Heim S, Kristoffersson U, Mandahl N, Mitelman F, Bekassy A N, Garwicz S, Wiebe T
Cancer Genet Cytogenet. 1986 Jul;22(3):195-201. doi: 10.1016/0165-4608(86)90155-x.
The cytogenetic, hematologic, and clinical characteristics of a 13-year-old girl with acquired t(6;9)(p23;q34) and dysmyelopoietic syndrome developing into acute myelomonocytic leukemia are described, bringing the total number of patients with t(6;9) and hematologic disease described in the literature up to 19. The diagnosis has been acute myeloid leukemia in the great majority of these patients; only four have had acute myelomonocytic leukemia. High resolution analysis at the 550 band stage localized the breakpoints in chromosomes #6 and #9 to p23 and 9q34.3, respectively. Previous investigations employing high resolution cytogenetics have mapped the typical 9q breakage site in chronic myeloid leukemia to 9q34.1. In situ hybridization studies have demonstrated that the cellular oncogene c-abl remains on the derivative 9q+ chromosome in t(6;9), whereas it is moved to the Ph marker in t(9;22). Thus, the combined data indicate that c-abl is located between 9q34.1 and 9q34.3, i.e., in subband 9q34.2 or its immediate vicinity.
描述了一名13岁患有获得性t(6;9)(p23;q34)和骨髓造血异常综合征并发展为急性粒单核细胞白血病女孩的细胞遗传学、血液学和临床特征，使文献中描述的t(6;9)和血液系统疾病患者总数达到19例。这些患者中的绝大多数诊断为急性髓系白血病；只有4例为急性粒单核细胞白血病。在550条带阶段的高分辨率分析将6号和9号染色体的断点分别定位到p23和9q34.3。先前采用高分辨率细胞遗传学的研究已将慢性髓系白血病中典型的9号染色体q臂断裂位点定位到9q34.1。原位杂交研究表明，细胞癌基因c-abl在t(6;9)中仍位于衍生的9q+染色体上，而在t(9;22)中它转移到费城染色体标记上。因此，综合数据表明c-abl位于9q34.1和9q34.3之间，即9q34.2亚带或其紧邻区域。
