Yoshiki Yumiko, Asai Takashi, Ichikawa Motoshi, Hangaishi Akira, Ota Satoshi, Imai Yoichi, Takahashi Tsuyoshi, Kurokawa Mineo
Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo, Japan.
Intern Med. 2011;50(21):2649-52. doi: 10.2169/internalmedicine.50.5783. Epub 2011 Nov 1.
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.
JAK2基因的激活突变V617F，已被发现是骨髓增殖性肿瘤（MPN）中的常见突变，包括真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）。这种突变不仅在MPN中可见，在慢性粒单核细胞白血病、骨髓增生异常综合征和急性髓系白血病（AML）中也有发现。我们报告了1例髓系肉瘤和骨髓纤维化，随后发展为继发性AML的病例，该病例检测到JAK2 V617F纯合突变。本报告描述了首例伴有JAK2 V617F突变的髓系肉瘤病例及其向AML进展的情况。
