Rieder H, Bonwetsch C, Janssen L A, Maurer J, Janssen J W, Schwartz S, Ludwig W D, Gassmann W, Bartram C R, Thiel E, Löffler H, Gökbuget N, Hoelzer D, Fonatsch C
Abteilung Klinische Genetik, Medizinisches Zentrum für Humangenetik, Philipps-Universität, Marburg, Germany.
Leukemia. 1998 Sep;12(9):1473-81. doi: 10.1038/sj.leu.2401127.
The value of dual-color fluorescence in situ hybridization (FISH) with BCR and ABL probes for the detection of the Philadelphia (Ph) translocation and of other alterations involving ABL and/or BCR was evaluated in adult acute lymphoblastic leukemia (ALL). One hundred and four patients were studied prospectively using interphase nuclei FISH, chromosome analysis (CA), and PCR assays for the chimeric BRC/ABL transcript. FISH detected a Ph translocation in 24 cases (23.1%), as was confirmed by CA and/or PCR. FISH revealed a false positive diagnosis of a Ph translocation in four cases (5% false positive rate). Among 54 cases with combined FISH, CA and PCR assays, FISH failed to establish a correct diagnosis in 3.7%, PCR in 5.6%, and CA in 7.4%. The combination of two screening methods led to discrepant results in 9.3% (FISH + PCR), 11.1% (FISH + CA), or 13% (CA + PCR) of the cases. In seven of 80 (8.8%) Ph-negative patients, gain of BCR and/or ABL was identified. Overall, FISH detected alterations of the BCR and/or ABL genes with an incidence of 29.8% of the current study. Due to the possibility of false positive diagnosis of a Ph translocation using dual-color FISH the combination with chromosome and/or RT-PCR analyses is recommended in adult ALL patients.
采用 BCR 和 ABL 探针的双色荧光原位杂交（FISH）技术检测成人急性淋巴细胞白血病（ALL）中费城（Ph）染色体易位以及其他涉及 ABL 和/或 BCR 的改变，对其价值进行了评估。前瞻性地对 104 例患者进行了研究，采用间期核 FISH、染色体分析（CA）以及检测嵌合性 BRC/ABL 转录本的 PCR 检测。FISH 在 24 例患者中检测到 Ph 染色体易位（23.1%），CA 和/或 PCR 证实了这一结果。FISH 在 4 例患者中显示出 Ph 染色体易位的假阳性诊断（假阳性率 5%）。在 54 例同时进行 FISH、CA 和 PCR 检测的患者中，FISH 在 3.7%的病例中未能做出正确诊断，PCR 在 5.6%的病例中未能做出正确诊断，CA 在 7.4%的病例中未能做出正确诊断。两种筛查方法的联合在 9.3%（FISH + PCR）、11.1%（FISH + CA）或 13%（CA + PCR）的病例中产生了不一致的结果。在 80 例 Ph 阴性患者中的 7 例（8.8%）中，发现了 BCR 和/或 ABL 的增加。总体而言，FISH 在本研究中检测到 BCR 和/或 ABL 基因改变的发生率为 29.8%。由于使用双色 FISH 可能出现 Ph 染色体易位的假阳性诊断，因此建议在成人 ALL 患者中联合染色体和/或 RT-PCR 分析。
