Hińcza Kinga, Kowalik Artur, Pałyga Iwona, Walczyk Agnieszka, Gąsior-Perczak Danuta, Mikina Estera, Trybek Tomasz, Szymonek Monika, Gadawska-Juszczyk Klaudia, Zajkowska Klaudia, Suligowska Agnieszka, Kuchareczko Artur, Krawczyk Karol, Kopczyński Janusz, Chrapek Magdalena, Góźdź Stanisław, Kowalska Aldona
Molecular Diagnostics, Holycross Cancer Centre, S. Artwińskiego Str. 3, 25-734 Kielce, Poland.
Collegium Medicum, Jan Kochanowski University, IX Wieków Kielc Av. 19, 25-319 Kielce, Poland.
Cancers (Basel). 2020 Feb 12;12(2):423. doi: 10.3390/cancers12020423.
Thyroid cancer (TC) is the most common cancer of the endocrine system. Most new diagnoses are of low-grade papillary thyroid cancer (PTC), suggesting that PTC may be over-diagnosed. However, the incidence of advanced-stage PTC has increased in recent years. It is therefore very important to identify prognostic factors for advanced PTC. Somatic mutation of the gene at V600E, or the coexistence of the V600E mutation and mutations in the promoter are associated with more aggressive disease. It would also be valuable to identify genetic risk factors affecting PTC prognosis. We therefore evaluated the impact of the rs966423 polymorphism in the gene, including its relationship with unfavorable histopathological and clinical features and mortality, in differentiated thyroid cancer (DTC). The study included 1466 patients diagnosed with DTC from one center. There was no significant association between the genotype at rs966423 (CC, CT, or TT) and any histopathological or clinic factor examined, including initial response to therapy, response at follow-up, or overall mortality, in DTC patients.
甲状腺癌（TC）是内分泌系统最常见的癌症。大多数新诊断出的病例为低级别乳头状甲状腺癌（PTC），这表明PTC可能存在过度诊断的情况。然而，近年来晚期PTC的发病率有所上升。因此，识别晚期PTC的预后因素非常重要。 基因在V600E处的体细胞突变，或 V600E突变与 启动子突变共存，与更具侵袭性的疾病相关。识别影响PTC预后的遗传风险因素也将具有重要价值。因此，我们评估了 基因中rs966423多态性的影响，包括其与分化型甲状腺癌（DTC）不良组织病理学和临床特征以及死亡率的关系。该研究纳入了来自一个中心的1466例诊断为DTC的患者。在DTC患者中，rs966423处的 基因型（CC、CT或TT）与所检查的任何组织病理学或临床因素之间均无显著关联，这些因素包括对治疗的初始反应、随访时的反应或总体死亡率。
