Wilms tumour, also known as nephroblastoma, is a malignant paediatric renal tumour.
Wilms tumours are the most common paediatic renal mass, accounting for over 85% of cases 1,8 and accounts for 6% of all childhood cancers 2. It typically occurs in early childhood (1-11 years) with peak incidence between 3 and 4 years of age. Approximately 80% of these tumours are found before the age of 5 years. When part of a syndrome (see below) they occur even earlier, typically between 2 and 24 months of age 1.
There is no recognised gender predilection, however, presentation is a little later in females 2. The vast majority are unilateral with less than 5 % occurring bilaterally.
Clinical presentation is typically with a painless upper quadrant abdominal mass. Hematuria is seen in ~20% of cases 2 and pain is uncommon. On examination hypertension due to excessive renin production is found in up to 25% of patients 1 and acquired von Willebrand disease is seen in 8% 2.
Although most cases are sporadic and only 2% of cases are familial, a number of associations are recognised 1, 2:
- overgrowth syndromes (WT2 gene):
- non-overgrowth syndromes (WTI gene):
- isolated abnormalities:
The tumour typically arises from mesodermal precursors of the renal parenchyma (metanephros). Increasingly gene loci are being implicated on chromosome 11 (WT1: 11p13 and WT2: 11p15) as well as WTX on chromosome X, B-catenin on chromosome 3 or TP53 on chromosome 17 1.
On gross inspection, these tumours are usually well circumscribed or macrolobulated. Haemorrhage and central necrosis are common findings 10.
Wilms tumours are usually large heterogeneous solid masses which displace adjacent structures. Occasionally they may be mostly cystic.
Metastases are most commonly to lung (85%), liver and local lymph nodes 1. Similar to renal cell carcinoma tumour thrombus into the renal vein, IVC and right atrium are also characteristic of advanced disease. See also: Wilms tumour staging.
Abdominal x-ray typically reveals a large soft tissue opacity displacing bowel. This is only relevant if found incidentally since a radiograph should never be used for the assessment of an abdominal mass. The only exception would be a resource-poor setting where an abdominal radiograph is the only imaging modality available.
Ultrasound is a very useful examination and in almost every situation will be the primary investigation of choice. It is helpful to localise the mass to kidney and also distinguish from other causes of renal masses (e.g. hydronephrosis). Although many of the features seen on CT/MRI can also be identified on US, the former are required to adequately stage the disease, and is established in protocols for Wilms tumour staging in North America and Europe 9 .
Doppler examination can be performed to examine the renal vein and IVC to assess for the presence of tumour thrombus.
Wilms tumours are heterogeneous soft-tissue density masses with infrequent areas of calcification (~15%) 10 and fat-density regions. Enhancement is also patchy, and allows for better delineation of the relationship between the mass and kidney. 20% of cases have lung metastases at time of diagnosis.
Where MRI is available it is the investigation of choice for staging since it does not involve ionising radiation. It is also the most accurate modality in assessing for IVC involvement 1 where protocols have been optimised. These tumours appear heterogeneous on all sequences and frequently contain blood products.
- T1: hypointense
- T1 C+ (Gd): heterogeneous enhancement
- T2: hyperintense
Bone scans are not routine as the tumour metastasizes to bones very late. F-18 FDG PET/CT is increasingly used as a problem solving tool and to distinguish scar tissue from residual active tumour.
Treatment and prognosis
Unilateral Wilms tumours are, usually, treated by a combination of nephrectomy and chemotherapy. Occasionally chemotherapy can be administered prior to surgery to downstage the tumour 1. This is especially useful when tumours are bilateral.
Radiotherapy has a limited role, but may be employed in cases of peritoneal spread or incomplete resection 1.
Cure is now possible in ~90% of cases. Recurrence is seen both within the tumour bed, as well as distally within the lungs or liver 1-2.
History and etymology
This entity was popularised by Max Wilms in 1899, although prior descriptions had been published by Osler in 1814 and Birch-Hirschfeld in 1879 3-5.
- Max Wilms (1867-1918), surgeon; Heidelberg, Germany 3
- Felix Victor Bisch-Hirschfeld (1842-1899), physician; Leipzig, Germany 6
- William Osler (1849-1919), physician; Montreal, Canada 7
General imaging differential considerations include:
- neuroblastoma: see neuroblastoma vs. Wilms tumour
- multilocular cystic renal tumour: appears identical to very cystic Wilms tumour 1
- clear cell sarcoma: generally indistinguishable on the bases of imaging, but may show early skeletal metastasis, a site which is unusual for Wilms tumour
- renal rhabdoid tumour: generally, it can not be distinguished from Wilms on imaging, but the former has an established association with brain tumours, especially in the posterior fossa
- renal abscess
- childhood renal cell cancer (RCC): extremely rare in the paediatric population (outnumbered by Wilms tumours 30:1 8). It becomes more common in the second decade of life 10
- 1. Guermazi A. Imaging of kidney cancer. Springer Verlag. (2006) ISBN:3540211292. Read it at Google Books - Find it at Amazon
- 2. Graham SD, Keane TE. Glenn's Urologic Surgery. Lippincott Williams & Wilkins. (2009) ISBN:0781791413. Read it at Google Books - Find it at Amazon
- 3. Max Wilms from whonamedit.com, the dictionary of medical eponyms. Max Wilms
- 4. M. Wilms "Die Mischgescwülste. I. Die Mischgescwülste der Niere." Leipzig, A Georgi, 1899.
- 5. F. V. Birch-Hirschfeld "Sarkomatöse Drüsengeschwülste der Niere im Kindesalter (Embryonales Adenosarcom)." Beiträge zur pathologischen Anatomie und zur allgemeinen Pathologie, 1898, 24: 343-362.
- 6. Felix Victor Birch-Hirschfeld from whonamedit.com, the dictionary of medical eponyms. Felix Victor Birch-Hirschfeld
- 7. Sir William Osler, Baronet from whonamedit.com, the dictionary of medical eponyms. Sir William Osler, Baronet
- 8. Lowe LH, Isuani BH, Heller RM et-al. Pediatric renal masses: Wilms tumor and beyond. Radiographics. 20 (6): 1585-603. Radiographics (full text) - Pubmed citation
- 9. McDonald K, Duffy P, Chowdhury T et-al. Added value of abdominal cross-sectional imaging (CT or MRI) in staging of Wilms' tumours. Clin Radiol. 2013;68 (1): 16-20. doi:10.1016/j.crad.2012.05.006 - Pubmed citation
- 10. Chung EM, Graeber AR, Conran RM. Renal Tumors of Childhood: Radiologic-Pathologic Correlation Part 1. The 1st Decade: From the Radiologic Pathology Archives. Radiographics. 2016;36 (2): 499-522. doi:10.1148/rg.2016150230 - Pubmed citation