大约5％的Wilms肿瘤患者出现同步双侧疾病。同步双侧Wilms肿瘤（BWT）的发展高度暗示了遗传或表观遗传易感性。对Wilms肿瘤具有已知种系易感性的患者（WT1变体，贝克汉姆威德曼光谱，TRIM28变体)具有较高的BWT发生率。这个儿童肿瘤组织（COG）-国际儿童肿瘤学会（SIOP-）HARMONICA儿童肾肿瘤倡议综述详细介绍了BWT发育的种系遗传和表观遗传易感性，强调11p15.5中的改变(ICR1甲基化的获得，父系单亲偏见，和合子后体细胞镶嵌)，WT1、TRIM28和REST。导致BWT的分子机制通常也存在于多灶性肾母细胞瘤(一个或两个肾脏中的多个单独的肿瘤)中。我们确定了国际合作研究的优先领域，以更好地了解易感遗传或表观遗传因素与新辅助化疗反应的相关性。肿瘤学结果，和长期肾功能结果。
Approximately 5% of patients with Wilms tumor present with synchronous bilateral disease. The development of synchronous bilateral Wilms tumor (BWT) is highly suggestive of a genetic or epigenetic predisposition. Patients with known germline predisposition to Wilms tumor (WT1 variants, Beckwith Wiedemann spectrum,
TRIM28 variants) have a higher incidence of BWT. This Children\'s Oncology Group (COG)-International Society for Pediatric Oncology (SIOP-) HARMONICA initiative review for pediatric renal tumors details germline genetic and epigenetic predisposition to BWT development, with an emphasis on alterations in 11p15.5 (ICR1 gain of methylation, paternal uniparental disomy, and postzygotic somatic mosaicism), WT1,
TRIM28, and REST. Molecular mechanisms that result in BWT are often also present in multifocal Wilms tumor (multiple separate tumors in one or both kidneys). We identify priority areas for international collaborative research to better understand how predisposing genetic or epigenetic factors associate with response to neoadjuvant chemotherapy, oncologic outcomes, and long-term renal function outcomes.
