【摘要】 目的 觀察t(4; 22)致血小板源性生長(zhǎng)因子受體α（the platelet-derived growth factor receptor alpha， PDGFRA）異常的髓系/淋巴系腫瘤的臨床特點(diǎn)?！》椒ā?duì)2010年6月收治的1例t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤患者的臨床資料進(jìn)行回顧性分析，并對(duì)其臨床特點(diǎn)、實(shí)驗(yàn)室檢查、診斷、治療進(jìn)行總結(jié)?！〗Y(jié)果 該疾病臨床表現(xiàn)及骨髓涂片檢查類(lèi)似慢性粒細(xì)胞白血?。╟hronic myelogenous leukemia，CML），但無(wú)CML特征性Ph染色體和（或）BCR/ABL融合基因，而細(xì)胞遺傳學(xué)檢測(cè)顯示4號(hào)與22號(hào)染色體易位，診斷為t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤。采用羥基脲及干擾素治療后可獲得完全血液學(xué)緩解?！〗Y(jié)論 t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤是一類(lèi)罕見(jiàn)疾病，臨床表現(xiàn)與CML相似，t(4; 22)及BCR/PDGFRA融合基因陽(yáng)性是診斷該類(lèi)疾病的關(guān)鍵?！続bstract】 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.