Wilms' tumor screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Children predisposed to wilms tumor should be screened earlier. The frequency of malformations observed in patients with Wilms tumor underlines the need for genetic counseling, molecular and genetic explorations, and follow-up.

Screening

Screening Children Predisposed to Wilms Tumor

Children with a significantly increased predisposition to develop Wilms tumor (e.g., most children with Beckwith-Wiedemann syndrome or other overgrowth syndromes, WAGR syndrome, Denys-Drash syndrome, sporadic aniridia, or isolated hemihyperplasia) are usually screened with ultrasound every 3 months at least until they reach age 8 years. Early-stage, asymptomatic, small Wilms tumors may be discovered and potentially removed with renal-sparing surgery.

Tumor screening programs for each overgrowth syndrome have been suggested, based on published age and incidence of tumor type. Approximately 10% of patients with Beckwith-Wiedemann syndrome will develop a malignancy, with the most common being either Wilms tumor or hepatoblastoma, although adrenal tumors can also occur. Children with hemihyperplasia are also at risk for developing liver and adrenal tumors. Screening with abdominal ultrasound and serum alpha-fetoprotein is suggested until age 4 years. After age 4 years, most hepatoblastomas will have occurred, and imaging may be limited to renal ultrasound, which is quicker and does not require fasting before the exam.

Follow-up guidelines are available for patients with Beckwith-Wiedemann syndrome who have been molecularly subtyped.

Newborns born with sporadic aniridia should undergo molecular testing for deletion analysis of PAX 6 and WT1. If a deletion of WT1 is observed, the child should be screened with ultrasound every 3 months until age 8 years, and the parents should be educated about the need to identify and treat early Wilms tumor.

Although the risk for Wilms tumor in the children of survivors of bilateral Wilms tumor is unknown and likely varies with the gene in which the mutation occurred, some experts recommend screening such children with serial ultrasound examinations every 3 months until age 8 years.

The risk of Wilms tumor in children with Klippel-Trénaunay syndrome (a unilateral limb overgrowth syndrome) was no different than the risk in the general population when assessed using the NWTS database. Routine ultrasound surveillance is not recommended.

Genetic counseling

The frequency of malformations observed in patients with Wilms tumor underlines the need for genetic counseling, molecular and genetic explorations, and follow-up.

A French study concluded that patients need to be referred for genetic counseling if they have one of the following:

One major abnormality such as:

• Beckwith-Wiedemann symptoms (macroglossia, neonatal or postnatal macrosomia, abdominal wall defects, or visceromegaly); or

One condition such as:

• Hemihyperplasia.
• Overgrowth syndrome or mental retardation.
• Aniridia.
• Diffuse mesangial sclerosis.

Two or more minor malformations such as:

• Inguinal or umbilical hernia.
• Hypospadias.
• Renal abnormalities.
• Ectopic testis.

Simple oncological follow-up is indicated when there is no malformation or when there is only one minor malformation.

After genetic counseling takes place, a search for WT1 mutations should be considered for patients who have the following:

• Bilateral Wilms tumor.
• Familial Wilms tumor.
• Wilms tumor and age younger than 6 months.
• Genitourinary abnormality.
• Mental retardation association.

A search for an 11p15 abnormality should be considered for patients exhibiting any symptoms of Beckwith-Wiedemann syndrome, hemihyperplasia, or bilateral or familial Wilms tumor.