Pediatric renal tumors account for 3%–11% of childhood cancers, the most common of which is Wilms tumor or nephroblastoma. Epidemiology plays a key role in cancer …
AJ Murphy, C Cheng, J Williams, TI Shaw… - Nature …, 2023 - nature.com
Developing synchronous bilateral Wilms tumor suggests an underlying (epi) genetic predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or …
AK Büscher, BB Beck, A Melk, J Hoefele… - Clinical Journal of the …, 2016 - journals.lww.com
Results The overall mutation detection rate was high at 57%(97% in CNS and 41% in SRNS); 85% of all mutations were identified by the analysis of three single genes only …
JA Hol, R Jewell, T Chowdhury, C Duncan… - European Journal of …, 2021 - Elsevier
Since previous consensus-based Wilms tumour (WT) surveillance guidelines were published, novel genes and syndromes associated with WT risk have been identified, and …
RI Lopes, A Lorenzo - F1000Research, 2017 - ncbi.nlm.nih.gov
The objective of this article is to present an overview of recent trends in the management of Wilms' tumor. With improved survival rates in the past few decades, critical long-term …
M Lopez-Gonzalez, G Ariceta - Pediatric Nephrology, 2024 - Springer
Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Denys-Drash syndrome (DDS), Frasier …
BS Lipska-Ziętkiewicz, F Ozaltin, T Hölttä… - European Journal of …, 2020 - nature.com
Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting with massive proteinuria within the first 3 months of life almost inevitably leading to end …
In this exciting era of" next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide …
MJ Kemper, A Lemke - Frontiers in pediatrics, 2018 - frontiersin.org
Idiopathic steroid-resistant nephrotic syndrome (SRNS) is most frequently characterized by focal segmental glomerulosclerosis (FSGS) but also other histological lesions, such as …