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Wilm's tumor; nephroblastoma
Etiology: some cases associated with mutations in Wilms tumor 1 gene
Epidemiology:
- affects approximately 1 in 10,000 infants & young children
- occurs both in sporadic & hereditary forms
- most are sporadic
- onset between 2 and 5 years
- some associated with congenital syndromes: WAGR syndrome Wiedemann-Beckwith syndrome Denys-Drash syndrome
Pathology:
- 5-10% are bilateral
- embryonal malignancy derived from epithelium, blastema or stroma
Genetics:
- associated with defects in WT1, FAM123B (WTX) <33%>, POU6F2 (WT5)
- chromosomal translocation t(1;7)(q42;p15) PTHB1 with OBSCN found in Wilms tumor 5 (WT5)
- other imlicated genes HACE1, IGF2AS, KCNQ1DN, TRPM5
Laboratory:
Immunocytochemistry:
- vimentin: positive
- neuron specific enolase: positive
- cytokeratin: positive
Molecular diagnostics
- WT1 gene mutation
- WT1 mRNA expression in blood/tissue
Interactions
disease interactions
Related
chromosomal deletion 11p13 (Wilm's tumor)
Wilms tumor gene, WAGR gene or wt1
General
embryonal neoplasm
malignant kidney neoplasm (kidney cancer)
References
- Dabbs. Diagnostic Immunohistochemistry. Churchill-Livingstone,
2002. page 482
- UniProt :accession Q3SYG4
Databases & Images
OMIM correlations
MORBIDMAP 607102
images related to Wilm's tumor