BCR - ABL 融合基因阳性的急性混合细胞白血病1例并文献复习

摘要

Objective:To investigate the clinical characteristics,biological features,clinical curative effect and out-come of mixed PhenotyPe acute leukemia(MPAL). Methods:Results of clinical data,cell morPhology,immunoPheno-tyPe,cytogenetics and molecular genetics of the MPAL Patient with BCR - ABL Positive were analyzed with literature reviews. Results:The clinical and hematological findings were comPatible with the diagnosis of MPAL. LymPhoid and myeloid markers were Positive on the leukemia cells. KaryotyPe analysis showed that the Patient had t(9;22)(q34;q11)translocation. Quantitative reverse transcriPtion PCR results showed that BCR - ABL(P210)exPressed 100% . And no deletion,Point or insert mutation was found among C - Kit(8,17 exon),FLT3 - ITD/ TKD,NPM1 and CEBPα. Conclusion:Primary MPAL with BCR - ABL Positive is rarely rePorted which have a Poor Prognosis. Some of them are cases of chronic myeloid leukemia blast crisis. BCR - ABL gene exPression is closely related to Patients' Prognosis.%目的：探讨 BCR - ABL 融合基因阳性表达的急性混合细胞白血病（MPAL）的临床特点、生物学特性、临床疗效及预后。方法：对1例 BCR - ABL 融合基因阳性的急性混合细胞白血病患者的临床资料、细胞形态学、免疫分型、细胞遗传学及分子生物学的检测结果进行综合分析。结果：患者的临床表现和实验室检测结果均符合急性混合细胞白血病诊断标准，免疫表型分析白血病细胞同时表达髓系和淋系抗原，染色体核型为46，XX，t（9；22）（q34；q11），荧光定量 PCR 检测结果示 BCR - ABL（P210）融合基因表达100%，白血病预后基因检测结果示患者 C - Kit（8、17 exon）、FLT3- ITD/ TKD、NPM1和 CEBPα基因均为野生型。结论：初发的 BCR - ABL 融合基因阳性的急性混合细胞白血病病例罕见，部分病例由慢性粒细胞白血病急变而来，预后差。BCR - ABL 基因阳性与患者预后密切相关。