Familial Adenomatous Polyposis Associated With Sporadic MEN 1 and Thyroid Carcinoma Related to APC Mutation

2003 ◽  
Vol 27 (3) ◽  
pp. 412-413 ◽  
Author(s):  
H. Rubén Harach
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Thyroid Carcinoma ◽  
Adenomatous Polyposis ◽  
Men 1 ◽  
Apc Mutation

scholarly journals Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APC

2019 ◽  
Vol 12 (11) ◽  
pp. e231232
Author(s):  
Vivek Sant ◽  
Elsa Reich ◽  
Lauren Khanna ◽  
Wenqing Cao ◽  
Susan Kornacki ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Novel Mutation ◽  
Binding Protein ◽  
Tumour Suppressor ◽  
Colon Polyps ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Protein Inactivation ◽  
Exon 9 ◽  
Apc Mutation

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome associated with mutation in the adenomatous polyposis coli (APC) gene, a tumour suppressor located on chromosome 5q21. Attenuated familial adenomatous polyposis (AFAP) is a variant associated with fewer and later onset of colon polyps. AFAP-associated APC mutations have largely been found before codon 157, in exon 9 or after codon 1595. We present the case of a 44-year-old man incidentally found to have numerous gastric polyps during bariatric surgery, with innumerable polyps in the remaining part of the stomach and the entire colon, with rectal sparing, consistent with AFAP phenotype. Genetic testing demonstrated the c.7682dup (p.Ser2562Lysfs*21) variant in exon 15 of APC. This represents a previously undescribed APC mutation. This mutation likely yields end-binding protein 1 and human disc large binding protein inactivation, causing cell cycle microtubule dysregulation and tumour suppressor inactivation. Through loss of these regulatory mechanisms, this mutation is associated with AFAP phenotype. The patient was treated surgically and is doing well.

scholarly journals APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients

2000 ◽  
Vol 8 (1) ◽  
pp. 42-48 ◽  
Author(s):  
Xia Cao ◽  
Kong Weng Eu ◽  
Francis Seow-Choen ◽  
Yi Zao ◽  
Peh Yean Cheah
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Adenomatous Polyposis ◽  
Phenotypic Spectrum ◽  
Apc Mutation

scholarly journals Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation

2015 ◽  
Vol 2 (1) ◽  
Author(s):  
Tsuneo Ikenoue ◽  
Kiyoshi Yamaguchi ◽  
Mitsuhiro Komura ◽  
Seiya Imoto ◽  
Rui Yamaguchi ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Adenomatous Polyposis ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Apc Mutation

scholarly journals Familial Adenomatous Polyposis—Rendering a Diagnosis Based on Recognition of an Unusual Primary Thyroid Neoplasm

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
David F. Schaeffer ◽  
Eric M. Yoshida ◽  
David A. Owen ◽  
Kenneth W. Berean
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Familial Adenomatous Polyposis ◽  
Thyroid Carcinoma ◽  
Clinical Features ◽  
Germline Mutations ◽  
Initial Diagnosis ◽  
Thyroid Neoplasm ◽  
Adenomatous Polyposis ◽  
Papillary Thyroid ◽  
Cribriform Morular Variant

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.

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