MPL Y252H an M d PL F126fs mutations in essential thrombocythemia: Case series and review of literature

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 , or that can upregulate the JAK-STAT pathwa...

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Published in:Hematology reports 2019-02, Vol.11 (1), p.7868
Main Authors: Elsayed, Ahmed G, Ranavaya, Aeesha, Jamil, Muhammad Omer
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Jamil, Muhammad Omer
description 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 , or that can upregulate the JAK-STAT pathway. mutation is present in 5% of cases with the most common mutations being and In this report we describe 2 cases of patients with clinical and laboratory picture of ET. One patient carried mutation which is previously unreported in the adult population but has been shown to be a gain-of-function mutation. The other patient carried mutation which is not known to be of clinical importance and has not been previously reported.
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title MPL Y252H an M d PL F126fs mutations in essential thrombocythemia: Case series and review of literature
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