大的种系拷贝数变异作为儿童肿瘤的易感因素。
Large germline copy number variations as predisposing factor in childhood neoplasms.
作者信息
Krepischi Ana Cristina Victorino, Capelli Leonardo Pires, Silva Amanda Gonçalves, de Araújo Érica Sara Souza, Pearson Peter Lees, Heck Benjamin, da Costa Cecília Maria Lima, de Camargo Beatriz, Rosenberg Carla
机构信息
International Research Center, A C Camargo Cancer Center, São Paulo, São Paulo, Brazil.
出版信息
Future Oncol. 2014;10(9):1627-33. doi: 10.2217/fon.14.41.
AIMS
Constitutive genetic factors are believed to predispose to cancer in children. This study investigated the role of rare germline copy number variations (CNVs) in pediatric cancer predisposition.
PATIENTS & METHODS: A total of 54 patients who developed cancer in infancy were screened by array-CGH for germline CNVs.
RESULTS
In total, 12 rare CNVs were detected, including a Xq27.2 triplication, and two >1.8 Mb deletions: one of them at 13q31, containing only RNA genes, and another at 3q26.33-q27.1, in a patient with congenital malformations. Detected rare CNVs are significantly larger than those identified in controls, and encompass genes never implicated in cancer predisposition.
CONCLUSION
Our results suggest that constitutive CNVs contribute to the etiology of pediatric neoplasms, revealing new candidate genes for tumorigenesis.
目的
先天性遗传因素被认为易导致儿童患癌。本研究调查了罕见种系拷贝数变异（CNV）在儿童癌症易感性中的作用。
患者与方法
对54例在婴儿期患癌的患者进行了阵列比较基因组杂交（array-CGH）筛查，以检测种系CNV。
结果
共检测到12个罕见的CNV，包括一个Xq27.2重复，以及两个大于1.8 Mb的缺失：其中一个位于13q31，仅包含RNA基因，另一个位于3q26.33-q27.1，该患者伴有先天性畸形。检测到的罕见CNV明显大于在对照组中发现的CNV，并且包含从未与癌症易感性相关的基因。
结论
我们的结果表明，先天性CNV促成了儿童肿瘤的病因，揭示了肿瘤发生的新候选基因。
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