Valent A, Zámecníková A, Karlic H, Nowotny H, Krizan P
Department of Oncological Genetics, National Institute of Cancer, Bratislava, Slovakia.
Neoplasma. 1996;43(4):239-44.
During a 4-year period (December 1990-December 1994), among other diagnoses one hundred cases of chronic myeloid leukemia (CML) were analyzed in our department. We focused our attention on two cases with a variant form of Philadelphia translocation. Cytogenetic and molecular genetic studies were performed to resolve the status of BCR and ABL in the bone marrow or peripheral blood cells of the two CML patients with complex translocations involving chromosomes 3, 9, 22 and 9, 12, 22 respectively. In the first case the presence of Ph chromosome was detected cytogenetically, BCR-ABL translocation was detected by Southern hybridization. In the second case, only the PCR method showed BCR-ABL rearrangement. The second case, with a random variant form of Ph translocation, could be detected using different methods of clinical molecular genetics.
在1990年12月至1994年12月的4年期间，在我们科室分析的其他诊断病例中，有100例慢性髓性白血病（CML）。我们将注意力集中在两例具有费城易位变异形式的病例上。对分别涉及3号、9号、22号染色体以及9号、12号、22号染色体的复杂易位的两名CML患者的骨髓或外周血细胞进行了细胞遗传学和分子遗传学研究，以确定BCR和ABL的状态。在第一例中，通过细胞遗传学检测到了Ph染色体，通过Southern杂交检测到了BCR-ABL易位。在第二例中，只有PCR方法显示出BCR-ABL重排。第二例具有随机的Ph易位变异形式，可以使用不同的临床分子遗传学方法进行检测。
