随着第二代测序技术在临床的应用,骨髓增殖性肿瘤(MPN)患者的基因突变谱系得以被揭示,JAK2、MPL和CALR基因突变已被列入新近修订的诊断标准,基因突变的预后意义也日渐明确,因此,应将基因突变检测纳入MPN患者的诊疗常规.
The novel second or next-generation sequencing (NGS) technique enables comprehensive mutational profiling analysis in patients with myeloproliferative neoplasms (MPN).JAK2,MPL and CALR gene mutations are successfully introduced into diagnostic practice,mutations in genes may impact outcomes such as survival and risk of leukemic transformation,therefore,molecular mutation analysis is ready for use in all patients with suspected MPN.