Identification of Recurrent TERT Promoter Mutations in Intrathyroid Thymic Carcinomas View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2020-06-27

AUTHORS

Ippei Tahara, Naoki Oishi, Kunio Mochizuki, Toshio Oyama, Kazuyuki Miyata, Akira Miyauchi, Mitsuyoshi Hirokawa, Ryohei Katoh, Tetsuo Kondo

ABSTRACT

Intrathyroid thymic carcinoma (ITTC) is a rare malignant neoplasm considered to be a eutopic thymic carcinoma (TC) arising ectopically in the thyroid. Histopathologically, ITTC resembles squamous cell carcinoma of the thymus with positive TC markers such as CD5 and c-KIT. Despite these similar histological findings, ITTC is clinically less aggressive than TC. In this study, we compared clinical, histological, and genetic characteristics of ITTCs and TCs. We collected 9 ITTCs and 8 TCs with their clinicopathological profiles. Immunohistochemistry for CD5, p63, CD117/c-KIT, Ki-67, p53, TTF-1, thyroglobulin, PAX8, EGFR, and PD-L1/CD274 plus in situ hybridization for EBER was performed. We further investigated mutation status of KIT, EGFR, BRAF, and TERT promoter using Sanger sequencing. In our study, ITTCs affected significantly younger patients than TCs. After a mean follow-up of 86 months, all patients with ITTC were alive, while two patients with TC had died. Immunohistochemistry showed ITTCs and TCs had a similar immunophenotype except for EGFR and p53. Genetic analysis did not identify KIT or BRAF mutations in any ITTCs or TCs. EGFR mutations were positive in 11% (1/9) of ITTCs and 25% (2/8) of TCs. Notably, TERT promoter C228T mutation was identified in 22% (2/9) of ITTCs but none of the TCs. There were no significant differences in age, tumor size, or sex between TERT-mutated and TERT-wild-type ITTCs. Collectively, ITTC and TC have similar histopathologic and immunophenotypic features but different clinical outcomes. Recurrent TERT promoter mutation may be a key event related to cancer progression in ITTCs and warrants further investigation. More... »

PAGES

274-282

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12022-020-09635-0

DOI

http://dx.doi.org/10.1007/s12022-020-09635-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1128816156

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/32594366


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99 sequencing
100 sex
101 significant differences
102 similar histological findings
103 similar immunophenotype
104 situ hybridization
105 size
106 squamous cell carcinoma
107 status
108 study
109 tert
110 thymic carcinoma
111 thymus
112 thyroglobulin
113 thyroid
114 tumor size
115 warrants further investigation
116 younger patients
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