Surveillance recommendations for children with overgrowth syndromes and predisposition to Wilms tumors and hepatoblastoma

JM Kalish, L Doros, LJ Helman, RC Hennekam… - Clinical Cancer …, 2017 - AACR
A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT),
hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes …

Pediatric renal tumor epidemiology: Global perspectives, progress, and challenges

J Libes, J Hol, JCA Neto, KL Vallance… - Pediatric blood & …, 2023 - Wiley Online Library
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 …

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q

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 …

Rapid response to cyclosporin a and favorable renal outcome in nongenetic versus genetic steroid–resistant nephrotic syndrome

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 …

[HTML][HTML] Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal …

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 …

[HTML][HTML] Recent advances in the management of Wilms' tumor

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 …

WT1-related disorders: more than Denys-Drash syndrome

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 …

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group

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 …

Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis

Z Ordulu, T Kammin, H Brand, V Pillalamarri… - The American Journal of …, 2016 - cell.com
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 …

Treatment of genetic forms of nephrotic syndrome

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 …