BRAF AND TERT PROMOTER DOUBLE MUTATIONS IN PAPILLARY THYROID CARCINOMA WITH HIGH-GRADE FEATURES: CASE REPORT OF YOUNG PATIENT
Background: we report the case of a 39-year-old woman with BRAF and TERT promoter double-mutation, with high-grade features in papillary thyroid carcinoma (PTC).
Case presentation: PTC was diagnosed via cytological analysis and total thyroidectomy and lymph node dissection were performed. Pathological diagnosis revealed PTC pT2N0M0, Stage I. An initial radioiodine ablative dose was administered. Thereafter, on computed tomography the metastases were not observed. Thirteen months later, thyroglobulin levels elevated to 75.8 ng/mL and multiple metastasis in both lungs and bone was observed on PET-CT scan. Within the next fourteen months the patient died developing multiple metastasis.
Molecular analysis revealed a double-mutation in BRAFV600E and TERTC228T mutations. The Ki-67 labeling index was 28%. BRAF mutations associated triggered an additional TERT promoter mutation with upregulated Ki-67 in primary PTC, which can be a network of genetic alterations driving tumor progression and metastasis.
Conclusions: The histologically high-grade feature components with double-mutation and upregulated Ki-67 should be considered carefully in young patients (<40 y.o.), and patients could be observed for poor prognosis.
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Mussulmanova M., Targynova A., Mussazhanova Zh., Kaidarova S., Shalgimbayeva G., Mukanova A., Yeleubayeva Zh., Pak L., Bolsynbekova S., Serikbayuly D., Rakhmankulova A., Zhalimbetova Zh., Umirova R., Akhayeva T., Kurohama H., Nakashima M. BRAF and TERT promoter double mutations in papillary thyroid carcinoma with high-grade features: case report of young patient // Nauka i Zdravookhranenie [Science & Healthcare]. 2023, (Vol.25) 3, pp. 269-274. doi 10.34689/SH.2023.25.3.034Related publications:
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