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Home > Professional Reference > Wilms' Tumour

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Wilms' Tumour

This PatientPlus article is written for healthcare professionals so the language may be more technical than the condition leaflets. You may find the abbreviations list helpful.

Synonym: Nephroblastoma

This is the commonest intra-abdominal tumour of childhood (20% of all childhood malignancies). It is an undifferentiated mesodermal tumour of the intermediate cell mass (primitive renal tubules and mesenchymal cells). It may be sporadic, or familial.

Associations1

Wilms' tumor usually develops in otherwise healthy children, but approximately 10% occur in children with recognised malformations; either:

  • 'Overgrowth syndromes' (excessive prenatal and postnatal somatic growth resulting in macroglossia, nephromegaly, and hemihypertrophy) - most commonly Beckwith-Wiedemann syndrome or isolated hemihypertrophy. Others include Perlman syndrome, Sotos syndrome, and Simpson-Golabi-Behemel syndrome.
  • No 'overgrowth' - associated with with trisomy 18, Bloom syndrome, Denys-Drash syndrome; or Wilms' with Aniridia, Gonadoblastoma (GU malformations), and Retardation ('WAGR'*).

Familial Wilms' tumour2

Hereditary Wilms' tumour (either bilateral tumours or a family history of the neoplasm) is uncommon. Several different families with Wilms' tumours have been identified. All are transmitted in an autosomal dominant manner, caused by mutations in one of at least 3 genes:

  • One related to the WT1 gene on chromosome 11 (11p13) - (includes those patients with WAGR) encodes a protein which is a transcriptional repressor downregulating IGF-II, an insulin-like growth factor.3
  • Other families (including those with Beckwith-Wiedemann syndrome) have a different mutation - of the WT2 gene on chromosome 11 (11p15.5)
  • Other gene mutations, thought to be on chromosome 16 (WT3 - 16q) and/or chromosome 1p can also cause the tumour.4

Presentation

The median age is 3 years.5 95% are unilateral. Only 1-2% have a positive family history.6

Clinical features7

Fever, flank pain, abdominal mass. Haematuria is not common.

Investigations7

  • Useful laboratory tests include full blood count, urea and electrolytes and urinalysis.
  • Genetic studies may reveal the chromosome abnormalities consistent with the condition.
  • Ultrasound and/or IVP may show renal pelvis distortion; hydronephrosis. Dynamic imaging of the renal vein and inferior vena cava may be contributory.
  • Renal angiography may help to show a more detailed view of the blood vessels.
  • Abdominal scanning may help to determine the nature of the tumour and may also reveal the degree of involvement of the lymph nodes, whether the other kidney is involved, and invasion into blood vessels or the liver.
Staging of Wilms' tumour
Stage I (43% of patients)Tumour limited to the kidney and completely excised. Renal capsule is intact.
The tumour is not ruptured before or during removal.
The vessels of the renal sinus are not involved.
There is no residual tumour apparent beyond the margins of excision.
Stage II (23% of patients)Tumour extends beyond the kidney but is completely excised. No residual tumour is apparent at or beyond the margins of excision.
There may be:
  1. Regional extension of the tumour, i.e., penetration through the outer surface of the renal capsule into the perirenal soft tissue or more than 1 to 2 mm of tumor invasion into the renal sinus.
  2. Vessels outside the kidney are infiltrated or contain tumour thrombus.
  3. The tumour was biopsied or there was local spillage of tumour confined to the flank.
Stage III (23% of patients)There is residual tumour confined to the abdomen. There may be one or more of the following:
  1. Tumour positive lymph nodes in the renal hilus, the periaortic chains, or other intra-abdominal sites on biopsy.
  2. There has been diffuse peritoneal contamination by the tumour, eg. spillage of tumour beyond the flank before or during surgery or by tumour growth penetrating through the peritoneal surface.
  3. Implants are found on the peritoneal surfaces.
  4. Tumour extends beyond the surgical margins either microscopically or grossly.
  5. Tumour is not completely resectable because of local infiltration into vital structures.
Stage IV (10% of patients)Haematogenous metastases - beyond stage III, e.g., to the lung, liver, bone, or brain.
Stage V (5% of patients)Bilateral renal involvement at initial diagnosis. Attempt to stage each side according to the above criteria on the basis of extent of disease prior to biopsy.
The 4-year survival was 94% for those patients whose most advanced lesion was stage I-II; 76% where it was stage III.

Management8

  • Renal biopsy should be avoided as this seems to make the condition worse.7
  • For most patients, nephrectomy followed by chemotherapy with vincristine and doxorubicin can be curative. Radiotherapy to the flank is beneficial in patients with a stage 3 tumour.
  • Patients with massive, nonresectable unilateral tumors, bilateral tumors, or venacaval tumor thrombus above the hepatic veins should be considered for preoperative chemotherapy because of the risk of initial surgical resection.

Prognosis7

With current treatment 80-90% of patients are still alive 4 years after diagnosis. The prime factor governing prognosis is favourable histology. The prognosis after recurrence is poor, only 30-40% surviving after retrieval therapy.

Screening

Children with a predisposition to develop Wilms' tumor (e.g., Beckwith-Wiedemann, hemihypertrophy) should be screened with ultrasound. The exact frequency of screening, the age at which screening should cease and the cost-effectiveness of this approach requires further study.9

* The WAGR syndrome is one of the best-studied 'contiguous gene syndromes' - children with WAGR invariably have a constitutional chromosomal deletion at 11p13, the location of the WT1 gene. Those with Denys-Drash syndrome (DDS) usually have a germline point mutation, which is predicted to result in an amino acid substitution (i.e., missense mutation), in the eighth or ninth exon of the Wilms tumor gene.2

Document references

  1. Clericuzio CL; Clinical phenotypes and Wilms tumor. Med Pediatr Oncol. 1993;21(3):182-7. [abstract]
  2. Wilm's Tumor; Online Mendelian Inheritance In Man - Genetic Database (OMIM) 2008.
  3. Skuse GR, Ludlow JW; Tumour suppressor genes in disease and therapy. Lancet. 1995 Apr 8;345(8954):902-6.
  4. Wilms Tumor 3; WT3; OMIM 1989.
  5. Mathew P, Douglass EC, Jones D, et al; Der(16)t(1;16)(q21;q13) in Wilms' tumor: friend or foe. Med Pediatr Oncol. 1996 Jul;27(1):3-7. [abstract]
  6. Kraemer, KH. Xeroderma Pigmentosum. In: Gene Reviews, updated May 2008. (Detailed overview of xerorderma pigmentosum.)
  7. Paulino AC, Coppes MJ; Wilms' Tumor, eMedicine, Mar 2009.
  8. Cancernet; US National Cancer Institute.Wilms' tumour.
  9. McNeil DE, Brown M, Ching A, et al; Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a cost-effective model. Med Pediatr Oncol. 2001 Oct;37(4):349-56. [abstract]

Internet and further reading

Acknowledgements

EMIS is grateful to Dr Laurence Knott for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2010.
Document ID: 2938
Document Version: 21
Document Reference: bgp408
Last Updated: 2 Nov 2008
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