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Familial Wilms Tumor and Related Syndromes
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
WT (or nephroblastoma as the currently preferred term) has been shown to form part of clinical phenotypes of nearly 50 conditions. Conditions associated with a high risk (>20%) for WT include WT1 deletions (e.g., WAGR syndrome), truncating and pathogenic missense WT1 mutations (e.g., DDS), familial WT, Perlman syndrome, mosaic variegated aneuploidy, and Fanconi anemia D1/biallelic BRCA2 mutations; conditions associated with a moderate risk (5%–20%) for WT comprise WT1 intron 9 splice mutations (Frasier syndrome [FS]), BWS (due to 11p15 uniparental disomy, isolated H19 hypermethylation), Simpson−Golabi−Behmel syndrome (due to GPC3 mutations/deletions); conditions associated with a low risk (<5%) for WT are isolated hemihypertrophy (individuals with hemihypertrophy due to 11p15 uniparental disomy or isolated H19 hypermethylation are at moderate risk), Bloom syndrome, Li−Fraumeni syndrome/Li−Fraumeni-like syndrome, hereditary hyperparathyroidism−jaw tumor syndrome, Mulibrey nanism, trisomy 18, trisomy 13, and 2q37 deletions [1,3].
Rare Mendelian cancer syndromes and other cancers
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
In addition, Wilms tumour may occur as part of several conditions including WAGR syndrome (Wilms tumour with aniridia, genital defects and mental retardation), Denys-Drash syndrome and Frasier syndrome. All of these are associated with mutations involving the WT1 gene on chromosome 11, as well as with hemihypertrophy and Beckwith-Wiedemann syndrome. Cases of familial but non-syndromal Wilms tumour have also been described, which may be related to alterations of chromosome 11p15.5 rather than WT1. Mutation in DICER1 can cause complex phenotypes that also include Wilms tumour.
Oncology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Gill A. Levitt, Penelope Brock, Tanzina Chowdhury, Mark Gaze, Darren Hargrave, Judith Kingston, Antony Michalski, Olga Slater
The molecular pathology of WT is complex, with the involvement of several genes in initiation and progression, as well as disruption of normal genomic imprinting on the short arm of chromosome 11(11p). WT is usually diagnosed in healthy children. However 5% of tumours occur in children with a predisposition genetic syndrome as listed below: Constitutional WT1 disorders (Fig. 12.1): ‘WAGR’ (Wilms’ tumour,Aniridia,Genitourinary malformations,GrowthRetardation) syndrome.Denys–Drash syndrome.Frasier syndrome.Overgrowth syndromes: Beckwith–Wiedemann syndrome (associated with changes at region of chromosome 11p 15.5).Simpson–Golabi–Behmel syndrome (X-linked inheritance).Hemihypertrophy (low risk).Perlman syndrome.
Contribution of Electron Microscopy to the Clinicopathologic Diagnosis in Childhood Glomerular Renal Diseases
Published in Fetal and Pediatric Pathology, 2019
Secil Arslansoyu Camlar, Mehtat Ünlü, Alper Soylu, Duygu Karaca, Sulen Sarioglu, Salih Kavukcu
EM provides additional information for other renal diseases that were not represented in our trial. Kidney transplant biopsies were not included in our study, but EM is important to distinguish transplant glomerulopathy from recurrent or de novo glomerulonephritis in patients developing proteinuria after transplantation [18]. Diagnosis of newly described C1q nephropathy depends on the demonstration of mesangial and subendothelial electron dense deposits by EM [11]. Some studies suggest that EM can provide key information in lupus nephritis [19]. EM can show thickening of GBM before the clinical signs of diabetic kidney disease [20]. EM shows widespread thinning and lamellation of the GBM that mimics Alport’s disease in the Frasier syndrome [21]. The diagnosis of Fabry disease is made by ultrastructural examination of renal biopsy that documents typical inclusion bodies in the cytoplasm with concentric lamellation and a zebra or onion skin appearance [22]. Several new glomerular diseases and variants have been described in the past 25 years. EM is considered essential for the diagnosis of HIV-related glomerulopathy, hemolytic uremic syndrome, cryoglobulinemia, amyloidosis, nonamyloid fibrillary and immunotactoid glomerulopathies, and IgG4-related kidney disease [9, 20, 22–24].
Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome.
Published in Fetal and Pediatric Pathology, 2021
A. B. Karmila, Y. C. Yap, M. Appadurai, L. Oh, M. Fazarina, F. Abd Ghani, H. Ariffin
The classical triad of nephropathy, pseudohermaphroditism and Wilms’ Tumor (WT) is known as Denys-Drash Syndrome (DDS) (OMIM 194080) and results from mutations in exon 8 or 9 of the WT1 gene. A similar condition, described as Frasier Syndrome (FS) (OMIM 136680), is due to a mutation in intron 9 of WT1. FS consists of XY females with gonadal dysgenesis and glomerulopathy. The prevalence of DDS is unknown but 150 cases have been described thus far.