Kamath Anitha, Tara Harold, Xiang Bixia, Bajaj Renu, He Wanping, Li Peining
Molecular Cytogenetics Laboratory, Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA.
Cancer Genet Cytogenet. 2008 Jun;183(2):117-20. doi: 10.1016/j.cancergencyto.2008.02.011.
Chromosomal analysis and fluorescence in situ hybridization (FISH) have been routinely used in detecting recurrent chromosomal abnormalities in patients with various hematological malignancies. However, the genomic imbalances underlying many recurrent abnormalities could not be delineated due to the low resolution of chromosome analysis. We have performed oligonucleotide-array comparative genomic hybridization (oaCGH) in an AML case with a 15p/17p translocation, a suspected 9p21 deletion, monosomies of chromosomes X and 9, and 2 to 60 double minutes. The oaCGH findings confirmed the chromosomal observations and further characterized a 21.338-Mb 17p deletion, a 3.916-Mb deletion at 9p21.3 containing the MTAP, CDKN2A, CDKN2B, and ELAVL2 genes, and a 3.981-Mb 8q24 double minute containing the TRIB1, FAM84B, MYC, and PVT1 genes, with an average of 30 double minutes in each cell. FISH using MYC probes and bacterial artificial chromosome clone probes confirmed the genomic findings and revealed a progressional pattern for the 9p21.3 deletion. These results demonstrate the potential of oaCGH as a powerful diagnostic tool for characterizing genomic imbalances for patients with hematological malignancies.
染色体分析和荧光原位杂交（FISH）已常规用于检测各种血液系统恶性肿瘤患者的复发性染色体异常。然而，由于染色体分析分辨率低，许多复发性异常背后的基因组失衡无法明确。我们对一例急性髓系白血病（AML）患者进行了寡核苷酸阵列比较基因组杂交（oaCGH），该患者存在15p/17p易位、疑似9p21缺失、X染色体和9号染色体单体以及2至60个双微体。oaCGH结果证实了染色体观察结果，并进一步明确了一个21.338Mb的17p缺失、一个位于9p21.3的3.916Mb缺失（包含MTAP、CDKN2A、CDKN2B和ELAVL2基因）以及一个位于8q24的3.981Mb双微体（包含TRIB1、FAM84B、MYC和PVT1基因），每个细胞平均有30个双微体。使用MYC探针和细菌人工染色体克隆探针进行的FISH证实了基因组结果，并揭示了9p21.3缺失的进展模式。这些结果证明了oaCGH作为一种强大的诊断工具，用于表征血液系统恶性肿瘤患者基因组失衡的潜力。
