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[一名携带JAK2-V617F突变的继发性骨髓纤维化患者出现BCR-ABL1阳性慢性髓性白血病]

[BCR-ABL1-positive chronic myeloid leukemia emerging in a patient with secondary myelofibrosis harboring the JAK2-V617F mutation].

作者信息

Amemiya Ayae, Ito Yoshikazu, Ishibashi Yasunori, Saito Yuu, Katagiri Seiichiro, Suguro Tamiko, Asano Michiyo, Yoshizawa Seiichiro, Akahane Daigo, Tanaka Yuko, Fujimoto Hiroaki, Okabe Seiichi, Gotoh Moritaka, Tauchi Tetsuzo, Ohyashiki Kazuma

机构信息

Department of Hematology, Tokyo Medical University.

Department of Pathology, Tokyo Medical University Hospital.

出版信息

Rinsho Ketsueki. 2017;58(4):298-302. doi: 10.11406/rinketsu.58.298.

Abstract

A 53-year-old woman with a 27-year history of myeloproliferative neoplasms came to our hospital because of a marked white blood cell count increase and progressive anemia. Clinical examination demonstrated positivity for BCR-ABL1 and JAK2-V617F mutations. She was given a diagnosis of chronic myeloid leukemia. Using the international scale, a molecular response (MR) was achieved after treatment with dasatinib, despite the persistence of marked splenomegaly. The pathological findings of myelofibrosis were demonstrated by bone marrow biopsy. After stopping dasatinib administration for 4 years and 5 months, treatment with ruxolitinib was started. Five months later, the size of her spleen was reduced. We speculated that translocation of BCR-ABL1 might have occurred in a sub-clone of the JAK2-V617F mutated tumor clone.

摘要

一名有27年骨髓增殖性肿瘤病史的53岁女性因白细胞计数显著升高和进行性贫血前来我院就诊。临床检查显示BCR-ABL1和JAK2-V617F突变呈阳性。她被诊断为慢性髓性白血病。使用国际标准,尽管仍有明显脾肿大,但在接受达沙替尼治疗后实现了分子反应(MR)。骨髓活检显示存在骨髓纤维化的病理表现。在停用达沙替尼4年零个月后开始使用鲁索替尼治疗。五个月后,她的脾脏大小缩小。我们推测BCR-ABL1易位可能发生在JAK2-V617F突变肿瘤克隆的一个亚克隆中。

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