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Heather Borders, MD
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Wilms Tumor - Multifocal

Case Detail

Anatomy: Genitourinary
Joseph Junewick, MD FACR
Diagnostic Category: Neoplasia Malignant
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: CT
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4 year old male with abdominal pain.

Case Images


Multifocal Wilms Tumor


CT – Axial and multiplanar reformatted images of the abdomen show multiple left intrarenal masses of varying sizes with perirenal rupture and/or hemorrhage. No renal vein invasion, adenopathy or distant metastatic disease.


Bilateral and multifocal Wilms tumors may have a genetic predisposition. At least 10 genes have been associated with Wilms tumor. WT1 gene is located on the short arm of chromosome 11 (11p13). WT1 encodes a zinc finger transcription factor that is critical to normal development of the kidneys and gonads but also acts as a tumor suppressor. The WT1 protein likely affects cell growth, differentiation, and/or apoptosis. Germline mutations in WT1 have been found in about 2% of phenotypically normal children with Wilms tumor. Germline WT1 mutations in children with Wilms tumor does not necessarily confer a poor prognosis. The offspring of those with germline mutation in WT1 may also be at increased risk of developing Wilms tumor. WT1 mutation is more common in those children with Wilms tumor and one of the following: WAGR syndrome, Denys-Drash syndrome, or sporadic aniridia. Genitourinary anomalies, including hypospadias and cryptorchidism. Bilateral Wilms tumor. Unilateral Wilms tumor with nephrogenic rests in the contralateral kidney.


Ruteshouser EC, Robinson SM, Huff V. Wilms tumor genetics: Mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors. Genes Chromosomes and Cancer (2008); 47(6):461-470.

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