Urology>>>>>Paediatric Urology
Question 6#

Which of the following is not related to increased risk of nephroblastoma?

A. Abnormality of chromosome 11 q
B. Beckwith-Wiedemann syndrome
C. Denys–Drash syndrome
D. WAGR syndrome
E. Perlman syndrome

Correct Answer is A

Comment:

Answer A

Nephroblastoma, or Wilms’ tumour, characteristically presents as a painless mass in an otherwise well pre-school child. In the UK, after staging imaging the diagnosis is made with biopsy. Treatment begins with chemotherapy, and is then followed by surgery. Further chemotherapy or radiotherapy may then follow.

The WT1 gene, predisposing to the Wilms’ tumour, lies on chromosome 11p13. Other genes predisposing to Wilms’ tumours have also been identified at 11p15 and 16q. Beckwith–Wiedemann syndrome is characterised by macroglossia, macrosomia, visceromegaly and midline abdominal wall defect such as omphalocele or exomphalos. It is associated with a significantly increased risk of developing Wilms’ tumour.

Perlman syndrome is another overgrowth syndrome associated with polyhydramnios during pregnancy, macrocephaly, macrosomia, visceromegaly and an increased risk for Wilms’ tumour. In Denys–Drash syndrome, the presence of nephropathy (mesangial sclerosis) and gonadal dysgenesis is associated with the development of Wilms’ tumour.

WAGR syndrome is characterised by increased predisposition to Wilms’ tumour, aniridia, genitourinary anomalies (typical tumours of the ovaries or testes) and ‘mental retardation’.