Sessarego M, Fugazza G, Canepa L, Bacigalupo A, Bruzzone R, Patrone F
Dipartimento di Medicina Interna, Università di Genova, Italy.
Leuk Res. 1995 Dec;19(12):921-5. doi: 10.1016/0145-2126(95)00093-3.
A chronic myelogenous leukemia (CML) patient with a masked Ph chromosome due to the translocation (9;10;22)(q34;q24;q11) is reported. Banding analysis showed a 9q+ chromosome typical of standard t(9;22)(q34;q11), and fluorescence in situ hybridization studies confirmed the involvement of a chromosome 10 in the masked Ph formation and also the presence of 3' ABL-DNA sequences in the der(22). This complex rearrangement could be explained by two consecutive translocations: the first, a standard t(9;22) (q34;q11), the second, a translocation between a chromosome 10 and the der(22) with a breakpoint in sequences derived from chromosome 9 telomeric to the ABL gene. By reverse transcription polymerase chain reaction (RT-PCR), we studied the BCR/ABL transcript junction: a chimeric m-RNA b3-a2, indicating a breakpoint within the major breakpoint cluster region, was found.
报告了一名慢性粒细胞白血病（CML）患者，其因易位（9；10；22）（q34；q24；q11）存在隐匿性费城染色体。显带分析显示出标准t（9；22）（q34；q11）典型的9q +染色体，荧光原位杂交研究证实10号染色体参与了隐匿性费城染色体的形成，并且在der（22）中存在3' ABL - DNA序列。这种复杂的重排可以通过两个连续的易位来解释：第一个是标准的t（9；22）（q34；q11），第二个是10号染色体与der（22）之间的易位，其断点位于源自ABL基因端粒的9号染色体序列中。通过逆转录聚合酶链反应（RT-PCR），我们研究了BCR/ABL转录本连接点：发现了一种嵌合的m-RNA b3-a2，表明在主要断裂点簇区域内存在一个断点。
