Amiel A, Yarkoni S, Slavin S, Or R, Lorberboum-Galski H, Fejgin M, Nagler A
Cytogenetics Unit, Meir General Hospital, Kfar-Saba, Israel.
Cancer Genet Cytogenet. 1994 Aug;76(1):59-64. doi: 10.1016/0165-4608(94)90073-6.
Detection of minimal residual disease and relapse remain major problems in chronic myelogenous leukemia (CML) patients following bone marrow transplantation (BMT). In order to disclose the 9;22 Philadelphia translocation, we used a fluorescence in situ hybridization (FISH) technique. BCR and ABL gene fragments were used as probes for the detection of the BCR/ABL fusion product in peripheral blood and bone marrow cells from 11 CML patients in which 5 were post-BMT. The sensitivity and specificity of this approach were compared to conventional cytogenetic and polymerase chain reaction (PCR) methods. FISH demonstrated a high degree of sensitivity (1%) for the detection of the BCR/ABL translocation in these patients. A linear correlation was found between FISH detection of the BCR/ABL fusion product and routine chromosomal analysis (r = 0.995; p < 0.001). Detection of the BCR/ABL signal by FISH was observed in all patients showing a positive PCR signal. A significant reduction in BCR/ABL signal was observed post-transplant (p < 0.001). However, the BCR/ABL translocation was detected in four of five transplanted patients immediately (0.75-2.5 months) following transplant and was found in patients with a low expression of the translocation.
在慢性粒细胞白血病（CML）患者接受骨髓移植（BMT）后，微小残留病的检测和复发仍然是主要问题。为了揭示9;22费城染色体易位，我们使用了荧光原位杂交（FISH）技术。BCR和ABL基因片段被用作探针，用于检测11例CML患者外周血和骨髓细胞中的BCR/ABL融合产物，其中5例为BMT后患者。将该方法的敏感性和特异性与传统细胞遗传学和聚合酶链反应（PCR）方法进行了比较。FISH显示在这些患者中检测BCR/ABL易位具有高度敏感性（1%）。在BCR/ABL融合产物的FISH检测与常规染色体分析之间发现了线性相关性（r = 0.995；p < 0.001）。在所有显示PCR阳性信号的患者中均观察到通过FISH检测到BCR/ABL信号。移植后观察到BCR/ABL信号显著降低（p < 0.001）。然而，在五例移植患者中的四例在移植后立即（0.
