MPL Y252H and MPL F126fs mutations in essential thrombocythemia: Case series and review of literature

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Ahmed G. Elsayed *
Aeesha Ranavaya
Muhammad Omer Jamil
(*) Corresponding Author:
Ahmed G. Elsayed | gamal_masry@yahoo.com

Abstract

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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