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Hematology Reports
Volume 11
Issue 1
10.4081/hr.2019.7868
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Case Report

MPL Y252H and MPL F126fs Mutations in Essential Thrombocythemia: Case Series and Review of Literature

by
Ahmed G. Elsayed
1,2,*,
Aeesha Ranavaya
3 and
Muhammad Omer Jamil
3
1
Hematology Oncology Department, Promedica/University of Toledo, Toledo, OH 43606, USA
2
Flowers Hospital, Medical Office Building II Suite 055, 5308 Harroun Rd, Sylvania, OH 43560, USA
3
Hematology/Oncology Department, Joan C. Edwards School of Medicine, Marshall University, Huntington, WV 25755, USA
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2019, 11(1), 7868; https://doi.org/10.4081/hr.2019.7868
Submission received: 16 September 2018 / Revised: 1 February 2019 / Accepted: 15 February 2019 / Published: 12 March 2019

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.
Keywords: MPL mutations; essential thrombocythemia.; myeloproliferative disease; MPL Y252H and MPL F126fs MPL mutations; essential thrombocythemia.; myeloproliferative disease; MPL Y252H and MPL F126fs

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MDPI and ACS Style

Elsayed, A.G.; Ranavaya, A.; Jamil, M.O. MPL Y252H and MPL F126fs Mutations in Essential Thrombocythemia: Case Series and Review of Literature. Hematol. Rep. 2019, 11, 7868. https://doi.org/10.4081/hr.2019.7868

AMA Style

Elsayed AG, Ranavaya A, Jamil MO. MPL Y252H and MPL F126fs Mutations in Essential Thrombocythemia: Case Series and Review of Literature. Hematology Reports. 2019; 11(1):7868. https://doi.org/10.4081/hr.2019.7868

Chicago/Turabian Style

Elsayed, Ahmed G., Aeesha Ranavaya, and Muhammad Omer Jamil. 2019. "MPL Y252H and MPL F126fs Mutations in Essential Thrombocythemia: Case Series and Review of Literature" Hematology Reports 11, no. 1: 7868. https://doi.org/10.4081/hr.2019.7868

APA Style

Elsayed, A. G., Ranavaya, A., & Jamil, M. O. (2019). MPL Y252H and MPL F126fs Mutations in Essential Thrombocythemia: Case Series and Review of Literature. Hematology Reports, 11(1), 7868. https://doi.org/10.4081/hr.2019.7868

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