Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão, 277, São Paulo, 05508-090, Brazil,
Med Oncol. 2013 Dec;30(4):734. doi: 10.1007/s12032-013-0734-1. Epub 2013 Oct 2.
Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare clonal hematopoietic diseases presented in the childhood. Both diseases exhibit abnormal karyotype and/or monosomy of chromosome 7 in a subgroup of patients. We screened for copy number variations (CNVs) by array-comparative genomic hybridization (aCHG) the DNA from bone marrow of six MDS and four JMML pediatric patients. Array-CGH analysis identified five cases (50%) with monosomy 7, disclosing the chromosome 7 monosomy in two patients whose samples could not be evaluated by other methods. We identified CNVs in six patients, one of which displayed loss of LMO2, an oncogene that plays a central role in hematopoietic development. Our results suggest that array-CGH is a reliable and accurate technique to identify genomic alterations in MDS and JMML.
骨髓增生异常综合征（MDS）和幼年型粒单核细胞白血病（JMML）是儿童中罕见的克隆性造血疾病。这两种疾病在一部分患者中表现为异常核型和/或 7 号染色体单体。我们通过比较基因组杂交技术（aCGH）对 6 例 MDS 和 4 例 JMML 患儿的骨髓 DNA 进行拷贝数变异（CNV）筛查。微阵列-CGH 分析发现 5 例（50%）存在 7 号染色体单体，揭示了 2 例用其他方法无法评估的患者存在 7 号染色体单体。我们在 6 例患者中发现了 CNV，其中 1 例显示 LMO2 缺失，LMO2 是一种在造血发育中起核心作用的癌基因。我们的结果表明，微阵列-CGH 是一种可靠且准确的技术，可用于识别 MDS 和 JMML 中的基因组改变。
