WAGR Syndrome Workup

  • Author: Steven K Bergstrom, MD; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: May 9, 2011
 

Laboratory Studies

  • BUN and/or creatinine levels should be assessed in patients with Wilms tumor, aniridia, GU abnormalities, and mental retardation (WAGR) syndrome.
    • Renal function is rarely affected by nephroblastomatosis alone.
    • GU abnormalities may lead to reduced renal function early in life.
  • Findings of protein in the urine should alert the clinician to the possibility of Denys-Drash or Frasier syndromes, which are associated with declining renal function. Blood may be present in the urine when patients present with a Wilms tumor.
  • A CBC count with a platelet count may demonstrate anemia due to blood loss secondary to an enlarging renal mass.
  • Serum calcium levels should be measured.
  • Cytogenetic testing should be performed to confirm the diagnosis. Standard high-resolution chromosome studies may not be able to detect deletions in WT1. The addition of molecular cytogenetic fluorescence in situ hybridization techniques may define the extent of the deletion.
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Imaging Studies

  • Renal ultrasonography is the study of choice to confirm the diagnosis of renal pathology in the neonatal period.
    • Enlargement of the kidneys usually suggests nephroblastomatosis. The appearance of both kidneys should be documented.
    • Some (internal) GU abnormalities are usually best documented using ultrasonography, although additional imaging tests may be required.
    • A follow-up examination of the kidneys should be performed every 3 months until the patient is aged 7 years. Physical examinations should be performed every 6 months until the patient's growth is complete. Baseline CT scanning may be indicated at the time of the initial diagnosis.
    • The presence of an enlarging renal mass suggests the development of a Wilms tumor.
    • Evaluation of the renal vein and inferior vena cava for the presence of tumor thrombi is important for staging, and the study is usually accomplished using renal ultrasonography and/or Doppler imaging.
  • Chest radiography becomes important in the staging workup once Wilms tumor is diagnosed.
  • CT scanning of the chest and abdomen may provide further information about the location and stage of the tumor.
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Procedures

  • The role of a renal biopsy at the time of diagnosis of WAGR syndrome in the neonatal period is controversial.
  • The presence of nephrogenic rests can be demonstrated histologically, but the risk of losing renal function as a result of the procedure may outweigh the need to confirm the diagnosis in a patient with AGR syndrome.
  • Transcutaneous renal biopsy has no role in the diagnosis of a Wilms tumor.
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Histologic Findings

  • Biopsy findings of kidneys that contain nephrogenic rests or nephroblastomatosis reveal nests of developmentally immature renal parenchyma.
  • Although these rests may be stable over a long period, they generally (1) die and produce a hyalinized remnant, (2) mature into normal renal parenchyma, or (3) produce a Wilms tumor.
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Contributor Information and Disclosures
Author

Steven K Bergstrom, MD  Assistant to the Chairman, Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland

Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and International Society for Experimental Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Stephan A Grupp, MD, PhD  Director, Stem Cell Biology Program, Department of Pediatrics, Division of Oncology, Children's Hospital of Philadelphia; Associate Professor of Pediatrics, University of Pennsylvania School of Medicine

Stephan A Grupp, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Timothy P Cripe, MD, PhD  Professor of Pediatrics, Division of Hematology/Oncology, Cincinnati Children's Hospital Medical Center; Clinical Director, Musculoskeletal Tumor Program, Co-Medical Director, Office for Clinical and Translational Research, Cincinnati Children's Hospital Medical Center; Director of Pilot and Collaborative Clinical and Translational Studies Core, Center for Clinical and Translational Science and Training, University of Cincinnati College of Medicine

Timothy P Cripe, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Helen SL Chan, MBBS, FRCP(C), FAAP  Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada

Helen SL Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA  Senior Vice President, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University School of Medicine; Clinical Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

References

  1. Han JC, Liu QR, Jones M, Levinn RL, Menzie CM, Jefferson-George KS, et al. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med. Aug 2008;359:918-927. [Medline].

  2. D'Angio GJ, Breslow N, Beckwith JB, et al. Treatment of Wilms' tumor. Results of the Third National Wilms' Tumor Study. Cancer. Jul 15 1989;64(2):349-60. [Medline].

  3. Breslow N, Olshan A Beckwith JB. Epidemiology of Wilms tumor. Med Ped Oncol. 1993;21:172-181.

  4. Robinson DO, Howarth RJ, Williamson KA, van Hyningen V, Beal SJ, Crolla JA. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. Mar 2008;164A:558-569. [Medline].

  5. Termine C, Parigi G, Rossi M, Romano P, Balotin U. WAGR syndrome: is the 'R' always justified?. Clin Dysmorphol. Jan 2007;16:69-70. [Medline].

  6. Knudson AG, Strong LC. Mutation and cancer: a model for Wilms tumor of the kidney. J Natl Cancer Inst. Feb 1972;48:313-324.

  7. Call KM, Glaser T, Ito CY. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. Cell. Feb 1990;60:509-520.

  8. Ton CCT, Hirvonen H, Miwa H. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 1991;67:1059-1074.

  9. Haber DA,. Oshn RL, Buckler AJ. Alternative splicing and alternative structure of the Wilms tumor gene WT1. Proc Natl Acad Sci USA. 1991;88:9618-9622.

  10. Beckwith JB. Precursor lesions of Wilms tumor: clinical and biological impications. Med Pediatr Oncol. 1993;21:158-168.

  11. Fischbach BV, Trout KL, Lewis J. WAGR syndrome: A clinical review of 54 cases. Pediatrics. Oct 2005;116:984-988.

  12. Dahan K, Kamal M, Noel LH, Jeanpierre C, Gubler MC, Brousse N, et al. Small glomeruli in WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome. Am J Kidney Dis. June 2007;49:522-527.

  13. Hamilton TE, Ritchey ML, Haase GM, Argani P, Peterson SM, Anderson JR, et al. The management of synchronous bilateral wilms tumor: a report from the national wilms tumor study group. Ann Surg. May 2011;253(5):1004-10. [Medline].

 
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Subjects were categorized as BDNF haploinsufficient by comparative genomic hybridization. Subject A has a large deletion on chromosome 11 that removes one copy of the BDNF gene. Subject B has a smaller deletion that does not remove BDNF.
 
 
 
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