Zaccaria A, Testoni N, Tassinari A, Celso B, Rassool F, Saglio G, Guerrasio A, Rosti G, Tura S
Centro di Genetica e Citogenetica Oncologica, Universita di Bologna, Italy.
Cancer Genet Cytogenet. 1989 Oct 15;42(2):191-201. doi: 10.1016/0165-4608(89)90087-3.
Out of 105 Philadelphia (Ph) positive chronic myeloid leukemia patients analyzed, six (5.7%) carried a variant Ph translocation, namely t(6;9;9;10;22)(q24;p13;q34;p15;q11); t(9;13;22)(q34;q21;q11);der(2)(2pter----2q31::9q21---- 9q34::22q11----22qter) and der(9)t(2;9) (9pter----9q21::2q31----2qter);t(7;9;22)(q11;q34 ;q11), 14q + ;t(7;9;22)(q35;q34;q11), and t(9;11;22) (q34;q13;q11), respectively. Five of these patients were analyzed with Southern blotting. Three of them showed an atypical molecular pattern; namely, the patient with t(9;13;22) showed no rearrangement in the breakpoint cluster region (bcr), the patient with t(7;9;22)(q35;q34;q11) showed a 3' deletion, and the patient with t(7;9;22), 14q + showed a bcr rearrangement 3' to the exon 4 of the M-BCR. Chromosome in situ hybridization studies demonstrated that in patient one, a two-step translocation occurred: the first step moved the 3' bcr from chromosome 22 to chromosome 9, and the second moved the terminal part of 22q, carrying the c-sis protooncogene, to 10p. Variant Ph translocations appear to be associated with atypical molecular breakpoints.
在分析的105例费城（Ph）阳性慢性髓性白血病患者中，6例（5.7%）携带变异型Ph易位，分别为t(6;9;9;10;22)(q24;p13;q34;p15;q11)；t(9;13;22)(q34;q21;q11)；der(2)(2pter----2q31::9q21---- 9q34::22q11----22qter)和der(9)t(2;9) (9pter----9q21::2q31----2qter)；t(7;9;22)(q11;q34 ;q11)，14q + ；t(7;9;22)(q35;q34;q11)，以及t(9;11;22) (q34;q13;q11)。对其中5例患者进行了Southern印迹分析。其中3例显示出非典型分子模式；即，携带t(9;13;22)的患者在断裂点簇区域（bcr）未出现重排，携带t(7;9;22)(q35;q34;q11)的患者出现3'端缺失，携带t(7;9;22)、14q + 的患者在M-BCR外显子4的3'端出现bcr重排。染色体原位杂交研究表明，在患者1中发生了两步易位：第一步将22号染色体上的3'bcr转移至9号染色体，第二步将携带c-sis原癌基因的22q末端部分转移至10p。变异型Ph易位似乎与非典型分子断裂点相关。
