Wilms Tumour
Oncology Dx
Tumour predisposition
Accounts for 95% paediatric renal tumours
5% of all paediatric oncology
⅔ diagnosed <5y, 95% by 10y
98% sporadic
2% familial
90% isolated
10% as part of a syndrome
Associated conditions
Presentation
NB Care must be taken when palpating abdominal masses. Vigourous palpation can rupture capsule and spill tumour cells, increasing stage and intensity of therapy
Ix
Renal US to differentiate tumour/ hydronephrosis / polycystic kidneys
MRI to stage including looking at other kidney for tumour/rests
Dopple US once tumour confirmed to evaluate for renal vein involvement
CXR to look for lung mets (or CT)
UA for protein (Denys Drash)
LFTs (liver mets)
serum Ca (high in DDx of rhabdoid tumor or congenital mesoblastic nephroma
Coags screen preop
Dx: biopsy at time of surgical excision
Staging
Tumour predisposition
Accounts for 95% paediatric renal tumours
5% of all paediatric oncology
⅔ diagnosed <5y, 95% by 10y
98% sporadic
2% familial
90% isolated
10% as part of a syndrome
Associated conditions
- WAGR (Wilms tumor (57%), Aniridia (98%), Genitourinary anom (76%), and intellectual disability (mental Retardation) (72%)
- WT1 gene deletion (11p13): involved in renal and gonadal development
- Genital anom: cryptorchidism, ambiguous genitalia...
- screening US q3m until 5y
- Denys-Drash: renal disease, male pseudohermaphroditism, and Wilms tumor (90%)
- WT1 gene point mutation at 8th or 9th exon
- Renal: mesangial sclerosis: proteinuria > nephrotic syndrome > ESRF
- screening US q3m until 5y
- Beckwith-Wiedemann: macrosomia, macroglossia, omphalocele, prominent eyes, ear creases, large kidneys, pancreatic hyperplasia, and hemihypertrophy, Wilms (10%)
- microduplication mutations in the 11p15.5 region
- screening US q3m until 8y
- Perlman syndrome: fetal gigantism, visceromegaly, unusual face, bilateral renal hamartomas with nephroblastomatosis, and Wilms tumor
- AR germline mutation of DIS3L2
- Sotos syndrome: overgrowth syndrome associated with facial, extremity, and cognitive abnormalities, Wilms tumor (2%)
- Isolated hemihypertrophy: Wilms tumor (3%)
- Familial (rare)
- BRCA2 or TP53 (Li-Fraumeni syndrome)
- screening US q3m until 8y
Presentation
- abdominal mass or swelling
- abdominal pain (30%)
- haematuria (25%)
- fever
- hypertension (25%)
- subcapsular haemorrhage
- Lung , liver, bone, brain metastasis
- asymptomatically in screening of high risk i.e. above associations / families
NB Care must be taken when palpating abdominal masses. Vigourous palpation can rupture capsule and spill tumour cells, increasing stage and intensity of therapy
Ix
Renal US to differentiate tumour/ hydronephrosis / polycystic kidneys
MRI to stage including looking at other kidney for tumour/rests
Dopple US once tumour confirmed to evaluate for renal vein involvement
CXR to look for lung mets (or CT)
UA for protein (Denys Drash)
LFTs (liver mets)
serum Ca (high in DDx of rhabdoid tumor or congenital mesoblastic nephroma
Coags screen preop
Dx: biopsy at time of surgical excision
- timing of surg varies from pre to post chemo
Staging
- I: tumour isolated to kidney
- II: local spread but complete excision
- III: incomplete excision inc spillage but isolated to abdomen
- IV: haematogenous mets (Lung , liver, bone, brain metastasis, extra abdominal LNs)
- V: bilateral Wilms