Zhao L, van Oort J, Cork A, Liang J C
Department of Laboratory Medicine, University of Texas, M. D. Anderson Cancer Center, Houston 77030.
Am J Hematol. 1993 Jul;43(3):205-11. doi: 10.1002/ajh.2830430309.
Monosomy 7 (-7) is one of the most common chromosomal abnormalities found in the leukemic cells of patients with acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS). Because patients with -7 have a poor prognosis, their identification is important for treatment planning. Conventionally, -7 is detected by the G-banding technique. This study examines the use of fluorescent in situ hybridization (FISH) methodology to detect -7 cells in interphase nuclei and metaphase chromosomes. Fifteen AML or MDS patients whose leukemic cells were found to have -7 by G-banding at disease presentation were studied. In 13 of these patients, -7 could be detected in interphase by FISH using a chromosome 7-specific centromeric DNA probe. The two patients whose leukemic cells were not detectable by interphase FISH had -7 and t(1q;7p), which were detectable by FISH in metaphase using a chromosome 7-specific painting probe. Metaphase FISH was particularly useful in further defining chromosome 7 defects in cells that contained aberrant or marker chromosomes. For example, in 6 patients, chromosome 7 sequences were detectable in aberrant or marker chromosomes by metaphase FISH, but not by G-banding. These results suggest that metaphase FISH is an important adjunct to conventional cytogenetic methods for defining chromosome 7 abnormalities in AML and MDS patients. Furthermore, interphase FISH is useful for follow-up studies in patients who are found informative for the FISH study at presentation.
单体7（-7）是急性髓系白血病（AML）和骨髓增生异常综合征（MDS）患者白血病细胞中最常见的染色体异常之一。由于-7患者预后较差，识别他们对于治疗方案的制定很重要。传统上，-7是通过G显带技术检测的。本研究探讨了使用荧光原位杂交（FISH）方法检测间期核和中期染色体中的-7细胞。对15例在疾病初发时通过G显带发现白血病细胞有-7的AML或MDS患者进行了研究。在这些患者中的13例中，使用7号染色体特异性着丝粒DNA探针通过FISH可在间期检测到-7。间期FISH无法检测到白血病细胞的2例患者有-7和t（1q；7p），使用7号染色体特异性涂染探针通过中期FISH可检测到。中期FISH在进一步确定含有异常或标记染色体的细胞中的7号染色体缺陷方面特别有用。例如，在6例患者中，通过中期FISH可在异常或标记染色体中检测到7号染色体序列，但G显带无法检测到。这些结果表明，中期FISH是传统细胞遗传学方法的重要辅助手段，用于确定AML和MDS患者的7号染色体异常。此外，间期FISH对于在初发时FISH研究有意义的患者的随访研究很有用。
