【摘要】 目的 觀察t(4; 22)致血小板源性生長因子受體α（the platelet-derived growth factor receptor alpha， PDGFRA）異常的髓系/淋巴系腫瘤的臨床特點。 方法 對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行回顧性分析，并對其臨床特點、實驗室檢查、診斷、治療進行總結。 結果 該疾病臨床表現及骨髓涂片檢查類似慢性粒細胞白血病（chronic myelogenous leukemia，CML），但無CML特征性Ph染色體和（或）BCR/ABL融合基因，而細胞遺傳學檢測顯示4號與22號染色體易位，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緩解。 結論 t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤是一類罕見疾病，臨床表現與CML相似，t(4; 22)及BCR/PDGFRA融合基因陽性是診斷該類疾病的關鍵。
【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.
引用本文： 崔菊亞,孟文彤,盧忠平,朱煥玲. t(4;22)致血小板源性生長因子受體α異常的髓系/淋巴系腫瘤臨床分析. 華西醫學, 2011, 26(4): 524-527. doi: 復制