【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。【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.