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A Rare Case of Essential Thrombocythemia with Coexisting JAK2 and MPL Driver Mutations

Journal of Korean Medical Science 2020년 35권 23호 p.168 ~ 168
장미애 ( Jang Mi-Ae ) - Soonchunhyang University College of Medicine Soonchunhyang University Bucheon Hospital Department of Laboratory Medicine and Genetics

서미연 ( Seo Mi-Yeon ) - Soonchunhyang University College of Medicine Soonchunhyang University Bucheon Hospital Department of Laboratory Medicine and Genetics
최경진 ( Choi Kyoung-Jin ) - Soonchunhyang University College of Medicine Soonchunhyang University Bucheon Hospital Department of Laboratory Medicine and Genetics
홍대식 ( Hong Dae-Sik ) - Soonchunhyang University College of Medicine Soonchunhyang University Bucheon Hospital Department of Internal Medicine

Abstract


Philadelphia-negative (Ph?) classical myeloproliferative neoplasms (MPNs) include polycythemia vera, essential thrombocythemia (ET), and primary myelofibrosis. Somatic driver mutations in the JAK2, CALR, and MPL genes serve as major diagnostic criteria of the Ph? MPNs and these mutations occur in a mutually exclusive manner. In this report, we describe the first case of ET harboring double mutations in JAK2 V617F and MPL. For MPL, the patient had multiple clones of MPL mutations: c.1543_1546delinsAGGG (p.Trp515_Gln516delinsArgGlu) and c.1546C>G (p.Gln516Glu). The JAK2 V617F allele burden in our patient is very low (4%) compared to the relatively high (17%?78%) allele frequency of MPL mutations. The low JAK2 mutant burden might be explained by preexisting clonal hematopoiesis before overt signs of MPNs, followed by the acquisition of a second oncogenic mutation of CALR or MPL leading to the MPN phenotype. This highlights that screening for a second driver mutation should be considered in patients with a low JAK2 mutant burden by reporting a 57-year-old Korean man with ET.

키워드

Essential Thrombocythemia; Mutation; JAK2; MPL
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