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癌症治疗相关心脏功能障碍的患者在安赛克林化疗后心脏结构基因的变异:一个病例对照研究
Hanne M Boen1,2, Maaike Alaerts3, Inge Goovaerts4,3
1Research Group Cardiovascular Diseases, GENCOR, University of Antwerp, Antwerp, Belgium. hanne.boen@uantwerpen.be.
Cardio-oncology (London, England)
|April 30, 2024
概括
化疗后心脏功能障碍的癌症患者表现出更高的遗传变异负担,类似于扩张性心肌病患者. 这一发现可能会为受影响的个人和家庭提供精准医学和遗传咨询.
科学领域:
- 心脏病学 心脏病学
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 与癌症治疗相关的心脏功能障碍 (CTRCD) 可能具有遗传倾向.
- 在CTRCD患者中,基因检测的诊断收益率尚不清楚.
- 没有确定CTRCD遗传测试的最佳基因.
研究的目的:
- 为了确定在癌症患者中基因检测的诊断产量,而在癌症患者中产生环素诱导的CTRCD.
- 为了比较CTRCD患者与扩张性心肌病 (DCM) 和对照队伍的遗传变异负担.
- 为了识别与CTRCD相关的关键基因.
主要方法:
- 对46名癌症患者进行了回顾性研究,这些癌症患者患有由 antracycline 诱导的 CTRCD.
- 对59个心肌病基因进行遗传测试,包括意义不明的变体和致病/可能致病变体.
- 与匹配的DCM (n=46) 和对照 (n=111) 队列进行比较.
主要成果:
- 在63%的CTRCD患者中发现了基因变异,类似于DCM队列 (73.9%),但高于对照 (39.6%).
- 在CTRCD队列中,TTN基因变异最为普遍 (43%),所有致病变异都是截断的.
- 在CTRCD严重程度或恢复方面,在变异性和非变异性个体之间没有发现显著差异.
结论:
- 患有 antracycline 诱导的 CTRCD 的癌症患者表现出心肌病基因变异的增加负担,与 DCM 患者相比.
- 将遗传数据整合到CTRCD风险预测模型中可以指导癌症治疗决策.
- 遗传结果对以患者为中心的精准医学和家庭遗传咨询具有重大临床影响.
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