KHẢO SÁT ĐẶC ĐIỂM GIẢI PHẪU BỆNH CỦA NGƯỜI BỆNH UNG THƯ TUYẾN GIÁP DẠNG TỦY CÓ ĐỘT BIẾN EXON 10 GEN RET

Abstract

Aim: To identify RET gene variants on exon 10 and analyze the clinical, histopathological characteristics of cases harboring these variants. Materials and methods: This study was conducted on formalin-fixed, paraffin-embedded tumor tissue samples diagnosed with medullary thyroid carcinoma at Ho Chi Minh Oncology Hospital, PCR and Sanger sequencing techniques were employed to detect mutations in exon 10. Subsequently, Hematoxylin & Eosin (H&E) staining was performed, and histopathological features were recorded from the stained slides. Results: This study identified 6 cases with genetic variants in exon 10 out of a total of 16 analyzed cases, all of which were pathogenic mutations. Among the detected pathogenic mutations, there were 5 point mutations and 1 deletion mutation (3 nucleotides). Cases with mutations involved patients over the age of 50, with tumor tissues consistently exhibiting solid and nested cellular structures, along with stroma showing evidence of amyloid deposition. In addition, high-grade histological features such as high mitotic activity, vascular invasion, or tumor necrosis were not present in the tumor samples of the mutation-positive cases. Conclusion: Exon 10 is a mutation hotspot detected in tumor tissue samples. Therefore, when analyzing the RET gene in medullary thyroid cancer among Vietnamese patients, careful evaluation of this exon is recommended. When conducting clinical and pathological examinations, attention should be paid to the characteristic features of mutations in exon 10 of the RET gene as described in the study.