PDGFRB基因易位的不典型慢性髓细胞白血病的临床观察  

Clinical observation of atypic chronic myeloid leukemia involving translocation of PDGFRB gene

作　　者：吕书晴[1] 龚胜蓝[1] 杨建民[1] 黄崇媚[1] 韩凤来[1] 王健民[1] 

机构地区：[1]第二军医大学长海医院血液内科,上海200433

出　　处：《临床肿瘤学杂志》2011年第5期444-448,共5页Chinese Clinical Oncology

摘　　要：目的探讨涉及PDGFRB基因易位的不典型慢性髓细胞白血病(CML)的诊断和治疗。方法对1例不典型CML患者进行骨髓细胞染色体核型分析,RT-PCR检测bcr/ab l融合基因,荧光原位杂交(FISH)检测PDGFRB基因易位,羟基脲和干扰素治疗并观察疗效。结果该例患者的骨髓细胞染色体核型为46,XY,t(5;12)(q33,p13),bcr/ab l融合基因阴性,FISH检测证实PDGFRB基因的断裂易位。应用羟基脲和干扰素治疗,随访34个月,外周血象平稳,骨髓未缓解。结论 PDGFRB基因易位的不典型CML是一特殊的MPD亚型,确诊依赖分子生物学检查,伊马替尼治疗可以改善该亚型MPD患者的预后。Objective To introduce the diagnosis and treatment of patients with atypic chronic myeloid leukemia（CML） involving the translocation of platelet-derived growth factor receptor beta（PDGFRB） gene.Methods Cytogenetic studies,bcr/abl fusion gene detecting by RT-PCR,PDGFRB gene detecting by fluorescence in situ hybridization（FISH） of bone marrow cells from a patient with atypic CML were demonstrated.This patient was treated with hydroxycarbamide and interferon.Results The karyotype of bone marrow cells was 46,XY,t（5;12）（q33,p13）.Bcr/abl fusion gene was negative.The disruption of the PDGFRB gene was confirmed positively by FISH.The blood cell counts of this patient remained normal,but the bone marrow remained no response after 34 months follow up.Conclusion This patient with atypic CML belongs to a recognized subgroup of MPD involving the translocation of PDGFRB gene.The diagnosis need molecular biology detection.Imatinib can improve the prognosis of patients with this subgroup MPD.

关 键 词：慢性髓细胞白血病 PDGFRB 酪氨酸激酶抑制剂 伊马替尼 

分 类 号：R733.72[医药卫生—肿瘤]