A Case of Myeloid Sarcoma with Correlation to JAK2V617F Mutation, Complicated by Myelofibrosis and Secondary Acute Myeloid Leukemia

Yumiko Yoshiki; Takashi Asai; Motoshi Ichikawa; Akira Hangaishi; Satoshi Ota; Yoichi Imai; Tsuyoshi Takahashi; Mineo Kurokawa

doi:10.2169/internalmedicine.50.5783

CASE REPORTS

A Case of Myeloid Sarcoma with Correlation to JAK2V617F Mutation, Complicated by Myelofibrosis and Secondary Acute Myeloid Leukemia

Yumiko Yoshiki, Takashi Asai, Motoshi Ichikawa, Akira Hangaishi, Satoshi Ota, Yoichi Imai, Tsuyoshi Takahashi, Mineo Kurokawa

Author information

Yumiko Yoshiki
Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo, Japan
Takashi Asai
Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo, Japan
Motoshi Ichikawa
Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo, Japan
Akira Hangaishi
Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo, Japan
Satoshi Ota
Department of Pathology, University of Tokyo Hospital, Japan
Yoichi Imai
Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo, Japan
Tsuyoshi Takahashi
Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo, Japan
Mineo Kurokawa
Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo, Japan

Keywords: myelofibrosis, secondary AML, JAK2V617F mutation, myeloid sarcoma

JOURNAL OPEN ACCESS

2011 Volume 50 Issue 21 Pages 2649-2652

DOI https://doi.org/10.2169/internalmedicine.50.5783

Details

Abstract

The activating mutation of JAK2, V617F, has been found as a frequent mutation in myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF). This mutation is observed not only in MPNs, but also in chronic myelomonocytic leukemia, myelodysplastic syndrome and acute myeloid leukemia (AML). We report a case of myeloid sarcoma and myelofibrosis, followed by secondary AML, with detection of homozygous JAK2 V617F mutation. This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.

Corresponding author

Register with J-STAGE for free!