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伊马替尼成功治疗1例因t(5;14)(q33;q22)导致的伴有嗜酸性粒细胞增多和PDGFRB异常的髓系肿瘤患者

[Successful treatment with imatinib for a patient with myeloid neoplasms with eosinophilia and abnormalities of PDGFRB due to t (5;14)(q33;q22)].

作者信息

Fujii Tomoki, Ohno Nobuhiro, Matsui Tomoharu, Kitahara Shinsuke, Kobayashi Seiichiro, Sahara Naohi, Sakamoto Nami, Matsunaga Takashi

机构信息

Department of Hematology, Kantoh Rosai Hospital.

Department of Oncology, Kantoh Rosai Hospital.

出版信息

Rinsho Ketsueki. 2021;62(11):1635-1638. doi: 10.11406/rinketsu.62.1635.

DOI:10.11406/rinketsu.62.1635
PMID:34866089
Abstract

A 50-year old man with a 1-year history of eosinophilia presented with an eosinophil count exceeding 13,800/mm in the peripheral blood at the first visit. Bone marrow examination revealed that eosinophils accounted for 30% of the nucleated cell count, and G-band karyotyping analysis detected t (5;14)(q33;q22). Using peripheral blood FISH test, he was found to have platelet-derived growth factor receptor β (PDGFRB) locus rearrangement at 5q32-33. The level of eosinophils in the peripheral blood reduced markedly 3 days after the initiation of Imatinib mesylate, 400 mg daily. This treatment was administered for 2 years, after which the peripheral blood FISH test was negative for PDGFRB. In this disease, although most cases are with t (5;12), those with t (5;14) are relatively rare, and the long-term course of this translocation is unknown.

摘要

一名有1年嗜酸性粒细胞增多病史的50岁男性,初诊时外周血嗜酸性粒细胞计数超过13,800/mm³。骨髓检查显示嗜酸性粒细胞占核细胞计数的30%,G带核型分析检测到t(5;14)(q33;q22)。通过外周血荧光原位杂交检测,发现他在5q32-33处有血小板衍生生长因子受体β(PDGFRB)基因座重排。开始每天服用400mg甲磺酸伊马替尼3天后,外周血嗜酸性粒细胞水平显著降低。该治疗持续了2年,之后外周血荧光原位杂交检测PDGFRB为阴性。在这种疾病中,虽然大多数病例为t(5;12),但t(5;14)的病例相对少见,这种易位的长期病程尚不清楚。

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