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

More general terms

• embryonal neoplasm
• malignant kidney neoplasm (kidney cancer)

Additional terms

• chromosomal deletion 11p13 (Wilm's tumor)
• Wilms tumor gene, WAGR gene or wt1

Database

• OMIM: https://mirror.omim.org/entry/194070
• OMIM: https://mirror.omim.org/entry/607102
• OMIM: https://mirror.omim.org/entry/605982
• OMIM: https://mirror.omim.org/entry/194090
• OMIM: https://mirror.omim.org/entry/601363
• OMIM: https://mirror.omim.org/entry/601583