Rice M, Breen C J, O'Meara A, Breatnach F, O'Marcaigh A S, Stallings R L
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Dublin, Ireland.
Pediatr Hematol Oncol. 2000 Mar;17(2):141-7. doi: 10.1080/088800100276497.
Comparative genomic hybridization (CGH) was used to clarify the chromosomal status of 15 patients diagnosed with childhood acute lymphoblastic leukemia (ALL). Bone marrow samples from 10 of the 15 patients were selected because no metaphases were obtained for cytogenetic analysis. Three patients with normal trypsin and giemsa banding (GTG) karyotypes were also studied by CGH to determine whether significant abnormalities might have been missed by banding analysis, and samples from an additional 2 patients with hyperdiploidy were also included. Seven of the 10 patients with failed GTG banding analysis were found to be chromosomally abnormal by CGH; 2 out of 3 patients with normal GTG band karyotypes were abnormal, indicating that the metaphases available for karyotyping were not malignant cells, and that CGH analysis of hyperdiploid samples provided more accurate resolution than karyotyping alone. The prognostic value of chromosomal aberrations detected by CGII and the efficiency of the technique suggest a central role for CGH in routine clinical cytogenetics.
采用比较基因组杂交（CGH）技术来明确15例被诊断为儿童急性淋巴细胞白血病（ALL）患者的染色体状况。从15例患者中的10例获取骨髓样本，因为未获得用于细胞遗传学分析的中期分裂相。还对3例胰蛋白酶和吉姆萨显带（GTG）核型正常的患者进行了CGH研究，以确定显带分析是否可能遗漏了显著异常，另外还纳入了2例超二倍体患者的样本。在10例GTG显带分析失败的患者中，7例经CGH检测发现存在染色体异常；3例GTG核型正常的患者中有2例异常，这表明用于核型分析的中期分裂相并非恶性细胞，并且对超二倍体样本进行CGH分析比单独进行核型分析能提供更准确的分辨率。CGH检测到的染色体畸变的预后价值以及该技术的效率表明CGH在常规临床细胞遗传学中具有核心作用。
