【摘要】 目的观察t(4;22)致血小板源性生长因子受体α(the platelet-derived growth factor receptor alpha,PDGFRA)异常的髓系/淋巴系肿瘤的临床特点。方法对2010年6月收治的1例t(4;22)致PDGFRA异常的髓系/淋巴系肿瘤患者的临床资料进行回顾性分析,并对其临床特点、实验室检查、诊断、治疗进行总结。结果该疾病临床表现及骨髓涂片检查类似慢性粒细胞白血病(chronic myelogenous leukemia,CML),但无CML特征性Ph染色体和(或)BCR/ABL融合基因,而细胞遗传学检测显示4号与22号染色体易位,诊断为t(4;22)致PDGFRA异常的髓系/淋巴系肿瘤。采用羟基脲及干扰素治疗后可获得完全血液学缓解。结论 t(4;22)致PDGFRA异常的髓系/淋巴系肿瘤是一类罕见疾病,临床表现与CML相似,t(4;22)及BCR/PDGFRA融合基因阳性是诊断该类疾病的关键。更多还原

【Abstract】 Objective To observe the clinical features of myeloid and lymphoid neoplasms with t(4;22) induced abnormalities of the platelet-derived growth factor receptor alpha(PDGFRA) to increase the identification and reduce the misdiagnosis.Methods The clinical data of one patient with myeloid and lymphoid neoplasm with t(4;22) induced abnormalities of PDGFRA diagnosed in June 2010 was retrospectively analyzed.We summarized the clinical features,morphology,genetics,diagnostic criteria and therapy about this kind of disease.Results The patient had a clinical manifestation and bone marrow smear result of chronic myelogenous leukemia(CML).But the result of genetic analysis found no translocation of chromosomes 9 and 22 juxtaposing BCR and ABL gens.Cytogenetic analysis showed an abnormal karyotype with rearrangement of chromosomes 4 and 22.So the patient was diagnosed myeloid and lymphoid neoplasms with t(4;22) induced abnormalities of PDGFRA.After receiving interferon and hydroxyurea,the patient achieved complete hematologic remission.Conclusion Myeloid and lymphoid neoplasms with t(4;22) induced abnormalities of PDGFRA is a rare kind of disease.Its clinical feature is similar to that of CML.The key of diagnosis is genetics.更多还原