and Mutations in Essential Thrombocythemia: Case Series and Review of Literature

Overview

Journal Hematol Rep

Publisher MDPI

Date 2019 Apr 19

PMID 30996850

Citations 4

Authors

Ahmed G Elsayed

Aeesha Ranavaya

Muhammad Omer Jamil

Affiliations

Soon will be listed here.

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 , 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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