Department of Pathology-Oncogenetic Unit, Institut Pasteur de Tunis, 1002 Tunis, Tunisia.
Faculty of Medicine of Tunis, University Tunis El Manar, Tunis, Tunisia.
Asian Pac J Cancer Prev. 2022 Dec 1;23(12):4029-4037. doi: 10.31557/APJCP.2022.23.12.4029.
Thyroid cancer (TC) is a common endocrine malignancy that frequently harbours the oncogenic V600E BRAF mutation. This mutation has received considerable attention in recent years for its potential utility in the risk stratification and management of TC. This study aims to investigate BRAF mutational status in thyroid cancer of Libyan patients and their association with clinicopathological factors.
44 thyroid tissue samples were analysed for mutations in exon 15 of the BRAF gene by performing polymerase chain reaction and Sanger sequencing. The results of BRAF mutation screening were correlated to clinical and pathological characteristics of the studied thyroid cancer patients. Statistical analyses were performed using SPSS.
The BRAF exon 15 mutations were detected in 19 (43.2%) of the thyroid cancer cases. The V600E was the most frequent one found in 15/44 (34.1%) cases. We also detected 6 other variants in 7 patients (15.9%), the S616F, the W619R and the T599S. Three mutations were associated with V600E, the L584I, the D587Y and the synonymous L597L. None of these mutations were reported previously in thyroid cancers. No statistical association was found between BRAF mutations and clinicopathological factors except with papillary thyroid cancer type (p= 0,032).
Novel BRAF mutations and V600E were frequently detected in thyroid cancer of Libyan patients; this suggests a potential role of these novel mutations in carcinogenesis and in anti-EGFR therapy resistance.
甲状腺癌（TC）是一种常见的内分泌恶性肿瘤，常存在致癌 V600E BRAF 突变。近年来，该突变因其在 TC 的风险分层和管理中的潜在应用而受到广泛关注。本研究旨在研究利比亚患者甲状腺癌中的 BRAF 突变状态及其与临床病理因素的关系。
通过聚合酶链反应和 Sanger 测序分析 44 例甲状腺组织样本中 BRAF 基因外显子 15 的突变。BRAF 突变筛查结果与研究的甲状腺癌患者的临床和病理特征相关联。使用 SPSS 进行统计分析。
在 19 例（43.2%）甲状腺癌病例中检测到 BRAF 外显子 15 突变。最常见的是 V600E，在 15/44（34.1%）例中发现。我们还在 7 例患者中发现了其他 6 种变体，即 S616F、W619R 和 T599S。有 3 种突变与 V600E 相关，即 L584I、D587Y 和同义 L597L。这些突变在甲状腺癌中以前均未报道过。除与甲状腺乳头状癌类型有关（p=0.032）外，BRAF 突变与临床病理因素之间未发现统计学关联。
在利比亚患者的甲状腺癌中经常检测到新型 BRAF 突变和 V600E；这表明这些新型突变可能在致癌作用和抗 EGFR 治疗耐药性中起作用。
