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与癌症治疗诱导的心肌病相关的遗传变异

Pablo Garcia-Pavia^1,2,3, Yuri Kim^4,5, Maria Alejandra Restrepo-Cordoba^1,2

¹Hospital Universitario Puerta de Hierro, Madrid, Spain (P.G.-P., M.A.R.-C., F.D., L.A.-P.).

|April 17, 2019

概括

罕见的基因变异,特别是Titin基因,显著增加了癌症治疗诱导的心肌病 (CCM) 的风险. 识别这些变体有助于预测和管理癌症患者的CCM风险.

科学领域:

心脏病学
遗传学
癌症学

背景情况:

癌症治疗诱导心肌病 (CCM) 的风险不完全由累积药物暴露和先前存在的疾病解释.
显著的个体间对CCM的敏感性表明存在潜在的遗传因素.
假设:心肌病基因的罕见变异有助于CCM的发展.

研究的目的:

研究心肌病基因罕见变异在CCM发展中的作用.
为了比较CCM患者和对照群体中这些变异的患病率.
评估特定基因变异对CCM结果的临床影响.

主要方法:

在3个群体 (患有多种癌症的成年人,患有乳腺癌的成年人,患有急性髓性白血病的儿童) 中测序了213名CCM患者的心肌病基因.
与癌症基因组图谱 (TCGA),健康志愿者和参考人群进行比较.
评估临床特征,结果,并对小鼠的流行基因型进行建模.

主要成果:

与对照组相比,CCM患者在9个优先心肌病基因中表现出更高的罕见蛋白质改变变异.
与TCGA (1.1%),健康志愿者 (0.7%) 和基准人群相比,在CCM患者中,TTNtvs变异显著更常见.
患有CCM和TTNtvs的成年人出现心力衰竭,心房动和心肌恢复障碍的增加.

结论:

在儿童和成人癌症患者中,未被识别的罕见变异,特别是TTNtvs,会增加CCM的风险.
结合化疗剂量和传统风险因素的基因分析,增强了CCM风险分层.
TTNtv小鼠模型和心肌细胞证实了持续的收缩功能障碍.

关键词:

心肌疾病药物治疗遗传学医疗瘤学其他类型

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