonio Ríos
- Unidad de Cirugía Endocrina, Servicio de Cirugía General, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España; Centro de Investigación Biomédica en Red en el Área temática de Enfermedades Hepáticas y Digestivas (CIBERehd), Murcia: España; Instituto Murciano de Investigación Biomédica (IMIB), Murcia: España
| | - Pascual Parrilla
- Unidad de Cirugía Endocrina, Servicio de Cirugía General, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España; Centro de Investigación Biomédica en Red en el Área temática de Enfermedades Hepáticas y Digestivas (CIBERehd), Murcia: España; Instituto Murciano de Investigación Biomédica (IMIB), Murcia: España
| |
Collapse
|
|
26
|
Feng X, Milas M, O'Malley M, LaGuardia L, Berber E, Jin J, Metzger R, Mitchell J, Shin J, Burke CA, Kalady M, Church J, Siperstein A. Characteristics of benign and malignant thyroid disease in familial adenomatous polyposis patients and recommendations for disease surveillance. Thyroid 2015; 25:325-32. [PMID: 25585202 DOI: 10.1089/thy.2014.0107] [Citation(s) in RCA: 26] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 10/24/2022]
Abstract
BACKGROUND Familial adenomatous polyposis (FAP) is a hereditary colon cancer syndrome that involves multiple extracolonic organs, including the thyroid. Several studies have estimated the rate of thyroid cancer in FAP to occur at five times the rate of the general population, but no current consensus defines screening for thyroid cancer in this cohort. This study seeks to define the features of benign and malignant thyroid disease in FAP patients, to compare thyroid cancer cases found through screening with those found incidentally, and to propose disease surveillance recommendations. METHODS Prospective screening for early thyroid cancer detection with thyroid ultrasound (US) was performed on FAP patients at the time of annual colonoscopy since November 2008. Clinical and US data were reviewed to characterize the observed thyroid nodules. Nonscreening-detected cases (NSD) were found through review of the colon cancer registry database. RESULTS Eighteen NSD were found, compared with 15 screening-detected (SD) cases, out of 205 total patients screened (Mage=42 years; 55% female). The mean tumor size was larger in the NSD group than the SD group (p=0.04), and they tended to demonstrate more positive lymph nodes and more complications than the SD group. In the screened cohort, at least one thyroid nodule was detected in 106 (51.7%) patients, with 90% of these seen on initial exam. A total of 40/106 (37.7%) patients required fine-needle aspiration biopsy of a dominant nodule (Msize=14 mm), and 28/40 (70%) of these were performed at the first US visit. Suspicious US features were present in 16/40 (40%) patients, including five sub-centimeter nodules. Cytology and/or nodule US was abnormal in 15/205 screened patients, leading to surgery and revealing 14 papillary and one medullary thyroid cancer. CONCLUSIONS Given the age and sex distribution of the screened cohort, this study reveals a higher-than-expected prevalence of both benign and malignant thyroid disease in the FAP population. Additionally, SD cases seemed to consist of smaller-sized cancers that required less radical therapy compared to NSD cases. Since it was found that the initial US in the screening program accounted for the majority of detected nodules (90%) and biopsies (70%), baseline and subsequent thyroid US surveillance is recommended in all FAP patients.
Collapse
Affiliation(s)
- Xiaoxi Feng
- 1 Department of General Surgery, Cleveland Clinic , Cleveland, Ohio
| | | | | | | | | | | | | | | | | | | | | | | | | |
Collapse
|
|
27
|
Lee JH, Shin JH, Lee HW, Oh YL, Hahn SY, Ko EY. Sonographic and cytopathologic correlation of papillary thyroid carcinoma variants. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2015; 34:1-15. [PMID: 25542934 DOI: 10.7863/ultra.34.1.1] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/04/2023]
Abstract
Papillary thyroid carcinoma (PTC) is the most common thyroid cancer and constitutes more than 70% of thyroid malignancies. Although TNM staging is the most widely used parameter for determination of therapeutic plans, recent studies have suggested that different histopathologic variants of PTC can also have different clinical courses and patient prognoses. Sonographic criteria for PTC are well established and include a taller-than-wide shape, an irregular margin, microcalcifications, and marked hypoechogenicity. The role of sonography has expanded to enable the characterization of PTC variants based on their sonographic features. Tall cell and diffuse sclerosing variants appear to have more aggressive clinical courses with unfavorable prognoses, whereas the more recently described cribriform-morular and Warthin-like variants have relatively indolent clinical courses. The prognoses of patients with follicular, solid, columnar cell, and oncocytic variants are still controversial and may be similar to the prognosis of conventional PTC. Understanding the sonographic characteristics of PTC variants with clinicopathologic correlation may be helpful for suggesting an appropriate treatment plan.
Collapse
Affiliation(s)
- Ji Hyun Lee
- Department of Radiology and Center for Imaging Science (J.J.L., J.H.S., S.Y.H., E.Y.K.) and Department of Pathology (H.-W.L., Y.L.O.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
| | - Jung Hee Shin
- Department of Radiology and Center for Imaging Science (J.J.L., J.H.S., S.Y.H., E.Y.K.) and Department of Pathology (H.-W.L., Y.L.O.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Hyun-Woo Lee
- Department of Radiology and Center for Imaging Science (J.J.L., J.H.S., S.Y.H., E.Y.K.) and Department of Pathology (H.-W.L., Y.L.O.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Young Lyun Oh
- Department of Radiology and Center for Imaging Science (J.J.L., J.H.S., S.Y.H., E.Y.K.) and Department of Pathology (H.-W.L., Y.L.O.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Soo Yeon Hahn
- Department of Radiology and Center for Imaging Science (J.J.L., J.H.S., S.Y.H., E.Y.K.) and Department of Pathology (H.-W.L., Y.L.O.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Eun Young Ko
- Department of Radiology and Center for Imaging Science (J.J.L., J.H.S., S.Y.H., E.Y.K.) and Department of Pathology (H.-W.L., Y.L.O.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| |
Collapse
|
|
28
|
Fujimoto T, Hirokawa M, Ota H, Yabuta T, Fukushima M, Kobayashi K, Amino N, Miyauchi A. Characteristic sonographic features of cribriform papillary thyroid carcinoma for differentiation from other thyroid nodules. J Med Ultrason (2001) 2014; 42:83-7. [PMID: 26578494 DOI: 10.1007/s10396-014-0555-7] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/01/2014] [Accepted: 05/28/2014] [Indexed: 11/30/2022]
Abstract
PURPOSE The purpose of this paper is to clarify the sonographic features and differential diagnoses of the cribriform variant of papillary thyroid carcinoma (CV-PTC). METHODS We retrospectively reviewed 24 nodules obtained from 22 CV-PTC cases. As control groups, we chose 50 cases each of conventional papillary carcinoma (C-PTC), follicular tumor, and nodular goiter. RESULTS All of the cases were young women aged 35 years or younger. Serum thyroglobulin levels were normal or slightly elevated. The incidences of smooth or focal jagged margin, hypoechoic nodule, lateral shadow, posterior acoustic enhancement, poor marginal and internal vascularity, and no microcalcification were 100, 100, 91.7, 95.8, 100, and 95.8 %, respectively. The sensitivity and specificity of the requirement were 87.5 and 92.5 %, respectively. Sonographic findings of CV-PTC were similar to those of follicular tumor or nodular goiter rather than C-PTC. CONCLUSION The criteria for suspecting CV-PTC we proposed provided high sensitivity and specificity. We should be aware that the sonographic findings of CV-PTC are similar to those of follicular tumor or nodular goiter rather than C-PTC. Clinical findings including gender, age, and serum thyroglobulin level may provide us with useful information.
Collapse
Affiliation(s)
- Tomoko Fujimoto
- Department of Clinical Laboratory, Kuma Hospital, 8-2-35 Shimoyamate-dori, Chuo-Ku, Kobe, Hyogo, 650-0011, Japan.
| | | | - Hisashi Ota
- Department of Clinical Laboratory, Kuma Hospital, 8-2-35 Shimoyamate-dori, Chuo-Ku, Kobe, Hyogo, 650-0011, Japan
| | | | | | | | - Nobuyuki Amino
- Department of Internal Medicine, Kuma Hospital, Kobe, Hyogo, Japan
| | - Akira Miyauchi
- Department of Surgery, Kuma Hospital, Kobe, Hyogo, Japan
| |
Collapse
|
|
29
|
Steinhagen E, Hui VW, Levy RA, Markowitz AJ, Fish S, Wong RJ, Sood R, Ochman SM, Guillem JG. Results of a prospective thyroid ultrasound screening program in adenomatous polyposis patients. Am J Surg 2014; 208:764-769. [PMID: 25073656 DOI: 10.1016/j.amjsurg.2014.03.012] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/19/2013] [Revised: 03/23/2014] [Accepted: 03/29/2014] [Indexed: 12/16/2022]
Abstract
BACKGROUND Patients with adenomatous polyposis may be at increased risk for developing thyroid cancer (TC). However, screening guidelines for TC in these patients are not well established. METHODS Patients with a diagnosis of familial adenomatous polyposis, attenuated familial adenomatous polyposis, and gene mutation-negative adenomatous polyposis enrolled in our Hereditary Colorectal Cancer Family Registry were eligible for a screening thyroid ultrasound (US). Findings were reviewed by the study endocrinologist and intervention and/or follow-up determined. RESULTS Fifty patients underwent screening thyroid US. Thirty-four (68%) patients had abnormal findings on US, including 27 (79%) with thyroid nodules. In 7 patients, US-detected thyroid nodules met established criteria for fine-needle aspiration. Of the 6 patients who underwent fine-needle aspiration, 2 (4%) were diagnosed with papillary TC. Both of these patients were female. CONCLUSIONS A large proportion of adenomatous polyposis patients will have abnormal results on thyroid US, including suspicious-appearing thyroid nodules that when biopsied are malignant. Female patients have an apparently greater risk of developing TC. Polyposis patients, especially women, should be offered participation in a thyroid US screening program.
Collapse
Affiliation(s)
- Emily Steinhagen
- Department of Surgery, Colorectal Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
| | - Vanessa W Hui
- Department of Surgery, Colorectal Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
| | - Rachel A Levy
- Department of Surgery, Colorectal Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
| | - Arnold J Markowitz
- Department of Medicine, Gastroenterology and Nutrition Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
| | - Stephanie Fish
- Department of Medicine, Endocrinology Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
| | - Richard J Wong
- Department of Surgery, Head and Neck Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
| | - Rupa Sood
- Department of Surgery, Colorectal Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
| | - Stephanie M Ochman
- Department of Surgery, Colorectal Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
| | - José G Guillem
- Department of Surgery, Colorectal Service, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.
| |
Collapse
|
|
30
|
Punatar SB, Noronha V, Joshi A, Prabhash K. Thyroid cancer in Gardner's syndrome: Case report and review of literature. South Asian J Cancer 2014; 1:43-7. [PMID: 24455508 PMCID: PMC3876602 DOI: 10.4103/2278-330x.96510] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/14/2022] Open
Abstract
Gardner’s syndrome is a variant of familial adenomatous polyposis. A multitude of extra-colonic manifestations including various endocrine tumors have been associated with this syndrome, the commonest of which is thyroid cancer. Majority of the patients with thyroid cancer and Gardner’s syndrome are females. Here we describe a male patient with Gardner’s syndrome who subsequently developed thyroid cancer.
Collapse
Affiliation(s)
- Sachin B Punatar
- Department of Medical Oncology, Tata Memorial Hospital, Mumbai, India
| | - Vanita Noronha
- Department of Medical Oncology, Tata Memorial Hospital, Mumbai, India
| | - Amit Joshi
- Department of Medical Oncology, Tata Memorial Hospital, Mumbai, India
| | - Kumar Prabhash
- Department of Medical Oncology, Tata Memorial Hospital, Mumbai, India
| |
Collapse
|
|
31
|
Septer S, Slowik V, Morgan R, Dai H, Attard T. Thyroid cancer complicating familial adenomatous polyposis: mutation spectrum of at-risk individuals. Hered Cancer Clin Pract 2013; 11:13. [PMID: 24093640 PMCID: PMC3854022 DOI: 10.1186/1897-4287-11-13] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/02/2013] [Accepted: 09/30/2013] [Indexed: 12/30/2022] Open
Abstract
Background Lifetime risk of thyroid cancer associated with FAP has been reported as 1-2%. The mean age at diagnosis of thyroid carcinoma in FAP has been reported at 28 years. The aims of this paper are to better understand gene mutations associated with thyroid cancer and refine surveillance recommendations for patients with FAP. Methods We performed a search in Pubmed, Ovid Medline and Embase with the terms ("Thyroid Gland"[Mesh] OR "Thyroid Neoplasms"[Mesh]) AND "Adenomatous Polyposis Coli"[Meshdenomatous Polyposis Coli"[Mesh] to identify subjects with thyroid cancer and FAP. As a reference group for APC mutations in the unselected FAP population, we used the UMD-APC database referenced in the Orphanet portal, which includes APC mutation data on 2040 individuals with FAP. Results There were 115 reported cases of thyroid cancer in patients with FAP (95 female: 11 male) with an average age of 29.2 years. Gene mutation testing results were reported in 48 patients. On comparing the prevalence of APC mutation in the population of FAP patients with thyroid cancer and the prevalence of the same mutation in the reference population an increased odds ratio was evident in individuals harboring an APC mutation at codon 1061 (OR: CI 4.1: 1.7-8.9). Analysis of the prevalence of thyroid cancer in individuals with FAP segregated by the region of the gene affected shows an increased risk of thyroid cancer in individuals harboring mutations proximal to codon 512 (OR 2.6, p 0.0099). Conclusions There is increased risk for thyroid cancer in individuals with APC mutations at the 5' end (proximal to codon 528) along with the established high risk group harboring mutation at codon 1061. It is suggested that these patients might benefit from directed surveillance by annual ultrasound from age 18 years onwards.
Collapse
Affiliation(s)
- Seth Septer
- Section of Pediatric Gastroenterology, Children's Mercy Hospital, Kansas City, MO, USA.
| | | | | | | | | |
Collapse
|
|
32
|
Abstract
Recent molecular studies have described a number of abnormalities associated with the pathogenesis of thyroid carcinoma. These distinct molecular events are often associated with specific stages of tumor development and may serve as prognostic factors and therapeutic targets. A better understanding of the mechanisms involved in thyroid cancer pathogenesis, will hopefully help translate these discoveries to improved patient care.
Collapse
Affiliation(s)
- Kepal N Patel
- Thyroid Cancer Interdisciplinary Program, Division of Endocrine Surgery, NYU Langone Medical Center, New York, NY, USA.
| |
Collapse
|
|
33
|
Chong Y, Shin JH, Oh YL, Han BK, Ko EY. Cribriform-morular variant of papillary thyroid carcinoma: ultrasonographic and clinical characteristics. Thyroid 2013; 23:45-9. [PMID: 22892017 DOI: 10.1089/thy.2011.0534] [Citation(s) in RCA: 18] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/12/2022]
Abstract
BACKGROUND The cribriform-morular variant of papillary thyroid carcinoma (cmvPTC) is rare. There are few if any studies of the ultrasonographic (US) features of cmvPTC. The aim of this study was to determine the characteristic US and clinical features of the cmvPTC. METHODS A retrospective review of the US and clinical features was performed on 18 surgically confirmed cmvPTCs in five patients who were seen at our institution between January 2000 and December 2010. RESULTS All patients were female with a mean age of 28 years (range, 19-46 years). Two patients presented with palpable lesions, and the other patients were incidentally detected during screening US. On US, the majority of nodules had well-defined, oval to round shapes, and were hypoechoic and solid without calcifications. However, 6 (33.3%) of 18 nodules did have a cystic change. The size of the lesions varied from 0.3 to 3.0 cm (mean, 1.11 cm). None of the nodules were diagnosed as malignant based on the US criteria, but all except one patient had a cytology of their thyroid nodules that was read as malignant, without revealing the subtype of their PTC. Two of the five patients had familial adenomatous polyposis (FAP), and they had bilateral multiple nodules. No metastatic lymph nodes or extrathyroidal extension were identified. To date, none of the patients has had recurrence or metastasis during their mean follow-up of 25 months after thyroidectomy. CONCLUSION It appears that most cases of cmvPTC do not have features of malignancy on US and that they are indolent tumors as far as their clinical and histological features are concerned.
Collapse
Affiliation(s)
- Yousun Chong
- Department of Radiology, Sungkyunkwan University School of Medicine, Seoul, Korea
| | | | | | | | | |
Collapse
|
|
34
|
Steinhagen E, Guillem JG, Chang G, Salo-Mullen EE, Shia J, Fish S, Stadler ZK, Markowitz AJ. The Prevalence of Thyroid Cancer and Benign Thyroid Disease in Patients With Familial Adenomatous Polyposis May Be Higher Than Previously Recognized. Clin Colorectal Cancer 2012; 11:304-8. [DOI: 10.1016/j.clcc.2012.01.006] [Citation(s) in RCA: 46] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/23/2011] [Revised: 01/25/2012] [Accepted: 01/27/2012] [Indexed: 11/27/2022]
|
|
35
|
Gronnier C, Donatini G, Leteurtre E, Do Cao C, Carnaille B. Cribriform-morular variant of papillary thyroid carcinoma: Characteristic histologic feature of adenomatous polyposis. A case report. ANNALES D'ENDOCRINOLOGIE 2012; 73:213-5. [DOI: 10.1016/j.ando.2012.01.003] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/20/2011] [Revised: 12/20/2011] [Accepted: 01/10/2012] [Indexed: 12/28/2022]
|
|
36
|
Rossi ED, Revelli L, Martini M, Taddei A, Pintus C, Panunzi C, Fadda G. Cribriform-Morular Variant of Papillary Thyroid Carcinoma in an 8-Year-Old Girl. Int J Surg Pathol 2012; 20:629-32. [DOI: 10.1177/1066896912441830] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022]
Abstract
The description of the histological features and the immunohistochemical and molecular analyses of a case of cribriform-morular variant of papillary thyroid carcinoma in an 8-year-old girl with a family history of adenomatous polyposis is presented. The neoplasm was multifocal and bilateral, with a mixed pattern of solid, trabecular, and morular areas. The neoplasm showed angioinvasive behavior, extracapsular infiltration with extension to the perythyroidal muscles, and lymph node metastases. Tumor cells were positive for CAM 5.2, cytokeratins 5/6, TTF-1, HBME-1, galectin-3, and β-catenin. In addition, the molecular tests did not reveal BRAF mutations, RET/PTC rearrangement, APC mutation, or KRAS mutation.
Collapse
Affiliation(s)
| | - Luca Revelli
- Università Cattolica Del Sacro Cuore, Rome, Italy
| | | | | | | | | | - Guido Fadda
- Università Cattolica Del Sacro Cuore, Rome, Italy
| |
Collapse
|
|
37
|
Triggiani V, Guastamacchia E, Renzulli G, Giagulli VA, Tafaro E, Licchelli B, Resta F, Sabbà C, Bagnulo R, Lastella P, Stella A, Resta N. Papillary thyroid carcinoma in Peutz-Jeghers syndrome. Thyroid 2011; 21:1273-7. [PMID: 21877933 DOI: 10.1089/thy.2011.0063] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/28/2022]
Abstract
BACKGROUND Peutz-Jeghers syndrome (PJS) is a rare dominantly inherited disease characterized by the association of gastrointestinal hamartomatous polyposis, mucocutaneous hyperpigmentation, and increased risk of cancer at different target organs. Its occurrence with differentiated thyroid cancer, particularly papillary thyroid carcinoma (PTC), even if rare, has been described. SUMMARY We here present a case of PTC observed in a PJS patient and a review of the literature aiming at discussing the utility of thyroid surveillance in the management of these patients. A 22-year-old woman presenting with hyperpigmented lesions of the lips and hamartomatous polyps in the stomach, duodenum, jejunum, and ileum, leading to the suspicion of PJS, was submitted to genetic analysis. Mutation scanning of the Liver Kinase B1 (LKB1) gene identified the presence of the truncating mutation E265X, thus confirming the clinical diagnosis. Beside the endoscopic, radiologic, and echographic evaluations required by the standard surveillance guidelines, the patient had a neck ultrasound (US), which showed a 5×4×6 mm hypoechoic nodule in the right thyroid lobe. The nodule contained microcalcifications and a perinodular vascular pattern. The cytological preparations derived from US-guided fine-needle aspiration biopsy of the nodule demonstrated the presence of PTC. The patient underwent a video-assisted total thyroidectomy and the histological examination revealed a follicular variant of papillary microcarcinoma. Radioactive iodine therapy was not performed because of the small size of the lesion. The patient was started on levothyroxine therapy to keep the serum thyrotropin levels suppressed. Both the sequencing and the multiplex ligation-dependent probe amplification analysis could not identify any LKB1 mutation in the tumor specimen, and the methylation-specific polymerase chain reaction assay excluded hypermethylation of the LKB1 promoter as the mechanism of inactivation for the remaining normal allele in the tumor. CONCLUSIONS Although other mechanisms of LKB1 silencing may be responsible for its inactivation in the thyroid cancer, we cannot rule out that the occurrence of thyroid carcinoma could be a coincidental finding in this patient. However, the case here presented suggests that US of the thyroid could possibly become an integral part of the evaluation and the follow-up program adopted for PJS patients.
Collapse
Affiliation(s)
- Vincenzo Triggiani
- Endocrinology and Metabolic Diseases, Aldo Moro University of Bari, Bari, Italy.
| | | | | | | | | | | | | | | | | | | | | | | |
Collapse
|
|
38
|
Hassell LA, Gillies EM, Dunn ST. Cytologic and molecular diagnosis of thyroid cancers. Cancer Cytopathol 2011; 120:7-17. [DOI: 10.1002/cncy.20186] [Citation(s) in RCA: 26] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/15/2011] [Revised: 06/06/2011] [Accepted: 06/15/2011] [Indexed: 01/08/2023]
|
|
39
|
Kalady MF, Church JM. Monitoring and Management of Desmoids and Other Extracolonic Manifestations in Familial Adenomatous Polyposis. SEMINARS IN COLON AND RECTAL SURGERY 2011. [DOI: 10.1053/j.scrs.2010.12.011] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
|
|
40
|
Abstract
OBJECTIVE Clarify the incidence of thyroid cancer in patients with Familial adenomatous polyposis (FAP) in a prospective study of thyroid neck US screening. BACKGROUND FAP is a hereditary disease predisposing to cancer in multiple organs, including the thyroid. However, routine thyroid screening for FAP patients is not generally practiced in the United States. Here, we report the initial results of a prospective thyroid cancer screening program in patients with FAP. METHODS At the time of yearly gastrointestinal follow-up, every FAP patient in our registry was offered thyroid ultrasound (US) performed by experienced endocrine surgeons. Clinical findings related to thyroid disease were analyzed for those patients who completed screening from August 2008 to December 2009. RESULTS : Of 192 screened FAP patients, 72 (38%) had thyroid nodules and 5 (2.6%) had thyroid cancer. Three of 5 patients with FAP and thyroid cancer were women. Four of 5 patients had the multifocal papillary type with mean size 15 mm. Clinical history and neck exam did not detect any of the 5 cancers. CONCLUSION The incidence of thyroid cancer among FAP patients is high. Medical history and exam are inadequate to identify patients with thyroid cancer, thus thyroid screening with US is warranted.
Collapse
|
|
41
|
Familial adenomatous polyposis-rendering a diagnosis based on recognition of an unusual primary thyroid neoplasm. Case Rep Med 2011; 2011:767610. [PMID: 21423546 PMCID: PMC3056219 DOI: 10.1155/2011/767610] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/15/2010] [Accepted: 01/10/2011] [Indexed: 02/07/2023] Open
Abstract
It has been well established in the literature that the cribriform-morular variant of papillary thyroid carcinoma (CMVPTC) has been observed with higher frequency in familial adenomatous polyposis (FAP) patients. In the usual setting, patients with FAP are identified based on their germline mutations and the diagnosis of thyroid neoplasm is made after the FAP diagnosis. We herein report a case in which the recognition of a CMVPTC led to the initial diagnosis of FAP. The histological and clinical features of CMVPTC are reviewed with emphasis on its relationship to FAP.
Collapse
|
|
42
|
Ito Y, Miyauchi A, Ishikawa H, Hirokawa M, Kudo T, Tomoda C, Miya A. Our experience of treatment of cribriform morular variant of papillary thyroid carcinoma; difference in clinicopathological features of FAP-associated and sporadic patients. Endocr J 2011; 58:685-9. [PMID: 21670544 DOI: 10.1507/endocrj.ej11-0022] [Citation(s) in RCA: 46] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/23/2022] Open
Abstract
Cribriform-morular variant (CMV) is a comparably rare histological subtype of papillary thyroid carcinoma (PTC). This can be associated with familial adenomatous polyposis (FAP) due to APC gene mutations. In this study, we investigated the difference in the biological characteristics between FAP-associated and sporadic CMV. Between 1991 and 2010, 32 patients with CMV were treated in Kuma Hospital. Thirty-one of these underwent initial surgery for CMV in Kuma Hospital. Twelve patients were FAP-associated and the remaining 19 were sporadic CMV. All patients were female. Tumors of FAP-associated CMV were more frequently multiple than those of sporadic CMV. Patient age and tumor size did not differ between the two groups. Of 12 FAP-associated CMV, 5 were detected by thyroid nodule (thyroid precedent group) and 7 were detected by FAP (polyposis precedent group) as an initial manifestation. Patient age was younger and tumor size was smaller in the polyposis group than in the thyroid nodule group. All patients lacked extrathyroid extension on intraoperative finding and were node-negative on pathological examination. To date, two patients with FAP-associated CMV who initially underwent hemithyroidectomy (one in Kuma Hospital and one in another hospital) showed recurrence to the remnant thyroid during follow-up. None of the patients showed recurrence to other regions or died of carcinoma. Taken together, CMV is considered an indolent disease in our series. FAP-associated CMV showed multiple tumors more frequently than sporadic CMV. Total thyroidectomy is recommended for FAP-associated CMV, but extensive lymph node dissection is not necessary.
Collapse
Affiliation(s)
- Yasuhiro Ito
- Department of Surgery, Kuma Hospital, Kobe, Japan.
| | | | | | | | | | | | | |
Collapse
|
|
43
|
Hirokawa M, Maekawa M, Kuma S, Miyauchi A. Cribriform-morular variant of papillary thyroid carcinoma-Cytological and immunocytochemical findings of 18 cases. Diagn Cytopathol 2010; 38:890-6. [DOI: 10.1002/dc.21309] [Citation(s) in RCA: 45] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/07/2022]
|
|
44
|
Jang YH, Lim SB, Kim MJ, Chung HJ, Yoo HW, Byeon JS, Myung SJ, Lee W, Chun S, Min WK. Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis. ACTA ACUST UNITED AC 2010; 200:34-9. [PMID: 20513532 DOI: 10.1016/j.cancergencyto.2010.03.015] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/13/2009] [Revised: 03/18/2010] [Accepted: 03/22/2010] [Indexed: 12/20/2022]
Abstract
Germline mutations within the adenomatous polyposis coli (APC) gene are associated with familial adenomatous polyposis (FAP), an autosomal dominant disease predisposing individuals to colorectal cancer. Identification of APC mutations has important implications for genetic counseling and management of FAP patients. We examined the APC mutation status of 10 Korean FAP patients by polymerase chain reaction-direct sequencing method and found six APC mutations, including three novel mutations. Testing for MUTYH mutation was done for FAP patients in whom no mutation in the APC gene was identified. Three novel mutations (c.1654_1663delTCTTGGCGAG, c.3709C>T, and c.6092_6094delinsTT) and three previously reported mutations (c.3631_3632delAT, c.4438C>T, and c.4612_4613delGA) were detected. The MUTYH mutation was not detected in any of the four FAP patients without an APC mutation. This finding of three novel mutations in a group of Korean FAP patients broadens the spectrum of APC mutations.
Collapse
Affiliation(s)
- Yun Ha Jang
- Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Songpa-gu, Seoul, Korea
| | | | | | | | | | | | | | | | | | | |
Collapse
|
|
45
|
Parameswaran R, Brooks S, Sadler GP. Molecular pathogenesis of follicular cell derived thyroid cancers. Int J Surg 2010; 8:186-93. [PMID: 20097316 DOI: 10.1016/j.ijsu.2010.01.005] [Citation(s) in RCA: 40] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/04/2009] [Revised: 01/02/2010] [Accepted: 01/10/2010] [Indexed: 01/24/2023]
Abstract
Thyroid cancers are the most common endocrine malignancy. Radiation exposure, family history of thyroid cancer and some inherited conditions are the most important predisposing factors for the development of thyroid cancer. Three mitogenic signalling pathways have been described in the thyroid cell, which are influenced by various stimulatory and inhibitory hormones, growth factors and neurotransmitters. Various proto-oncogenes and oncogenes like ras, braf, trk, met and RET also play a role in the signal transduction systems. Two theories have been described in thyroid cancer pathogenesis, the foetal cell carcinogenesis theory and the more common, multistep carcinogenesis theory. The multistep carcinogenesis theory is now the accepted model in many human cancers, including thyroid cancer. The early events of tumour formation are the consequence of activation of either various growth factors or the proto-oncogenes like ras, met or ret. This results in the formation of differentiated thyroid cancers like the papillary, follicular or Hurthle cell cancers. The later stages of tumour formation involve further activation of proto-oncogenes and loss or inactivation of tumour suppressor genes like p53. Based on this theory, follicular carcinomas are generated from follicular adenomas and papillary carcinomas from precursor cells generated from thyrocytes. Anaplastic carcinoma may develop from papillary or follicular carcinoma by dedifferentiation. In this review article, we highlight the molecular pathogenesis of thyroid tumours.
Collapse
Affiliation(s)
- Rajeev Parameswaran
- Department of Endocrine Surgery, John Radcliffe Hospital, Headington, Oxford OX3 9DY, United Kingdom
| | | | | |
Collapse
|
|
46
|
Differentiated thyroid cancer associated with intestinal polyposis syndromes: A review. Head Neck 2009; 31:1511-9. [DOI: 10.1002/hed.21156] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/16/2022] Open
|
|
47
|
Cameselle-Teijeiro J, Menasce LP, Yap BK, Colaco RJ, Castro P, Celestino R, Ruíz-Ponte C, Soares P, Sobrinho-Simões M. Cribriform-morular variant of papillary thyroid carcinoma: molecular characterization of a case with neuroendocrine differentiation and aggressive behavior. Am J Clin Pathol 2009; 131:134-42. [PMID: 19095577 DOI: 10.1309/ajcp7uls0vsisbeb] [Citation(s) in RCA: 49] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/21/2022] Open
Abstract
We describe an especially aggressive case of cribriform-morular variant (C-MV) of papillary thyroid carcinoma (PTC) in a 42-year-old man with familial adenomatous polyposis who died with lung and brain metastases 17 months after thyroidectomy. The angioinvasive neoplasm combined a mixture of trabecular, solid, cribriform, and follicular patterns of growth with CD10+ morules. Follicles were devoid of colloid, and the nuclear features typical of PTC were present in some areas and missing in others. Tumor cells were positive for thyroid transcription factor-1 and, in 40% of the tumoral mass, also were positive for chromogranin and synaptophysin and were negative for thyroglobulin and calcitonin. Strong nuclear staining for beta-catenin was found in all tumor cells, as was positivity for p53 and cyclin D1. In addition to the germline heterozygous APC Ex 2-3 duplication mutation, a somatic homozygous silent p. Thr1493Thr gene variant was found in the neoplastic cells along with RET/PTC rearrangement. This tumor represents the first case of C-MV of PTC showing neuroendocrine differentiation.
Collapse
Affiliation(s)
- José Cameselle-Teijeiro
- Department of Pathology, Clinical University Hospital, Galician Health Service, Christie Hospital NHS Foundation Trust, Manchester, England
| | - Lia P. Menasce
- Departments of Histopathology, Christie Hospital NHS Foundation Trust, Manchester, England
| | - Beng K. Yap
- Clinical Oncology, Christie Hospital NHS Foundation Trust, Manchester, England
| | - Rovel J. Colaco
- Clinical Oncology, Christie Hospital NHS Foundation Trust, Manchester, England
| | - Patricia Castro
- Institute of Molecular Pathology and Immunology, University of Santiago de Compostela, Santiago de Compostela, Spain
| | - Ricardo Celestino
- Institute of Molecular Pathology and Immunology, University of Santiago de Compostela, Santiago de Compostela, Spain
| | - Clara Ruíz-Ponte
- Galician Public Foundation of Genomic Medicine, Genomic Medicine Group, CIBER-ER, University of Santiago de Compostela, Santiago de Compostela, Spain
| | - Paula Soares
- Institute of Molecular Pathology and Immunology, University of Santiago de Compostela, Santiago de Compostela, Spain
- Department of Pathology, Medical Faculty, University of Porto, Hospital São João, Porto, Portugal
| | - Manuel Sobrinho-Simões
- Institute of Molecular Pathology and Immunology, University of Santiago de Compostela, Santiago de Compostela, Spain
- Department of Pathology, Medical Faculty, University of Porto, Hospital São João, Porto, Portugal
- Department of Pathology, Hospital São João, Porto, Portugal
| |
Collapse
|
|
48
|
Groen EJ, Roos A, Muntinghe FL, Enting RH, de Vries J, Kleibeuker JH, Witjes MJH, Links TP, van Beek AP. Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 2008; 15:2439-50. [PMID: 18612695 PMCID: PMC2518080 DOI: 10.1245/s10434-008-9981-3] [Citation(s) in RCA: 153] [Impact Index Per Article: 9.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/12/2007] [Revised: 05/07/2008] [Accepted: 05/08/2008] [Indexed: 12/20/2022]
Abstract
Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder, which results from a germ line mutation in the APC (adenomatous polyposis coli) gene. FAP is characterized by the formation of hundreds to thousands of colorectal adenomatous polyps. Although the development of colorectal cancer stands out as the most prevalent complication, FAP is a multisystem disorder of growth. This means, it is comparable to other diseases such as the MEN syndromes, Von Hippel-Lindau disease and neurofibromatosis. However, the incidence of many of its clinical features is much lower. Therefore, a specialized multidisciplinary approach to optimize health care-common for other disorders-is not usually taken for FAP patients. Thus, clinicians that care for and counsel members of high-risk families should have familiarity with all the extra-intestinal manifestations of this syndrome. FAP-related complications, for which medical attention is essential, are not rare and their estimated lifetime risk presumably exceeds 30%. Affected individuals can develop thyroid and pancreatic cancer, hepatoblastomas, CNS tumors (especially medulloblastomas), and various benign tumors such as adrenal adenomas, osteomas, desmoid tumors and dental abnormalities. Due to improved longevity, as a result of better prevention of colorectal cancer, the risk of these clinical problems will further increase. We present a clinical overview of extra-intestinal manifestations, including management and treatment options for the FAP syndrome. Furthermore, we provide recommendations for surveillance of FAP complications based on available literature.
Collapse
Affiliation(s)
- Emma J Groen
- Department of Endocrinology, University Medical Center Groningen, University of Groningen, De Brug 4.069, P.O. Box 30.001, 9700 RB, Groningen, The Netherlands
| | | | | | | | | | | | | | | | | |
Collapse
|
|
49
|
Herraiz M, Barbesino G, Faquin W, Chan-Smutko G, Patel D, Shannon KM, Daniels GH, Chung DC. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 2007; 5:367-73. [PMID: 17258512 DOI: 10.1016/j.cgh.2006.10.019] [Citation(s) in RCA: 72] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
BACKGROUND & AIMS Thyroid carcinoma is an extraintestinal manifestation of familial adenomatous polyposis (FAP) syndrome, but the precise risk is unknown. The optimal approach for thyroid cancer screening has not been established. We sought to define the prevalence of thyroid cancer and the role of screening ultrasound in FAP patients. METHODS We performed a retrospective chart review of 51 patients with a proven diagnosis of FAP at a single tertiary institution. Clinical records, genetic test results, ultrasound examinations, and histopathology were reviewed. RESULTS Papillary thyroid cancer was diagnosed in 6 female patients (12%). The mean age of thyroid cancer diagnosis was 33 years, and mean tumor size was 12 mm. However, all patients had additional malignant foci that were small (1-9 mm), and none had suspicious features of malignancy on ultrasound. Of 28 patients who had at least one screening ultrasound, 22 (79%) had thyroid nodules, and 2 (7%) had papillary thyroid carcinoma. Of those with nodules, 68% had multinodular disease. A follow-up ultrasound in 12 patients after a mean of 15 months revealed no changes in either the number or size of nodules. CONCLUSIONS The 12% prevalence of thyroid cancer in this series of FAP patients is significantly higher than in previous reports. Among patients undergoing screening ultrasound, 7% had thyroid cancer. Nodular thyroid disease is very common in FAP. Because small nodules (<9 mm) might also be malignant, close follow-up with ultrasound and fine-needle aspiration might be warranted.
Collapse
Affiliation(s)
- Maite Herraiz
- Gastrointestinal Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
| | | | | | | | | | | | | | | |
Collapse
|
|
50
|
Uchino S, Noguchi S, Yamashita H, Yamashita H, Watanabe S, Ogawa T, Tsuno A, Murakami A, Miyauchi A. Mutational analysis of the APC gene in cribriform-morula variant of papillary thyroid carcinoma. World J Surg 2006; 30:775-9. [PMID: 16680592 DOI: 10.1007/s00268-005-0368-3] [Citation(s) in RCA: 29] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/24/2022]
Abstract
INTRODUCTION Familial adenomatous polyposis (FAP) is an inherited autosomal dominant syndrome caused by germline mutations in the adenomatous polyposis coli (APC) gene. Papillary thyroid cancer is one of the extracolonic manifestations of FAP. A characteristic histologic feature of this type of thyroid tumor is the cribriform-morula variant of papillary thyroid carcinoma (CMVPTC). METHODS To investigate roles of the APC and beta-catenin genes in the development of CMVPTC, we examined germline and somatic mutations of these genes in a female patient with CMVPTC and FAP. The patient had undergone total colectomy at the age of 19 years and total thyroidectomy at age 25 years. RESULTS Numerous tumors were disseminated in both lobes of the thyroid gland, and histopathologic examination revealed typical CMVPTC. DNA was extracted from peripheral blood leukocytes and 12 CMVPTC tumors, and exons 1-15 of the APC gene and exon 3 of the beta-catenin gene were examined. A germline mutation was detected in exon 13 of the APC gene, and this mutation generated a premature stop codon. Six somatic mutations (922delC, 1602delA, 1821delT, 1920delG, 2706del20, 2804insA) were found in the CMVPTC specimens. All mutations were truncating mutations in the N-terminus of the APC protein. Loss of heterozygosity was not observed in the remaining tumor tissues without somatic APC mutations. There were no mutations of the beta-catenin gene in peripheral blood leukocytes or 12 CMVPTC specimens. CONCLUSIONS These results suggest that APC mutations play an important role in the development of CMVPTC and occur predominantly in the 5' side of the APC gene between codons 308 and 935.
Collapse
Affiliation(s)
- Shinya Uchino
- Noguchi Thyroid Clinic and Hospital Foundation, Noguchi Naka-machi 6-33, Beppu, Oita, 874-0932, Japan.
| | | | | | | | | | | | | | | | | |
Collapse
|