Yasar Duygu, Karadogan Ihsan, Alanoglu Guchan, Akkaya Bahar, Luleci Guven, Salim Ozan, Timuragaoglu Aysen, Toruner Gokce A, Berker-Karauzum Sibel
Department of Medical Biology and Genetics, Akdeniz University, Antalya 07508, Turkey.
Cancer Genet Cytogenet. 2010 Mar;197(2):122-9. doi: 10.1016/j.cancergencyto.2009.11.018.
We have performed a retrospective array-based comparative hybridization (array-CGH) study on 41 acute leukemia samples [n=17 acute lymphoblastic leukemia (ALL) patients only at diagnosis, n=3 ALL patients both at diagnosis and relapse; n=20 acute myeloid leukemia (AML) patients only at diagnosis and n=1 AML patient both at diagnosis and relapse] using an Agilent 44K array. In addition to previously detected cytogenetic aberrations, we observed cryptic aberrations in 95% of ALL and 90.5% of AML cases. ALL-specific recurrent abnormalities were RB1 (n=3), PAX5 (n=4), and CDKN2B (n=3) deletions; AML-specific recurrent abnormalities were HOXA9 and HOXA10 (n=2) deletions and NOTCH1 duplication (n=2). Recurrent duplication of the ELK1 oncogene was observed in both ALL (n=2) and AML (n=3) cases. Our results demonstrate that oligo-array CGH (oaCGH) is an effective method for defining copy number alterations and identification of novel recurring unbalanced abnormalities. At least for now, however, the use of oaCGH for routine diagnosis still has some restrictions.
我们使用安捷伦44K芯片，对41例急性白血病样本进行了基于芯片的回顾性比较基因组杂交（array-CGH）研究，其中包括17例仅在诊断时的急性淋巴细胞白血病（ALL）患者，3例诊断时及复发时的ALL患者；20例仅在诊断时的急性髓系白血病（AML）患者，以及1例诊断时及复发时的AML患者。除了先前检测到的细胞遗传学异常外，我们在95%的ALL病例和90.5%的AML病例中观察到隐匿性异常。ALL特异性复发性异常为RB1（n = 3）、PAX5（n = 4）和CDKN2B（n = 3）缺失；AML特异性复发性异常为HOXA9和HOXA10（n = 2）缺失以及NOTCH1重复（n = 2）。在ALL（n = 2）和AML（n = 3）病例中均观察到ELK1癌基因的复发性重复。我们的结果表明，寡核苷酸芯片CGH（oaCGH）是定义拷贝数改变和识别新的复发性不平衡异常的有效方法。然而，至少目前，oaCGH用于常规诊断仍有一些限制。
