Mammary analog secretory carcinoma of the thyroid gland: A rare cancer harboring TRK fusion
| Autor: | Ben Ma, Yi-ming Cao, Jia-ying Chen, Yu-Long Wang, Zhongwu Lu, Qing Guan, Qian-ming Bai, Qinghai Ji, Tong-Zhen Chen, Nai-Si Huang |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Cancer Research Thyroid Gland Vimentin Thyroid carcinoma Fusion gene 03 medical and health sciences 0302 clinical medicine Mammaglobin Biomarkers Tumor Humans Medicine Thyroid Neoplasms 030223 otorhinolaryngology Thyroid cancer Oncogene Proteins biology business.industry Thyroid medicine.disease ETV6 medicine.anatomical_structure Oncology 030220 oncology & carcinogenesis Cancer research biology.protein Female Mammary Analogue Secretory Carcinoma Oral Surgery business PAX8 |
| Zdroj: | Oral Oncology. 115:105092 |
| ISSN: | 1368-8375 |
| Popis: | Mammary analog secretory carcinoma (MASC), or secretory carcinoma of the thyroid is an extremely rare disease harboring ETV6–NTRK3 gene fusion with TRK activation. Here we report the twelfth case of MASC of the thyroid worldwide. A 36-year-old female was diagnosed with poor-differentiated thyroid carcinoma (PDTC). Pathology consultant and immunochemical workups showed the tumor cells were negative for TTF1, TG, PAX8, positive for S100, Vimentin, GATA-3, and focally positive for mammaglobin. Fluorescence in situ hybridization (FISH) assay using a dual-color break-apart probe showed ETV6 translocation t(12p13) (ETV6) was present and established the diagnosis of MASC. Next-generation sequencing (NGS) of a 47-gene panel identified exon 1–5 of ETV6 gene were fused with exons 15–19 of NTRK3 gene. The patient experienced three loco-regional recurrences within 12 months and eventually developed inoperable local disease as well as bilateral lung metastasis. She is currently receiving anti-TRK treatment with a follow-up time of 33 months. A literature review of MASC in the thyroid was also conducted. |
| Databáze: | OpenAIRE |
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