骨髓增殖性肿瘤不典型MPL基因突变研究进展

Progress of atypical MPL gene mutations in myeloproliferative neoplasms

MPL基因突变可见于1%~5%的原发性血小板增多症(ET)和原发性骨髓纤维化(PMF)患者中,其热点突变常发生于第10号外显子,以W515、S505位点突变为主。近年来,在三阴性骨髓增殖性肿瘤(MPN)患者中发现多种不典型MPL突变,包括获得性突变和胚系突变,但进一步的研究证实,已发现这些不典型MPL突变在MPN致病能力方面存在差异,提示临床上检测到的不典型MPL突变并非均为MPN真正的驱动突变。文章就不典型MPL基因突变在MPN中的研究进展进行综述。

MPL gene mutations can be found in 1%-5% of the patients with primary thrombocytosis and primary myelofibrosis, and the hot spot mutations often occur in exon10, mostly in the locus of W515 and S505. Recently, varieties of atypical MPL gene mutations have been detected in myeloproliferative neoplasms (MPN) patients with triple negative breast cancer, including acquired mutation and germline mutation;however, further researches have confirmed that the exciting atypical MPL gene mutations have several differences in the pathopoiesis of MPN, indicating that not all of these atypical MPL gene mutations detected clinically are the true driving mutations of MPN. This paper will review the progress of atypical MPL gene mutations in MPN.