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 …

Beckwith–Wiedemann syndrome

S Choufani, C Shuman… - American Journal of …, 2010 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by
overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of …

[HTML][HTML] Recognition of genetic predisposition in pediatric cancer patients: an easy-to-use selection tool

MCJ Jongmans, JLCM Loeffen, E Waanders… - European journal of …, 2016 - Elsevier
Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients
may lead to therapy adjustments in case of syndrome-related increased toxicity or resistant …

Role of DNA methylation in imprinting disorders: an updated review

AR Elhamamsy - Journal of Assisted Reproduction and Genetics, 2017 - Springer
Genomic imprinting is a complex epigenetic process that contributes substantially to
embryogenesis, reproduction, and gametogenesis. Only small fraction of genes within the …

Mosaic disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway

N Nathan, KM Keppler-Noreuil… - Dermatologic …, 2017 - derm.theclinics.com
Mosaicism may occur as a somatic mutation occurring during embryogenesis, resulting in an
organism composed of 2 (or more) genetically distinct cell lineages. 1 The resulting …

PIK3CA vascular overgrowth syndromes: an update

M Hughes, M Hao, M Luu - Current Opinion in Pediatrics, 2020 - journals.lww.com
PIK3CA vascular overgrowth syndromes: an update : Current Opinion in Pediatrics PIK3CA
vascular overgrowth syndromes: an update : Current Opinion in Pediatrics Log in or Register …

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

A Ibrahim, G Kirby, C Hardy, RP Dias, L Tee, D Lim… - Clinical …, 2014 - Springer
Abstract Background Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth
disorder with variable expressivity and a predisposition to tumorigenesis, results from …

[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 …

Sonographic screening for Wilms tumor in children with CLOVES syndrome

CM Peterman, RD Fevurly, AI Alomari… - Pediatric blood & …, 2017 - Wiley Online Library
Background CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and
characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi …

Association of adrenocortical carcinoma with familial cancer susceptibility syndromes

T Else - Molecular and cellular endocrinology, 2012 - Elsevier
Our knowledge about inherited susceptibility to adrenocortical carcinoma (ACC) almost
exclusively stems from experiences with familial cancer susceptibility syndromes, which are …