Wilms tumor

Wilms tumour, also known as nephroblastoma, is a malignant paediatric renal tumour.

Epidemiology

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

Clinical presentation is typically with an 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 patients¹ and acquired von Willebrand disease is seen in 8% ². 

Associations

Although most cases are sporadic and only 2% of cases are familial, a number of associations are recognised ^{1, 2}:

• overgrowth syndromes:
  • Beckwith-Wiedemann syndrome
  • Perlman syndrome
  • Simpson-Golabi-Behmel syndrome
  • Sotos syndrome
• non-overgrowth syndromes:
  • WAGR syndrome
  • Drash syndrome
• isolated abnormalities:
  • cryptorchidism: 3%
  • hemihypertrophy: 3%
  • hypospadias: 2%
  • sporadic aniridia
  • renal fusion

Risk factors

• nephroblastomatosis

Pathology

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 other loci on chromosomes 1, 8 and 12 ¹.

On gross inspection, these tumours are usually well circumscribed or macrolobulated. Haemorrhage and central necrosis are common findings ¹⁰. 

Radiographic features

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.

Plain filmradiograph

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

Ultrasound is a very useful examination and in so far as it canalmost every situation will be the primary investigation of choice. It is helpful to localise the mass to kidney and also distinguish between a cystic massfrom other causes of renal masses (e.g. hydronephrosis) and a solid mass. 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.

CT

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.

MRI

Where MRI is probablyavailable 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, but typically are:. 

• T1: hypointense
• T1 C+ (Gd): heterogeneous enhancement
• T2: hyperintense

Nuclear medicine

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 down-stagedownstage 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

Differential diagnosis

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 indisinguishableindistinguishable 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
• angiomyolipoma
• 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