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Cribriform Morular Thyroid Carcinoma – Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case
A 44-year-old female patient with a familial adenomatous polyposis (FAP) was diagnosed with a cribriform morular thyroid carcinoma (CMTC). We observed within the very necrotic tumor a small but distinct poorly differentiated carcinomatous component. As expected, next generation sequencing of both co...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer US
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511600/ https://www.ncbi.nlm.nih.gov/pubmed/37249797 http://dx.doi.org/10.1007/s12022-023-09775-z |
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author | Dettmer, Matthias S. Hürlimann, Sandra Scheuble, Lukas Vassella, Erik Perren, Aurel Wicke, Corinna |
author_facet | Dettmer, Matthias S. Hürlimann, Sandra Scheuble, Lukas Vassella, Erik Perren, Aurel Wicke, Corinna |
author_sort | Dettmer, Matthias S. |
collection | PubMed |
description | A 44-year-old female patient with a familial adenomatous polyposis (FAP) was diagnosed with a cribriform morular thyroid carcinoma (CMTC). We observed within the very necrotic tumor a small but distinct poorly differentiated carcinomatous component. As expected, next generation sequencing of both components revealed a homozygous APC mutation and in addition, a TERT promoter mutation. A TP53 mutation was found exclusively in the CMTC part, while the poorly differentiated component showed a clonal evolution, harboring an activating PIK3CA mutation and copy number gains of BRCA2, FGF23, FGFR1, and PIK3CB—alterations which are typically seen in squamous cell carcinoma. The mutational burden in both components was low, and there was no evidence for microsatellite instability. No mutations involving the mitogen-activated protein kinase (MAPK) pathway, typically seen in papillary thyroid carcinomas, were detected. Immunohistochemically, all tumor parts were negative for thyroglobulin, providing further evidence that this entity does not belong to the follicular epithelial cell-derived thyroid carcinoma group. CD5 was negative in the poorly differentiated component, making a relation to intrathyroidal thymic carcinoma rather unlikely. However, since this marker was seen in the morules, a loss in the poorly differentiated component and a relation to the ultimobranchial body cannot be excluded either. After total thyroidectomy and radioiodine ablation, the patient was disease-free with no residual tumor burden on 2-year follow-up. |
format | Online Article Text |
id | pubmed-10511600 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-105116002023-09-22 Cribriform Morular Thyroid Carcinoma – Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case Dettmer, Matthias S. Hürlimann, Sandra Scheuble, Lukas Vassella, Erik Perren, Aurel Wicke, Corinna Endocr Pathol Case Report A 44-year-old female patient with a familial adenomatous polyposis (FAP) was diagnosed with a cribriform morular thyroid carcinoma (CMTC). We observed within the very necrotic tumor a small but distinct poorly differentiated carcinomatous component. As expected, next generation sequencing of both components revealed a homozygous APC mutation and in addition, a TERT promoter mutation. A TP53 mutation was found exclusively in the CMTC part, while the poorly differentiated component showed a clonal evolution, harboring an activating PIK3CA mutation and copy number gains of BRCA2, FGF23, FGFR1, and PIK3CB—alterations which are typically seen in squamous cell carcinoma. The mutational burden in both components was low, and there was no evidence for microsatellite instability. No mutations involving the mitogen-activated protein kinase (MAPK) pathway, typically seen in papillary thyroid carcinomas, were detected. Immunohistochemically, all tumor parts were negative for thyroglobulin, providing further evidence that this entity does not belong to the follicular epithelial cell-derived thyroid carcinoma group. CD5 was negative in the poorly differentiated component, making a relation to intrathyroidal thymic carcinoma rather unlikely. However, since this marker was seen in the morules, a loss in the poorly differentiated component and a relation to the ultimobranchial body cannot be excluded either. After total thyroidectomy and radioiodine ablation, the patient was disease-free with no residual tumor burden on 2-year follow-up. Springer US 2023-05-30 2023 /pmc/articles/PMC10511600/ /pubmed/37249797 http://dx.doi.org/10.1007/s12022-023-09775-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Case Report Dettmer, Matthias S. Hürlimann, Sandra Scheuble, Lukas Vassella, Erik Perren, Aurel Wicke, Corinna Cribriform Morular Thyroid Carcinoma – Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case |
title | Cribriform Morular Thyroid Carcinoma – Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case |
title_full | Cribriform Morular Thyroid Carcinoma – Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case |
title_fullStr | Cribriform Morular Thyroid Carcinoma – Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case |
title_full_unstemmed | Cribriform Morular Thyroid Carcinoma – Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case |
title_short | Cribriform Morular Thyroid Carcinoma – Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case |
title_sort | cribriform morular thyroid carcinoma – ultimobranchial pouch-related? deep molecular insights of a unique case |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511600/ https://www.ncbi.nlm.nih.gov/pubmed/37249797 http://dx.doi.org/10.1007/s12022-023-09775-z |
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