Array comparative genomic hybridization analysis of adult acute leukemia patients
Array comparative genomic hybridization analysis of adult acute leukemia patients
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DOI：
10.1016/j.cancergencyto.2009.11.018
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发表时间：
2010-03-01
影响因子：
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通讯作者：
Berker-Karauzum, Sibel
中科院分区：
文献类型：
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作者：
Yasar, Duygu;Karadogan, Ihsan;Berker-Karauzum, Sibel
我们使用Agilent 44 K阵列对41例急性白血病样本[n = 17例急性淋巴细胞白血病（ALL）患者仅在诊断时，n = 3例ALL患者在诊断和复发时; n = 20例急性髓细胞白血病（AML）患者仅在诊断时，n = 1例AML患者在诊断和复发时]进行了回顾性基于阵列的比较杂交（阵列CGH）研究。除了先前检测到的细胞遗传学畸变外，我们还在95%的ALL和90.5%的AML病例中观察到隐性畸变。ALL特异性复发异常为RBI（n = 3）、PAX 5（n = 4）和CDKN 2B（n = 3）缺失; AML特异性复发异常为HOXA 9和HOXA 10（n = 2）缺失和NOTCH 1重复（n = 2）。在ALL（n = 2）和AML（n = 3）病例中均观察到ELK 1癌基因的复发性重复。我们的研究结果表明，寡核苷酸阵列CGH（oaCGH）是一种有效的方法，用于定义拷贝数的变化和识别新的复发性不平衡异常。但至少目前，oaCGH用于常规诊断仍有一定的局限性。(C)2010年爱思唯尔公司All rights reserved.
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 44 K 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 RBI (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. (C) 2010 Elsevier Inc. All rights reserved.