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首页> 外文期刊>American journal of medical genetics, Part A >Wilms Tumor Incidence in Children With 2q Terminal Deletions: A Cohort Study
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Wilms Tumor Incidence in Children With 2q Terminal Deletions: A Cohort Study

机译：有2q期终末期删除的儿童的威尔姆斯肿瘤发病率：一项队列研究

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Three individuals with chromosome 2q terminal deletions have been reported in the medical literature to have developed Wilms tumor. By looking at a UK national cohort, we aimed to ascertain the chance of an individual with a 2q terminal deletion developing a Wilms tumor. The objective was to clarify screening recommendations. All individuals over a 40-year period with chromosome 2q terminal deletions were ascertained from the Chromosome Abnormality Database. The names and dates of birth of these individuals were obtained from the Regional Cytogenetic Departments where the original chromosome analyses were performed. These data were collated and compared with the National Registry of Childhood Tumors. One hundred twenty-nine subjects were identified over a 40-year study period. Only a single individual in our national cohort was affected by Wilms tumor. This individual had an add(2) (q35) karyotype. We conclude that the incidence of Wilms tumor in the majority of individuals with a 2q terminal deletion is low, and is below the recommended threshold for surveillance for tumor development.
机译：在医学文献中已经报道了3个具有染色体2q末端缺失的个体发展为Wilms肿瘤。通过查看英国的一个国家队列，我们​​旨在确定具有2q末端缺失的个体发生Wilms肿瘤的机会。目的是澄清筛选建议。从染色体异常数据库中确定了40年内所有具有2q末端染色体缺失的个体。这些人的姓名和出生日期是从进行原始染色体分析的地区细胞遗传学部门获得的。将这些数据进行整理，并与国家儿童肿瘤登记处进行比较。在40年的研究期内，确定了129名受试者。我们国家队列中只有一个人受到威尔姆斯瘤的影响。这个人有一个add（2）（q35）核型。我们得出的结论是，在大多数带有2q末端缺失的个体中，Wilms肿瘤的发生率很低，并且低于监测肿瘤发展的推荐阈值。

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