EARLY DETECTION OF NEUROBLASTOMA IN GIRLS WITH TURNERS SYNDROME

神经母细胞瘤是儿童中第三常见的癌症，超过500例。 美国每年都有新的确诊病例。慢性阻塞性肺病患儿的预后 晚期疾病令人沮丧，尽管使用越来越积极的 化疗方案。大多数病例的随机发生 神经母细胞瘤和缺乏相关的染色体异常 阻碍了对所谓的“神经母细胞瘤基因”的识别。因此，我们的 最近的经验表明，患有特纳综合征(TS)的女孩 易患神经母细胞瘤，相关肿瘤可能是 利息。我们假设一个肿瘤抑制基因存在于 X染色体和X染色体缺失可能是神经肿瘤的第一步 发展。我们建议对一组患有TS的女孩进行筛查 神经母细胞瘤使用有效的尿液分析以加强 这个协会。此外，我们还将比较它们的核型 TS患者中的神经母细胞瘤及其构成细胞遗传学 并与无TS患者的神经母细胞瘤的核型进行比较，试图 定位X染色体上的脆性部位。筛选的能力 神经母细胞瘤风险增加的儿童和对 导致这种疾病的分子异常可能导致 通过早期干预和基因治疗改善前景。

Neuroblastoma is the third most common cancer of childhood, with over 500 new cases diagnosed in the US each year. Prognosis for children with advanced disease reamins dismal despite the use of increasingly aggressive chemotherapeutic regimens. The random occurrence of most cases of neuroblastoma and the lack of associated chromosomal abnormalities has hindered the identification of so-called "neuroblastoma genes". Thus, our recent experience which suggests that girls with Turner's Syndrome (TS) are predisposed to develop neuroblastoma and related tumors may be of interest. We hypothesize that a tumor suppressor gene is present on the X chromosome and that loss of an X may be a first step in neural tumor development. We propose to screen a cohort of girls with TS for neuroblastoma using well validated urine assays in order to strengthen this association. Additionally we will compare karyotypes of neuroblastoma in TS patients, both with their constitutional cytogenetics and with karyotypes of neuroblastoma in patients without TS, in an attempt to localize the fragile site on the X chromosome. The ability to screen children at increased risk for neuroblastoma and an understanding of the molecular abnormalities which give rise to this disease may lead to improved outlook through early intervention and gene therapy.