In recent years, many studies were dedicated to the search for genetic markers in thyroid malignancies, including papillary thyroid cancer. This study was designed to investigate the prevalence of BRAFV600E mutation in the PTC in the Kazakh population, to evaluate the relationship between BRAF V600E mutation status and the clinicopathological features of PTC. Besides, we aimed at assessing of the relationship between the high proliferation index and the clinicopathological features of PTC and also between the concomitant coexistence of BRAFV600E and the high proliferative index with clinicopathological features of PTC. We carried out a cross-sectional study on 123 patients with PTC of Kazakh ethnicity and analyzed their clinical, laboratory, and genetic findings. The study groups were pooled based on the presence of mutated or wild-type BRAFV600E and quantitative assessment of Ki-67 marker expression. In the course of our study, we found that the age of patients from the group of BRAF gene mutation was significantly higher than that of patients from the wild-type group (48.63 ± 14.07 years versus 40.23 ± 14.34 years) (t = − 3.257; p = 0.001). Correlation analysis between BRAF mutation, Ki-67 expression, their combination and various clinical and pathological parameters in PTC patients showed that older age was positively correlated with higher frequency of mutant BRAF gene (r = 0.284; p < 0.001), while more advanced stage of tumor was positively correlated with higher expression of Ki-67 (r = 0.307; p < 0.001). To understand the significance of detecting the BRAFV600E mutation and an increased level of Ki-67 expression in the choice of patient therapy tactics, larger studies are required with patient survival as one of the primary outcomes.

近年来，许多研究致力于寻找甲状腺恶性肿瘤的遗传标记，包括甲状腺乳头状癌。本研究旨在调查哈萨克人群 PTC 中 BRAFV600E 突变的患病率，以评估 BRAF V600E 突变状态与 PTC 临床病理特征之间的关系。此外，我们旨在评估高增殖指数与 PTC 临床病理特征之间的关系，以及 BRAFV600E 的伴随共存与具有 PTC 临床病理特征的高增殖指数之间的关系。我们对 123 名哈萨克族 PTC 患者进行了横断面研究，并分析了他们的临床、实验室和遗传发现。基于突变型或野生型 BRAFV600E 的存在和 Ki-67 标记表达的定量评估合并研究组。在我们的研究过程中，我们发现 BRAF 基因突变组患者的年龄显着高于野生型组患者（48.63±14.07 岁 vs 40.23±14.34 岁）（t  = - 3.257；p  = 0.001）。PTC 患者 BRAF 突变、Ki-67 表达及其组合与各种临床和病理参数的相关性分析表明，年龄越大，BRAF 基因突变频率越高（r  = 0.284；p  < 0.001），而越晚期肿瘤的大小与 Ki-67 的较高表达呈正相关（r  = 0.307；p  < 0.001）。为了了解检测 BRAFV600E 突变和 Ki-67 表达水平增加在患者治疗策略选择中的重要性，需要进行更大规模的研究，将患者生存作为主要结果之一。