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伴有嗜酸性粒细胞增多、嗜碱性粒细胞增多、t(4;14)(q12;q24)及血小板衍生生长因子受体α(PDGFRA)重排的治疗相关急性髓系白血病:一例报告并文献复习

Therapy-related acute myeloid leukemia with eosinophilia, basophilia, t(4;14)(q12;q24) and PDGFRA rearrangement: a case report and review of the literature.

作者信息

Zhou Jun, Papenhausen Peter, Shao Haipeng

机构信息

Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer Center and Research Institute 12902 Magnolia Drive, Tampa, FL, USA.

Cytogenetics Laboratory, Laboratory Corporation of America Research Triangle Park, NC, USA.

出版信息

Int J Clin Exp Pathol. 2015 May 1;8(5):5812-20. eCollection 2015.

Abstract

The myeloid and lymphoid neoplasms with eosinophilia and PDGFRA gene rearrangements usually show a good response to Imatinib and are typically associated with a normal karyotype, occasionally exhibiting a secondary chromosomal abnormality associated with clonal evolution. Five variant translocations involving PDGFRA have been reported. Here, we report a rare case of therapy-related acute myeloid leukemia with PDGFRA rearrangement after chemotherapy for prior B lymphoblastic leukemia (B-ALL). The patient had a history of BCR-ABL negative, hypodiploid B-ALL in complete remission after chemotherapy. However, 15 months later the patient developed acute myeloid leukemia with rapidly increasing eosinophilia, basophilia and a complex karyotype that included a novel t(4;14)(q12;q24). FIP1L1 was not associated with the PDGFRA rearrangement. The patient had a very aggressive clinical course, and died from the disease shortly after diagnosis. This is the first case of a primary therapy-related myeloid neoplasm with secondary PDGFRA rearrangement. The t(4:14)(q12;q24) is joining the growing list of the variant translocations involving PDGFRA.

摘要

伴有嗜酸性粒细胞增多和PDGFRA基因重排的髓系和淋系肿瘤通常对伊马替尼反应良好,且通常与正常核型相关,偶尔会出现与克隆进化相关的继发性染色体异常。已报道了5种涉及PDGFRA的变异易位。在此,我们报告1例罕见的治疗相关急性髓系白血病,该患者既往患B淋巴细胞白血病(B-ALL),化疗后出现PDGFRA重排。患者有BCR-ABL阴性、亚二倍体B-ALL病史,化疗后处于完全缓解状态。然而,15个月后患者发生急性髓系白血病,嗜酸性粒细胞、嗜碱性粒细胞迅速增多,核型复杂,包括一种新的t(4;14)(q12;q24)。FIP1L1与PDGFRA重排无关。患者临床病程进展迅速,诊断后不久死于该病。这是首例原发性治疗相关髓系肿瘤伴继发性PDGFRA重排的病例。t(4:14)(q12;q24)加入了越来越多的涉及PDGFRA的变异易位列表中。

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