Renal disease in a child: Nephroblastoma (Wilm’s tumour) Flashcards
Define nephroblastoma.
Wilms’ tumour, or nephroblastoma, is the most common form of renal malignancy in childhood. It usually occurs in the first 2 to 5 years of life. Approximately 500 children and adolescents <20 years of age are diagnosed each year in the US.
The risk for developing Wilms’ tumour is increased in certain congenital overgrowth syndromes, congenital nonovergrowth syndromes, and children with congenital urogenital anomalies. Long-term survival approaches 90% in localised disease.
Explain the aetiology of nephroblastoma.
Wilms’ tumour is a genetically heterogeneous neoplasm. It may be inherited or occur sporadically.
Genetic studies have identified candidate tumour suppressor genes that are known to play an important role in the normal development of the urogenital tract, for example the WT1 gene at the 11p13 locus, and the WT2 gene at the 11p15 locus. Inactivation of these genes appears to be an early genetic event in the evolution of Wilms’ tumour. Loss of heterozygosity (LOH) at 1p and 16q is thought to be a secondary event that ultimately results in Wilms’ tumour formation
Summarise the epidemiology of nephroblastoma.
Over 80% of patients present before 5 years of age and it is very rarely seen after 10 years of age. Equal incidence in both genders and among black and white children.
What are the signs and symptoms of nephroblastoma?
The tumour most commonly presents as a painless, unilateral upper abdominal/flank mass.
Common: Abdominal mass, haematuria.
Less common: Abdominal pain, anorexia, anaemia, hypertension
What are appropriate investigations for nephroblastoma?
Ultrasound and/or CT/MRI is usually characteristic, showing an intrinsic renal mass distorting the normal structure.
FBC, renal function, LFTs, urinalysis, serum total protein/albumin, coagulation studies, serum calcium level, abdominal USS with dopler, CXR, biopsy.
Consider: genetic studies.
What is the management for nephroblastoma?
In the UK, children receive initial chemotherapy followed by delayed nephrectomy, after which the tumour is staged histologically and subsequent treatment is planned according to the surgical and pathological findings. Radiotherapy is restricted to those with more advanced disease.
Around 5% of patients have bilateral disease at diagnosis and require particularly careful management in order to preserve as much renal function as possible.
What are complications associated with nephroblastoma?
Pancytopenia, anaemia, hepatoxicity, renal failure, infertility, secondary malignancies, haemorrhagic cystitis, interstitial pneuomonitis, acquired-von Willebrand disease.
What is the prognosis of nephroblastoma?
Prognosis is good, with more than 80% of all patients cured.
Cure rate for patients with metastatic disease at presentation (~15%) is over 60%, but relapse carries a poor prognosis.
