Cribriform Morular Thyroid Carcinoma - Ultimobranchial Pouch-Related? Deep Molecular Insights of a Unique Case.
Clonal evolution
Cribriform morular
FAP
NGS
Squamous cell component
Thyroid carcinoma
Journal
Endocrine pathology
ISSN: 1559-0097
Titre abrégé: Endocr Pathol
Pays: United States
ID NLM: 9009288
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
accepted:
16
05
2023
medline:
21
9
2023
pubmed:
30
5
2023
entrez:
30
5
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37249797
doi: 10.1007/s12022-023-09775-z
pii: 10.1007/s12022-023-09775-z
pmc: PMC10511600
doi:
Substances chimiques
Iodine Radioisotopes
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
342-348Informations de copyright
© 2023. The Author(s).
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