Haematopathology Laboratory, ACTREC, Tata Memorial Centre, Navi Mumbai, India.
Homi Bhabha National Institute (HBNI), Mumbai, India.
Leuk Lymphoma. 2020 Dec;61(13):3154-3160. doi: 10.1080/10428194.2020.1798951. Epub 2020 Aug 5.
Panel based next generation sequencing was performed on a discovery cohort of AML with . Supervised machine learning identified mutation and absence of mutations in and genes as well as a low mutation to be associated with favorable outcome. Based on this data patients were classified into favorable and poor genetic risk classes. Patients classified as poor genetic risk had a significantly lower overall survival (OS) and relapse free survival (RFS). We could validate these findings independently on a validation cohort ( = 61). Patients in the poor genetic risk group were more likely to harbor measurable residual disease. Poor genetic risk emerged as an independent risk factor predictive of inferior outcome. Using an unbiased computational approach based we provide evidence for gene panel-based testing in AML with and a framework for integration of genomic markers toward clinical decision making in this heterogeneous disease entity.
基于 panel 的下一代测序技术在 AML 的发现队列中进行。监督机器学习确定了 和 基因突变和缺失,以及低突变与有利的结果相关。基于这些数据,患者被分为有利和不良遗传风险类别。被分类为不良遗传风险的患者总生存率(OS)和无复发生存率(RFS)显著降低。我们可以在验证队列中独立验证这些发现(n=61)。不良遗传风险组的患者更有可能存在可测量的残留疾病。不良遗传风险是预测预后不良的独立危险因素。我们使用基于无偏计算方法的证据,为 AML 中的基于基因panel 的检测提供了证据,并为整合基因组标志物以指导这种异质性疾病实体的临床决策提供了框架。