Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan, R.O.C.
School of Medicine, Chung Shan Medical University, Taichung, Taiwan, R.O.C.
Anticancer Res. 2023 Nov;43(11):5073-5081. doi: 10.21873/anticanres.16707.
BACKGROUND/AIM: Turner syndrome confers increased cancer susceptibility; however, large-scale epidemiological evidence is lacking. This study aimed to analyze the incidence and prevalence of various malignancies in patients with Turner syndrome over 20 years of age to inform screening strategies.
We performed a retrospective cohort analysis of 11,502 patients with Turner syndrome from 2000 to 2020 utilizing the TriNetX research network database. The outcomes encompassed the incidence and prevalence of 20 cancers. Stratified analyses were used to evaluate variations in age, sex, and race.
Key findings demonstrated markedly elevated risks of breast (1.7%), colon (1.0%), renal (0.4%), gonadoblastoma (0.4%), and other cancers. Significant demographic variations were observed in the incidence of cancers, such as gonadoblastoma, renal, and colon cancer.
This large real-world study offers novel insights into the spectrum of cancer risk across adulthood in Turner syndrome. Our findings elucidate Turner syndrome's complex cancer phenotype to inform clinical decision-making, prognostication, and tailored screening strategies to ultimately advance patient care.
背景/目的：特纳综合征会增加癌症易感性，但缺乏大规模的流行病学证据。本研究旨在分析 20 岁以上特纳综合征患者各种恶性肿瘤的发病率和患病率，为筛查策略提供信息。
我们利用 TriNetX 研究网络数据库，对 2000 年至 2020 年期间的 11502 例特纳综合征患者进行了回顾性队列分析。结果包括 20 种癌症的发病率和患病率。分层分析用于评估年龄、性别和种族的变化。
主要发现表明，乳腺癌（1.7%）、结肠癌（1.0%）、肾癌（0.4%）、性腺母细胞瘤（0.4%）和其他癌症的风险显著增加。性腺母细胞瘤、肾癌和结肠癌等癌症的发病率存在显著的人口统计学差异。
这项大型真实世界研究为特纳综合征成年期的癌症风险谱提供了新的见解。我们的发现阐明了特纳综合征复杂的癌症表型，为临床决策、预后和定制筛查策略提供信息，最终改善患者的护理。
