Estop A M, Sherer C, Cieply K, Groft D, Burcoglu A, Jhanwar S, Thomas J
Center for Medical Genetics, Allegheny General Hospital, Pittsburgh, PA 15212, USA.
Cancer Genet Cytogenet. 1997 Jul 15;96(2):174-6. doi: 10.1016/s0165-4608(96)00298-1.
A patient with chronic myeloid leukemia (CML), a normal karyotype and a BCR-ABL rearrangement is presented. Southern blot analysis detected the rearrangement, whereas RT-PCR with b2a2 and b3a2 primers did not. Fluorescence in situ hybridization (FISH) with an ABL probe (9q34.2) and an Mbcr probe (22q11) showed ABL and BCR signals on chromosome 22. Subsequent FISH studies with cosmids mapping to 9q34.3 showed normal hybridization patterns to chromosome 9, suggesting an interstitial insertion of ABL containing DNA sequences into chromosome 22 in this patient. The lack of reciprocal translocation sequences was investigated with RT-PCR, primers a1b and c7. The absence of ABL-BCR gene expression in this and other patients described in the literature with this subtype of Ph-negative CML, does not seem to have an impact on the clinical course of the disease.
本文报告了一例慢性髓性白血病（CML）患者，其核型正常，但存在BCR-ABL重排。Southern印迹分析检测到了重排，而使用b2a2和b3a2引物进行的RT-PCR未检测到。使用ABL探针（9q34.2）和Mbcr探针（22q11）进行的荧光原位杂交（FISH）显示22号染色体上有ABL和BCR信号。随后使用定位到9q34.3的黏粒进行的FISH研究显示与9号染色体的杂交模式正常，提示该患者存在含ABL的DNA序列插入22号染色体的间插。使用引物a1b和c7通过RT-PCR研究了相互易位序列的缺失情况。该患者以及文献中描述的其他该Ph阴性CML亚型患者中ABL-BCR基因表达的缺失似乎对疾病的临床进程没有影响。
