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.

Clinical Features of Papillary Thyroid Carcinoma Associated with Familial Adenomatous Polyposis

2019 ◽  
Vol 112 (1) ◽  
pp. 55-61
Author(s):  
Hiroyuki Yamada ◽  
Ryuji Minami ◽  
Yuki Matsui ◽  
Masafumi Ueno ◽  
Ikue Konoeda ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Familial Adenomatous Polyposis ◽  
Thyroid Carcinoma ◽  
Clinical Features ◽  
Adenomatous Polyposis ◽  
Papillary Thyroid

Cribriform-Morular Variant of Papillary Thyroid Carcinoma With Poorly Differentiated Features: A Case Report With Immunohistochemical and Molecular Genetic Analysis

2018 ◽  
Vol 27 (3) ◽  
pp. 294-304 ◽  
Author(s):  
Jessica Corean ◽  
Larissa V. Furtado ◽  
Sabah Kadri ◽  
Jeremy P. Segal ◽  
Lyska L. Emerson
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Familial Adenomatous Polyposis ◽  
Thyroid Carcinoma ◽  
Differentiated Thyroid Carcinoma ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Papillary Thyroid ◽  
Poorly Differentiated Thyroid Carcinoma ◽  
Poorly Differentiated ◽  
Cribriform Morular Variant

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.

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