© 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.