Acquisition of additional mutations drives accelerated progression of NPM1 positive CMML to AML

This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/We performed exome sequencing on serial samples from a patient with CMML who progressed to AML. The exome sequencing suggests that NPM1, TET2 and DNMT3a mutations were present in the dominant clone in the CMML sample and that NRAS is a new subclonal mutation in the AML sample. Diagnostic data shows the presence of a FLT3-ITD mutation in the AML sample, which is likely to have driven progression. Here we are performing re-sequencing of the putative driver and some passenger mutations which appear to be in the same clone to validate these mutations and to verify the relative quantification of these abnormalities .

本数据集为预发布版本的一部分。有关威尔康姆信托桑格研究所（Wellcome Trust Sanger Institute）共享的预发布数据之适当使用方法（包括任何发表禁令的详情），请参阅http://www.sanger.ac.uk/datasharing/。我们对一名患有CMML并进展至AML的患者的连续样本进行了外显子测序。外显子测序结果表明，在CMML样本的显性克隆中存在NPM1、TET2和DNMT3a突变，而在AML样本中，NRAS则是一种新的亚克隆突变。诊断数据显示AML样本中存在FLT3-ITD突变，该突变可能驱动了疾病的进展。在此，我们正在对疑似驱动突变以及一些看似位于同一克隆中的乘客突变进行重测序，以验证这些突变并核实这些异常的相对量化。