Division of Hematology, Oncology, Neuro-Oncology, and Stem Cell Transplant, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Research Center, Boldrini Children's Hospital, Campinas, São Paulo, Brazil.
Pediatr Blood Cancer. 2023 May;70 Suppl 2:e30130. doi: 10.1002/pbc.30130. Epub 2023 Jan 2.
The expansion of knowledge regarding driver mutations for Wilms tumor (WT) and malignant rhabdoid tumor of the kidney (MRT) and various translocations for other pediatric renal tumors opens up new possibilities for diagnosis and treatment. In addition, there are growing data surrounding prognostic factors that can be used to stratify WT treatment to improve outcomes. Here, we review the molecular landscape of WT and other pediatric renal tumors as well as WT prognostic factors. We also review incorporation of circulating tumor DNA/liquid biopsies to leverage this molecular landscape, with potential use in the future for distinguishing renal tumors at the time of diagnosis and elucidating intratumor heterogeneity, which is not well evaluated with standard biopsies. Incorporation of liquid biopsies will require longitudinal collection of multiple biospecimens. Further preclinical research, identification and validation of biomarkers, molecular studies, and data sharing among investigators are crucial to inform therapeutic strategies that improve patient outcomes.
关于 Wilms 肿瘤 (WT) 和肾恶性横纹肌样瘤 (MRT) 的驱动基因突变以及其他儿科肾肿瘤的各种易位的知识不断扩展，为诊断和治疗开辟了新的可能性。此外，越来越多的数据围绕预后因素展开，这些因素可用于对 WT 治疗进行分层，以改善治疗效果。在这里，我们回顾了 WT 和其他儿科肾肿瘤的分子图谱以及 WT 的预后因素。我们还回顾了循环肿瘤 DNA/液体活检的应用，以利用这一分子图谱，未来有可能在诊断时区分肾肿瘤，并阐明肿瘤内异质性，而标准活检对此评估不佳。液体活检的应用需要对多个生物样本进行纵向采集。进一步的临床前研究、生物标志物的鉴定和验证、分子研究以及研究人员之间的数据共享对于提供信息治疗策略至关重要，这些策略可以改善患者的治疗效果。
