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

目的 探讨成人B细胞急性淋巴细胞白血病(B-lineage acute lymphoblastic leukemia.BALL)中费城染色体(Philadelphia chromosome,Ph染色体)的发生率.方法 应用针对BCR-ABL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B-ALL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.

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

Objective To investigate the incidence of Philadelphia chromosome(Ph)in adult Blineage acute lymphoblastic Ieukemia(B-ALL).Methods Ome hundred and twelve adult patients with previously untreated B-ALL were prospectively investigated by interphase dual-color dual-fusion fluorescence in situ hybridization(DD-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)by CC and DD-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 in cluding 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 Ph+ B-ALL.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.