MPL Y252H anMd 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 JAK2, CALR , or MPL that can upregulate the...

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Bibliographic Details
Published in:Hematology reports 2019-03, Vol.11 (1), p.7868-7868
Main Authors: Elsayed, Ahmed G, Ranavaya, Aeesha, Jamil, Muhammad Omer
Format: Article
Language:English
Subjects:
Case Report
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Summary: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.
ISSN:2038-8322
2038-8330
DOI:10.4081/hr.2019.7868