间期双色双融合荧光原位杂交技术检测成人B细胞急性淋巴细胞白血病费城染色体

Detection of the Philadelphia chromosome in adult B-lineage acute lymphoblastic leukemia using dual-color dual-fusion interphase fluorescence in situ hybridization

目的探讨成人B细胞急性淋巴细胞白血病（Bqineage acute lymphoblastic leukemia，B-ALL）中费城染色体（Philadelphia chromosome，Ph染色体）的发生率。方法应用针对BCRABL的双色双融合探针和间期荧光原位杂交（dual—color dual—fusion interphase fluorescence in situ hybridization，DDFISH）技术前瞻性检测112例初诊成人B-ALL患者染色体标本中Ph染色体，并与常规细胞遗传学（conventional cytogenetics，CC）结果进行比较。结果成功进行CC检测的89例患者中有16例（17．98％）检出Ph染色体，而DD-FISH检测112例发现35例（31．25％）Ph染色体，阳性细胞率为18．50％～99．00％（平均66．23％）。35例DD-FISH检测出Ph＋的成人B—ALL患者中，10例未能成功进行CC检测，5例核型正常，16例检出Ph染色体，20例核型异常患者中13例为复杂异常。结论Ph染色体在成人BALL中以DD-FISH检测发生率为31．25％；用BCR—ABL探针进行DD-FISH为检测Ph染色体提供了有效的方法，是细胞遗传学检查的重要补充；对成人B-ALL患者应常规进行DD-FISH检测。

Objective To investigate the incidence of Philadelphia chromosome （Ph） in adult B lineage acute lymphoblastic leukemia （B-ALL）. Methods One hundred and twelve adult patients with previously untreated B-ALL were prospectively investigated by interphase dual-color dual fusion fluorescence in situ hybridization （DI）-FISH） with two-color break apart probe BCR-ABL and the results were compared with that of conventional cytogenetics （CC）. Results The incidence of Ph chromosome was 17.98% （16/89） and 31.25% （35/112） byCCandDD-FISH, respectively. The mean positive rate of Ph^＋ cells by FISH was 66.23% （ranging 18. 5%-99%）. Of the 35 Ph^＋ ALL patients by FISH, 25 were successfully karyotyped by CC which included 5 normal karyotypes, 20 abnormal karyotypes including 16 Ph chromosome and 13 complex abnormalities. Conclusion The incidence of Ph chromosome was 31. 25% in adult with B-ALL. DD-FISH with BCR-ABL probe provides a powerful technique for the diagnosis of Ph4 BALL. It is an important supplement to the CC analysis. DD-FISH technique should be used as a routine method for the diagnosis for adult acute B-ALL.