Control of Lung Metastases and Colon Polyposis with Lenvatinib Therapy in a Patient with Cribriform-Morular Variant of Papillary Thyroid Carcinoma and an APC Gene Mutation: A Case Study

Thyroid ◽  
2019 ◽  
Vol 29 (10) ◽  
pp. 1511-1517 ◽  
Author(s):  
Yasuhiro Ito ◽  
Hideki Ishikawa ◽  
Minoru Kihara ◽  
Mitsuyoshi Hirokawa ◽  
Naomi Kiyota ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Gene Mutation ◽  
Lung Metastases ◽  
Apc Gene ◽  
Papillary Thyroid ◽  
Cribriform Morular Variant

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.

scholarly journals INCIDENTAL PULMONARY METASTASES REVEALING SUBCENTIMETER PAPILLARY THYROID CARCINOMA

2020 ◽  
Vol 6 (5) ◽  
pp. e273-e278
Author(s):  
Ruey Hu ◽  
George Xu ◽  
Thomas Stricker ◽  
Bingshan Li ◽  
Vivian L. Weiss ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Active Surveillance ◽  
Thyroid Nodules ◽  
Lung Metastases ◽  
Molecular Testing ◽  
American Thyroid Association ◽  
Cancer Genes ◽  
Papillary Thyroid

Objective: Here we present 2 cases of papillary thyroid microcarcinomas (PMCs) that had metastasized at presentation. The 2015 American Thyroid Association and the American College of Radiology Thyroid Imaging Reporting and Data System (TI-RADS) criteria do not recommend biopsy of the majority of subcentimeter thyroid nodules, as PMCs are mostly indolent with excellent prognosis. However, the paradigm of active surveillance presents a conundrum on how to identify the rare patient with distant metastatic disease while avoiding unnecessary intervention in the majority. Methods: After initial discovery of incidental lesions on chest computed tomography, core or wedge biopsies of the lung lesion were performed. Thyroid nodules on ultrasound were classified by TI-RADS. Tumor DNA was sequenced, annotated, filtered on 119 known cancer genes, and filtered for variants with an exome allele frequency of <0.001. Results: A 70-year-old woman and a 29-year-old woman presented with incidental pulmonary lesions on computed tomography scan. Lung biopsy revealed lung metastases from papillary thyroid carcinoma. The thyroid nodules in both patients were TI-RADS 3 and American Thyroid Association low-suspicion. Molecular testing showed a c.1721C>G mutation (p.Thr574Ser) in the TSHR gene in patient 1 and a codon 61 mutation in the NRAS gene in patient 2. Both patients were iodine-avid, with complete structural remission in one patient and ongoing treatment with evidence of structural response in the other. Conclusion: The 2 presentations demonstrate unexpected and concerning behavior of PMCs. Both thyroid tumors were subcentimeter in diameter, meaning they would have escaped detection using traditional risk-stratification algorithms in active surveillance. Further knowledge of tumor genetics and microenvironment may assist in predicting tumor behavior in PMCs.

Cribriform-morular variant of papillary thyroid carcinoma: report of three cases and review of the literature

Pathology ◽  
2009 ◽  
Vol 41 (5) ◽  
pp. 509-512 ◽  
Author(s):  
Yingchun Dong ◽  
Xiaojun Zhou ◽  
Honglin Yin ◽  
Jiandong Wang ◽  
Hangbo Zhou ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Papillary Thyroid ◽  
Review Of The Literature ◽  
Cribriform Morular Variant
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