Sandbox SSW
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sargun Singh Walia M.B.B.S.[2]
Overview
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:
Overview
Overview
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.