具有异合体生殖系DIS3L2变异的儿童的威尔姆斯瘤特征
S E van Peer1, T D Treger2, J Wegert3
1Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
概括
患有威尔姆斯瘤 (WT) 和DIS3L2致病变体的儿童缺乏明显的表型,但可能具有家族性倾向. 这项研究强调了这一群体中转移和高风险瘤的高发病率.
科学领域:
- 儿科瘤学 儿科瘤学
- 癌症遗传学 癌症遗传学
- 尿生殖系统瘤
背景情况:
- 在DIS3L2的生殖系致病变体与威尔姆斯瘤 (WT) 倾向有关.
- 有限的数据存在于癌症透率和具有生殖系DIS3L2变异的个体的特征.
- 确定这些特征对于指导监督和管理战略至关重要.
研究的目的:
- 描述一个被诊断患有威尔姆斯瘤 (WT) 和异合体生殖系DIS3L2 (可能) 致病变体 ([L]PVs) 的儿童的扩展队列.
- 描述该患者组的临床表现,瘤组织学和结果.
主要方法:
- 从WT和生殖系DIS3L2 (L) PVs的儿童中回顾性收集临床和瘤数据.
- 对生殖系变异类型,家族病例和DIS3L2.2.中的体质第二次成功的存在进行分析.
- 评估瘤特征,包括双边性,转移和组织学.
主要成果:
- 确定了34名患有WT和生殖系DIS3L2 (L) PV的儿童,其中包括4例家族病例.
- 异构9删除是最常见的生殖系 (L) PVs.
- 观察到高转移率 (32%) 和高风险的骨质组织学 (24%) .
- 在20名具有可用遗传瘤数据的儿童中,在19名儿童中发现了DIS3L2的体质第二次命中.
结论:
- 患有WT和生殖系DIS3L2 (L) PV的儿童没有表现出可识别的表型.
- 生殖系DIS3L2 (L) PVs有助于家族性WT,但WT透率似乎很低.
- 观察到的转移率很高和高风险的脑叶瘤需要进一步调查.
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