Myeloid neoplasm with the abnormality of PDGFRB gene: case report and literature review
-
摘要: 目的:报告1例伴有HIP1/PDGFRB融合基因的不典型慢性增殖性髓系肿瘤,并就第4版WHO造血及淋巴组织肿瘤提出的新的一类伴PDGFRB基因异常髓系肿瘤进行文献综述。方法:患者脾大、乏力15年,病程中先后出现红细胞和血小板增多、巨脾、贫血、白细胞增多、单核细胞及嗜酸粒细胞增多。结果:骨髓细胞HIP1/PDGFRB融合基因检查为阳性,酪氨酸激酶抑制剂伊马替尼治疗有效。结论:酪氨酸激酶抑制剂伊马替尼治疗伴有HIP1/PDGFRB融合基因的髓系肿瘤临床效果满意。
-
关键词:
- 髓系肿瘤 /
- PDGFRB基因 /
- HIP1/PDGFRB融合基因 /
- 伊马替尼
Abstract: Objective:To report a case of atypical myeloproliferative neoplasm with HIP1/PDGFRB gene,and to review myeloid neoplasms with eosinophilia and abnormalities of PDGFRB,a new kind of myeloid disorders in the revised 2008 WHO classification.Method:A patient was admitted because of fatigue and prominent splenomegaly.In different stage she successively manifested erythrocytosis,thrombocytosis,splenomegaly,anemia,leukocytosis monocytosis and eosinophilia.Result:The diagnosis was myeloid neoplasm with abnormality of PDGFRB.She has been treated with imatinib mesylate.Conclusion:Limatinib mesylate is effective treatment to myeloid neoplasms with eosinophilia and abnormalities of PDGFRB.-
Key words:
- myeloid neoplasm /
- PDGFRB gene /
- HIP1/PDGFRB /
- imatinib
-
-
[1] VARDIMAN J W,THIELE J,ARBER D A,et al.The 2008 revision of the WHO classification of myeloid neoplasms and acute leukemia:rationale and important changes[J].Blood,2009,114:937-951.
[2] BAIN B J,FLETCHER S H.Chronic eosinophilic leukemias and the myeloproliferative variant of the hypereosinophilic syndrome[J].Immunol Allergy Clin North Am,2007,27:377-388.
[3] WAIZ C,HAFERLACH C,HANEL A,et al.Identification of a MYOl8A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;ql1.2)[J].Genes Chromosomes Cancer,2009,48:179-183.
[4] GALLAGHER G,HORSMAN D E,TSANG P,et al.Fusion of PRKG2 and SPTBN1 to the platelet-derived growth factor receptor beta gene(PDGFRB)in imatinib-responsive atypical myeloproliferative disorders[J].Cancer Genet Cytogenet,2008,181:46-51.
-
计量
- 文章访问数: 431
- PDF下载数: 192
- 施引文献: 0