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.
Madina Mussulmanova1, Akbota Targynova2, Zhanna Mussazhanova2,3, Saya Kaidarova1, Gulzira Shalgimbayeva1, Aray Mukanova1,
Zhanar Yeleubayeva4, Laura Pak1,5, Saltanat Bolsynbekova6,
Dulat Serikbayuly6, Aidana Rakhmankulova1,5,
Zhanna Zhalimbetova 2, Raushan Umirova7, Tamila Akhayeva2, Hirokazu Kurohama3, Masahiro Nakashima3
1 Semey Medical University, Semey c., the Republic of Kazakhstan;
2 Al-Farabi Kazakh National University, Almaty c., the Republic of Kazakhstan;
3 Nagasaki University, Atomic Bomb Disease Institute, Nagasaki, Japan;
4 Kazakh Institute of Oncology and Radiology, Almaty c., the Republic of Kazakhstan;
5 Center of Nuclear Medicine and Oncology, Semey c., the Republic of Kazakhstan;
6 National Research Oncology Center, Nur-Sultan c., the Republic of Kazakhstan;
7 Asfendiyarov Kazakh National Medical University, Almaty c., the Republic of Kazakhstan.
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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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