Children with a significantly increased predisposition to develop Wilms tumor (e.g., most children with Beckwith-Wiedemann syndrome, WAGR syndrome, Denys-Drash syndrome, idiopathic hemihypertrophy, or sporadic aniridia) should be screened with ultrasound every 3 months at least until they reach age 8 years. Approximately 10% of patients with Beckwith-Wiedemann syndrome will develop a malignancy, with either Wilms tumor or hepatoblastoma being the most common, although adrenal tumors can also occur. Children with hemihypertrophy 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, most hepatoblastomas will have occurred, and imaging may be limited to renal ultrasound, which is quicker and does not require the child to fast for the exam.
- Bonaïti-Pellié C, Chompret A, Tournade MF, et al.: Genetics and epidemiology of Wilms' tumor: the French Wilms' tumor study. Med Pediatr Oncol 20 (4): 284-91, 1992.
- Li FP, Williams WR, Gimbrere K, et al.: Heritable fraction of unilateral Wilms tumor. Pediatrics 81 (1): 147-9, 1988.
- Ruteshouser EC, Huff V: Familial Wilms tumor. Am J Med Genet C Semin Med Genet 129 (1): 29-34, 2004.
- Paulino AC, Thakkar B, Henderson WG: Metachronous bilateral Wilms' tumor: the importance of time interval to the development of a second tumor. Cancer 82 (2): 415-20, 1998.
- Coppes MJ, Arnold M, Beckwith JB, et al.: Factors affecting the risk of contralateral Wilms tumor development: a report from the National Wilms Tumor Study Group. Cancer 85 (7): 1616-25, 1999.
Individuals with a clinical or suspected diagnosis of Wilms tumor.
Analytical Sensitivity: ~99%.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 60 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Hereditary Cancer Syndrome: Sequencing Panel
- Wilms Tumor: Deletion/Duplication Panel