Gąsior-Perczak Danuta, Kowalik Artur, Walczyk Agnieszka, Siołek Monika, Gruszczyński Krzysztof, Pałyga Iwona, Mikina Estera, Trybek Tomasz, Kopczyński Janusz, Mężyk Ryszard, Góźdź Stanisław, Kowalska Aldona
Endocrinology, Holycross Cancer Centre, S. Artwińskiego St. 3, 25-734 Kielce, Poland.
Molecular Diagnostics, Holycross Cancer Centre, S. Artwińskiego Str. 3, 25-734 Kielce, Poland.
Cancers (Basel). 2019 Nov 7;11(11):1744. doi: 10.3390/cancers11111744.
is the most common somatic mutation in papillary thyroid carcinoma (PTC) and the majority of evidence indicates that it is associated with an aggressive clinical course. Germline mutations of the gene impair the DNA damage repair process and increase the risk of PTC. Coexistence of both mutations is expected to be associated with poorer clinical course. We evaluated the prevalence of concomitant and mutations and their associations with clinicopathological features, treatment response, and disease course in PTC patients. The study included 427 unselected PTC patients (377 women and 50 men) from one center. Relationships among clinicopathological features, mutation status, treatment response, and disease outcomes were assessed. Mean follow-up was 10 years. mutations were detected in 15.2% and mutations in 64.2% patients. Neither mutation was present in 31.4% cases and both and mutations coexisted in 10.8% patients. No significant differences in clinicopathological features, initial risk, treatment response, or disease outcome were detected among these patient groups. mutations were significantly associated with older age, while was significantly associated with older age and extrathyroidal extension. The coexistence of both mutations was not associated with more aggressive clinicopathological features of PTC, poorer treatment response, or disease outcome.
是甲状腺乳头状癌（PTC）中最常见的体细胞突变，大多数证据表明它与侵袭性临床病程相关。该基因的种系突变会损害DNA损伤修复过程，并增加患PTC的风险。预计这两种突变同时存在会与更差的临床病程相关。我们评估了PTC患者中 和 突变同时存在的患病率及其与临床病理特征、治疗反应和疾病病程的关联。该研究纳入了来自一个中心的427例未经筛选的PTC患者（377例女性和50例男性）。评估了临床病理特征、突变状态、治疗反应和疾病结局之间的关系。平均随访时间为10年。15.2%的患者检测到 突变，64.2%的患者检测到 突变。31.4%的病例未检测到任何一种突变，10.8%的患者同时存在 和 突变。在这些患者组中，临床病理特征、初始风险、治疗反应或疾病结局均未检测到显著差异。 突变与年龄较大显著相关，而 与年龄较大和甲状腺外侵犯显著相关。两种突变同时存在与PTC更具侵袭性的临床病理特征、较差的治疗反应或疾病结局无关。
