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伴PDGFRB基因重排髓系肿瘤1例并文献复习 被引量:3

Myeloid neoplasm with the abnormality of PDGFRB gene: case report and literature review
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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。 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 splenomeg aly. In different stage she successively manifested erythrocytosis, thrombocytosis, splenomegaly, anemia, leukocyto sis 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.
出处 《临床血液学杂志》 CAS 2012年第6期715-716,共2页 Journal of Clinical Hematology
关键词 髓系肿瘤 PDGFRB基因 HIP1 PDGFRB融合基因 伊马替尼 myeloid neoplasm PDGFRB gene HIP 1/PDGFRB imatinib
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  • 1VARDIMAN J W, THIELE J , ARBER D A,et al.The 2008 revision of the WHO classification of mye-loid neoplasms and acute leukemia: rationale and im-portant changes[J]. Blood,2009 ,114 : 937 — 951.
  • 2BAIN B J, FLETCHER S H. Chronic eosinophilicleukemias and the myeloproliferative variant of thehypereosinophilic syndrome[J]. Immunol Allergy ClinNorth Am,2007,27:377-388.
  • 3WAIZ C, HAFERLACH C,HANEL A,et al. Identi-fication of a MY018A-PDGFRB fusion gene in aneosinophilia-associated atypical myeloproliferative ne-oplasm with a t ( 5 ; 17 ) ( q33-34 ; qll. 2 ) [ J]. GenesChromosomes Cancer,2009 ,48 : 179一 183.
  • 4GALLAGHER G,HORSMAN D E’TSANG P,et al.Fusion of PRKG2 and SPTBN1 to the platelet-derivedgrowth factor receptor beta gene ( PDGFRB) in ima-tinib-responsive atypical myeloproliferative disorders[J]. Cancer Genet Cytogenet,2008,181:46 — 51.

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