Progress of atypical MPL gene mutations in myeloproliferative neoplasms

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.\r\n\r\n\r\nKey words: \r\nMyeloproliferative neoplasms; MPL gene mutation; Atypical mutation