Wilms Tumour

WILMS TUMOUR (WT) is the fifth most common pediatric malignancy and the most common type of renal tumor in children.It can arise sporadically, can develop in association with genetic syndromes, or can be familial.

Pathogenesis & Genetics:

WAGR Syndrome
-Associated with congenital malformations

-Wilms tumour (Those with below 3 congenital malformation always assoc with wilms tumour)
-Aniridia (Congenital absence of Iris)
-Genitourinary malformations
-Retard (Mental retardation resulted from abnormal CNS development)

-Aniridia, GU malformations, and mental retardation are usually detected in the perinatal period, and patients with these conditions require careful long-term follow-up, both because of the consequences of the congenital defects and because of the potential development of a Wilms tumor.
-The deletion of varying lengths of chromosomal material along the short arm of chromosome 11 is the underlying defect, and developmental abnormalities are related to the contiguous loss of neighboring genes.


Denys-Drash Syndrome
-rare disorder
-triad of congenital nephropathy (constant feature), wilms tumour & intersex disorders (from mutation of WT1 gene)
-clinically manifests as an early onset nephrotic syndrome and progresses to renal failure during the first 3 years of life.
-Classic presentation:pure gonadal dysgenesis with male pseudohermaphroditism


Beckwith-Wiedmann Syndrome
-Originally, Professor Wiedemann coined the term EMG syndrome.

-Exomphalos (a weakness of the baby's abdominal wall where the umbilical cord joins it, leads to Omphalocele)
-Macroglossia (unusual enlargement (hypertrophy) of the tongue)
-Gigantism

Other features:
-Organomegaly
-Hemihypertrophy (Overgrowth of one side of the body)
-Adrenal Cytomegaly

Over time, this constellation was renamed Beckwith-Wiedemann syndrome (BWS).

-Region of 11p was the first identified example of imprinting in mammals (ie, the process whereby the 2 alleles of a gene are expressed differentially).

Precursor lesions???----NEPHROGENIC RESTS