Mateo Elvis Cueva, Lorea Cecília F, Duarte Antonio A, Moreno Daniel, Neder L, Junior Silvio Tucci, Scrileli Carlos A, Tone Luiz G
Department of Pediatrics, Division of Pediatric Oncology, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil.
Cancer Genet. 2011 Jun;204(6):298-308. doi: 10.1016/j.cancergen.2011.02.006.
Adrenocortical tumors (ACT) are rare neoplasms of the adrenal glands accounting for 0.2% of all pediatric cancers. However, the incidence of ACT in South Brazilian children is 10 to 15 times greater than the worldwide incidence. Comparative genomic hybridization studies have revealed the presence of a high degree of chromosomal instability in ACT. We evaluated 16 ACT, 8 of them carcinomas and 8 adenomas. The presence of changes in DNA copy numbers was determined by comparative genomic hybridization, and the findings were validated by real-time polymerase chain reaction on the basis of IGF-II gene expression. The adenomas showed a mean of 19.7 imbalances per case, with the most frequent gain and loss being 4p15.1-p15.3 and 20p11.2-p13.2, respectively. The carcinomas presented with a mean of 35.5 imbalances per case, with the more frequent gain being 2q14.1-q24.3 and the more frequent losses being 3q21-q26.2, 20q12-qter, and 22q11.2-q13.3. The most frequent imbalances in both adenomas and carcinomas were gains of 1p21-p31.2, 2p12-p21 and loss of 20p11.2-p12. The expression of IGF-II mRNA (11p15.5) was higher in samples that presented with a gain of this region. It has been established that great genomic instability exists in pediatric ACT.
肾上腺皮质肿瘤（ACT）是肾上腺的罕见肿瘤，占所有儿童癌症的0.2%。然而，巴西南部儿童ACT的发病率比全球发病率高10至15倍。比较基因组杂交研究显示ACT中存在高度的染色体不稳定性。我们评估了16例ACT，其中8例为癌，8例为腺瘤。通过比较基因组杂交确定DNA拷贝数变化的存在，并基于IGF-II基因表达通过实时聚合酶链反应验证结果。腺瘤平均每例有19.7个失衡，最常见的增益和缺失分别是4p15.1-p15.3和20p11.2-p13.2。癌平均每例有35.5个失衡，更常见的增益是2q14.1-q24.3，更常见的缺失是3q21-q26.2、20q12-qter和22q11.2-q13.3。腺瘤和癌中最常见的失衡都是1p21-p31.2、2p12-p21的增益以及20p11.2-p12的缺失。在该区域出现增益的样本中，IGF-II mRNA（11p15.5）的表达更高。已经确定小儿ACT中存在巨大的基因组不稳定性。
