期刊
HEMATOLOGY REPORTS
卷 11, 期 1, 页码 12-15出版社
PAGEPRESS PUBL
DOI: 10.4081/hr.2019.7868
关键词
MPL mutations; Essential thrombocythemia; Myeloproliferative disease; MPL Y252H and MPL F126fs
类别
Essential thrombocythemia (ET) is a clonal bone marrow disease, characterized by increased production of platelets along with other clinical and bone marrow findings. Most patients with ET will have a somatic mutation in one of the known gene locations of JAK2, CALR, or MPL that can upregulate the JAK-STAT pathway. MPL mutation is present in 5% of cases with the most common mutations being W515L and W515K. In this report we describe 2 cases of patients with clinical and laboratory picture of ET. One patient carried MPLY252H mutation which is previously unreported in the adult population but has been shown to be a gain-of-function mutation. The other patient carried MPL F126fs mutation which is not known to be of clinical importance and has not been previously reported.
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