髓系肿瘤PDGFRB基因异常的多态性及临床特点  

Heterogenous Abnormality Polymophism of Gene PDGFRB in Myeloid Neoplasms and its Clinical Characteristics

作　　者：王全顺[1] 高丽[1] 靖彧[1] 朱海燕[1] 杨华[1] 于力[1] 

机构地区：[1]解放军总医院血液科,北京100853

出　　处：《中国实验血液学杂志》2012年第2期291-295,共5页Journal of Experimental Hematology

摘　　要：伴有PDGFRB基因异常及嗜酸细胞增多的髓系肿瘤是2008版WHO分类中提出的新的一类髓系肿瘤。检查我院2 000余例髓系细胞异常病例,共发现伴PDGFRB基因异常的髓系肿瘤12例。本研究归纳此12例伴PDGFRB基因异常的髓系肿瘤病例的临床及实验室检查特点,并根据文献进行总结分析。结果表明,12例PDGFRB基因异常中TEL/PDGFRB融合基因5例,HIP1/PDGFRB异常2例,PDGFRB突变1例、RABAPTIN-5/PDGFRB、GIT2/PDG-FRB、TP53/PDGFRB、WDR48/PDGFRB融合基因各1例,显示出该基因异常的多态性。此类髓系肿瘤绝大多数病例有不同程度单核细胞及嗜酸细胞增多,血小板异常增多主要见于不典型的MPN、AL、CMML患者。部分病例采用酪氨酸激酶抑制剂甲磺酸伊马替尼治疗有效。结论:PDGFRB基因异常髓系肿瘤是一类异质性的髓系肿瘤,其基因异常类型与临床表现呈多态性,常有不同程度的嗜酸细胞及单核细胞增多,采用酪氨酸激酶抑制剂治疗可能有效。Myeloid neoplasms with eosinophilia and abnormalities of PDGFRB gene are a new kind of myeloid disorders in the revised 2008 WHO classification.Out of detected 2000 cases of myeloid cell abnormalities in our hospital,12 cases of myeloid neoplasms with eosinophilia and abnormalities of PDGFRB were found.This study was purposed to summarize and analyze the clinical and laboratorial characteristics of the 12 cases with PDGFRB gene abnormalities.The results indicated that among 12 cases of myeloid neoplasms with PDGFRB abnormalities,5 cases with TEL/PDGFRB fusion gene,2 cases with HEPI/PDGFRB,1 case with PDGFRB nmtation,1 case with RABAPTIN-5/PDGFRB,1 case with GIT2/PDGFRB,1 case with TP53/PDGFRB,1 case with WDR43/PDGFRB fusion gene were detected,showing the polymorphism of PDGFRB gene abnormalities.Among this kind of myeloid neoplasm patients,almost all patients manifested monocytosis and eosinophilia in defferent degree,the thrombocytosis mainly was observed in atypical myeloid neoplasms,acute leukemia,chromic myelo-monocytic leukemia patients.The treatment with imatinib mesylate for this kind of patients was effective in some cases.It is concluded that the myeloid ncoplasms with PDGFRB gene abnormalities are a kind of heterogenetic myeloid neoplasms,their gene abnormal types and clinical manifestations show polymorphism too.The monocytosis and eosinophilia appear in this kind myeloid neoplasms which may be treated with tyrosine kinase inhibitors such as imatinib mesylate.

关 键 词：PDGFRB基因 髓系肿瘤 嗜酸细胞增多症 

分 类 号：R733.3[医药卫生—肿瘤] R551.3[医药卫生—临床医学]