Evaluation of BRAF V600E and TERT mutation analysis in differential thyroid cancers


Aktash N., Dural A. C., Aydin H., ŞAHBAZ N. A., Guzey D., Altınay S., ...Daha Fazla

Updates in Surgery, 2025 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1007/s13304-025-02448-y
  • Dergi Adı: Updates in Surgery
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, MEDLINE
  • Anahtar Kelimeler: BRAF V600E oncogene, Differentiated thyroid cancer, TERT promoter mutation
  • İstanbul Gelişim Üniversitesi Adresli: Evet

Özet

The objective of this study to evaluate the potential effects of Differentiated Thyroid Cancer (DTC), BRAF V600E oncogene, and TERT promoter mutation association, on the clinical course and aggressive spread of the tumor. A total of 137 patients with DTC, who had surgery, were evaluated retrospectively. The patients were grouped as DTC with the aggressive course (Group 1), DTC with the standard course (Group 2), and the benign cases (Group 3/Control). BRAF V600E oncogene and TERT promoter mutation analysis and its expressions were analyzed with the supplied immunohistochemically kits and a comparison was made between the three groups. While BRAF mutation was significantly higher in Group 1 (p = 0.001), TERT mutation and BRAF + TERT coexistence were similar in Groups 1 and 2 (p = 0.054 and p = 0.213, respectively). The age, gender, multifocality, tumor capsule invasion, which are local prognostic factors, metastasis status with LVI and PNI, recurrence, and mortality were not associated with BRAF, TERT, and TERT + BRAF mutation coexistence. Unusually, the extra thyroidal invasion was found to be significantly higher in BRAF-positive cases (p = 0.029), but was not associated with TERT and BRAF + TERT mutation coexistence. It was determined that that the positivity of BRAF, TERT, and both mutations was associated with large tumor size, and the extra thyroidal spread was higher in BRAF positivity, but there was no statistically significant difference in metastasis, recurrence, and survival. The presence of BRAF and TERT mutations should be evaluated with more comprehensive studies in terms of clinical benefit prior to their routine use in our country.