Verma R S, Macera M J, Benn P, Groffen J
Long Island College Hospital, SUNY Health Science Center, Brooklyn.
Oncogene. 1989 Sep;4(9):1145-8.
Five to ten percent of the Ph-positive cases of chronic myelogenous leukemia (CML), termed variant translocations, involve at least one chromosome in addition to 9 and 22 in the abnormality. The involvement of chromosome 9 band q34, where the c-abl oncogene has been localized, is not always cytogenetically detectable in so called variant translocations due to complex rearrangements. We present two cases having the most frequently involved chromosomes (#3 and #17) in such translocations. In one case, both chromosome 9's were cytogenetically normal while in the other, band 9q34 was so called 'masked' or 'hidden'. After molecular evaluation using in situ hybridization and Southern blotting techniques, the involvement of the altered bcr/abl gene was demonstrated and the cytogenetic analysis was revised. Utilization of molecular probes in the evaluation of such cases should become a routine diagnostic procedure in detecting the exchange of bcr and c-abl sequences.
在慢性粒细胞白血病（CML）的Ph阳性病例中，有5%至10%被称为变异易位，除了9号和22号染色体外，异常中至少还涉及一条染色体。c-abl癌基因所在的9号染色体q34带，由于复杂的重排，在所谓的变异易位中并不总是能通过细胞遗传学检测到。我们展示了两例在这种易位中最常涉及的染色体（3号和17号）的病例。在一例中，两条9号染色体在细胞遗传学上均正常，而在另一例中，9q34带被称为“隐蔽”或“隐藏”。在使用原位杂交和Southern印迹技术进行分子评估后，证实了改变的bcr/abl基因的参与，并对细胞遗传学分析进行了修订。在评估此类病例时使用分子探针应成为检测bcr和c-abl序列交换的常规诊断程序。
