© 2018, GENASSIST, Inc. 

By Keith S. Wexler, MBA, CFO, CIO Maternal Fetal Medicine, Prenatal Diagnosis and Biotech Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital                  

Most Wilms Tumors (nephroblastoma) are sporadic. 

Approximately 5% occur as part of a syndrome.

Some Wilms Tumors can occur in patients (families) with BRCA1 or BRCA2 deleterious mutations.

Hemihypertrophy (body growth greater one side versus the other) due to Beckwith-Wiedemann Syndrome is associated with an increased risk for Wilms Tumor, usually before 12 years of age.

Wilms Tumor can occur as part of a syndrome including aniridia (absence of eye color), genital abnormalities, mental retardation (WAGR Syndrome) and often hemihypertrophy.

This is believed due to a contiguous gene syndrome due to a deletion in the 11p13-15 region of chromosome #11. Testing for Wilms Tumor (WT1) is available.

It may also be due to deletions of the 11p region due to isodisomy of chromosome #11 with loss of the maternal allele or translocation.

Studies of the patient with the Wilms Tumor is most informative. 

Blood leukocyte karyotype studies of the individual at risk is probably worthwhile and WT1 studies in relatives of patients with a “syndrome” is probably worthwhile.