Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect
Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect
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DOI：
10.1016/j.ejca.2004.12.022
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发表时间：
2005-03-01
影响因子：
8.4
通讯作者：
Lohmann, DR
中科院分区：
文献类型：
--
作者：
Schüler, A;Weber, S;Lohmann, DR
遗传性癌症患者通常比非遗传性肿瘤患者更早被诊断出来。在患有孤立性单侧视网膜母细胞瘤的儿童中，其中一些人具有遗传倾向，这一规则一直存在争议。我们分析了188例完全解决突变状态的儿童疾病的临床表现。在这些患者中的24例（13%）中，血液DNA检测显示出宪法RB1突变。有体质突变和无体质突变的患者之间诊断时的年龄分布没有差异。然而，与损失的母系遗传的RB1等位基因的患者有一个较早的诊断年龄比损失的父系遗传的RB1等位基因的患者。我们的数据显示，早期诊断并不能确定孤立性单侧视网膜母细胞瘤患者是RB1基因突变携带者的风险更高。我们的研究结果表明，至少在一些患者中，诊断年龄是由父母的起源效应修改。(c)2005爱思唯尔有限公司保留所有权利。
Patients with hereditary cancer are usually diagnosed earlier than patients with non-hereditary tumours. In children with isolated unilateral retinoblastoma, some of whom have a hereditary predisposition, this rule has been subject to debate. We have analysed the clinical manifestation of disease in 188 children with completely resolved mutational status. In 24 (13%) of these patients, testing of blood DNA showed a constitutional RB1 mutation. The distribution of age at diagnosis was not different between patients with and without a constitutional mutation. However, patients with loss of the maternally inherited RB1 allele had an earlier age at diagnosis than patients with loss of the paternally inherited RB1 allele. Our data show that early age at diagnosis does not identify patients with isolated unilateral retinoblastoma that have a higher risk of being carriers of a RB1 gene mutation. Our findings suggest that, at least in some patients, age at diagnosis is modified by a parent-of-origin effect. (c) 2005 Elsevier Ltd. All rights reserved.