Regarding the genetic and syndromic associations of Wilms tumor, all of the following are true EXCEPT:

Question

Accepted Answer

A. Trisomy 21 is a well-established syndromic risk factor for Wilms tumor development, with relative risk >100. ## Syndromic Associations of Wilms Tumor

### Established Syndromes with Increased Risk

| Syndrome | Genetic Basis | Features | Relative Risk |
| --- | --- | --- | --- |
| WAGR | WT1 deletion (11p13) | Aniridia, GU anomalies, intellectual disability | 1 in 50 |
| Beckwith-Wiedemann | H19/IGF2 imprinting defect (11p15) | Macrosomia, hemihypertrophy, exomphalos | 1 in 1000 |
| Denys-Drash | WT1 zinc finger mutation | 46,XY gonadal dysgenesis, progressive nephropathy | ~90% |
| Hemihypertrophy | Sporadic or syndromic | Unilateral overgrowth | Modest increase |

**Key Point:** Trisomy 21 (Down syndrome) does NOT have a significantly elevated risk for Wilms tumor. While children with Down syndrome have increased risk for other malignancies (ALL, AML), Wilms tumor is not a recognized association. The relative risk is not >100 and is not a classic syndromic association.

**High-Yield:** The three major syndromic associations to memorize are WAGR, Beckwith-Wiedemann, and Denys-Drash — all involve chromosome 11p abnormalities or imprinting defects.

**Clinical Pearl:** Hemihypertrophy (asymmetric body growth) warrants ultrasound screening for Wilms tumor every 3 months until age 7, even without syndromic diagnosis.

Answer

B. WT1 gene mutations are associated with WAGR syndrome (Wilms, Aniridia, Genitourinary anomalies, Retardation)

Answer

C. Denys-Drash syndrome presents with 46,XY gonadal dysgenesis and WT1 mutations affecting the zinc finger domain

Answer

D. Beckwith-Wiedemann syndrome is associated with loss of imprinting of the H19/IGF2 locus on chromosome 11p15

Regarding the genetic and syndromic associations of Wilms tumor, all of the following are true EXCEPT:

Explanation

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