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Yoko Kubuki,Kotaro Shide,Takuro Kameda,Takumi Yamaji,Masaaki Sekine,Ayako Kamiunten,Keiichi Akizuki,Haruko Shimoda,Yuki Tahira,Kenichi Nakamura,Hiroo Abe,Tadashi Miike,Hisayoshi Iwakiri,Yoshihiro Taha 대한진단검사의학회 2017 Annals of Laboratory Medicine Vol.37 No.2
Dear Editor, Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN) that primarily involves the megakaryocytic lineage, and is characterized by increased numbers of large, mature megakaryocytes in bone marrow as well as sustained thrombocytosis. Mutations in JAK2 or calreticulin (CALR) are present in about 50% and 25% of patients with ET, respectively, and these mutations are thought to drive MPN [1]. CALR and JAK2 mutations are mutually exclusive in MPNs [1]. Compared with patients with JAK2-mutated ET, patients with CALR-mutated ET have lower Hb levels and lower numbers of granulocytes, but higher numbers of platelets [2-6]. The CALR-mutated patients also have a lower incidence of thrombosis during their clinical course. Genetic background such as race may influence the risk of thrombosis, and recent study reported that Japanese ET patients with JAK2 mutation had a higher cumulative incidence of thrombosis than those with CALR mutations, although the differences were not significant [6]. Therefore, we analyzed the impact of JAK2 and CALR mutations on clinical features and thrombotic events in Japanese patients with ET.