Renal tumors

Question 1

Wilms tumor - % syndromic - associated syndromes and risk

Answer 1

• 10% Overgrowth related: - Beckwith-Wiedemann (WT2), 10% risk - Perlman syndrome - Sotos, 2-3% risk - Simpson-Golahbi-Behmel, 7.5% risk - 9q22 microdeletion (PTCH1 deletion) - isolated hemihyperplasia - CLOVES Non-overgrowth: - WAGR (15% risk), - Denys-DrashFrasier (90% risk) WT1 - Bloom - LiFraumeni -FA - Trisomy 18

Question 2

List a differential diagnosis for renal tumors

Answer 2

Wilms tumor (nephroblastoma) Renal cell carcinoma Rhabdoid tumor of the kidney Clear cell sarcoma of the kidney Nephrobastomatosis Congenital mesoblastic nephroma Renal medullary carcinoma Neuroblastoma

Question 3

RCC predisposition syndromes

Answer 3

VHL (3p26) Tuberous sclerosis Familial RCC Renal medullary carcinoma (sickle cell) Hereditary leiomyomatosis

Question 4

Nephroblastomatosis surveillance

Answer 4

serial US till age 8-10

Question 5

Congenital mesoblastic nephroma translocation

Answer 5

t(12;15)

Question 6

RCC translocation gene

Answer 6

TFE3

Question 7

Rhabdoid tumor mutations and staining

Answer 7

SMARB1/SMARCA4

INI expression is lacking

Question 8

Key points for clear cell sarcoma of kidney

Answer 8

2nd most common peds renal tumor

Propensity to metastasize - brain is most common site

Associated with BCOR mutations

All stages get Doxo and Rads

Very poor outcome for advanced stage

Question 9

Prognostic features for Wilm’s tumor

Answer 9

1. Age (adolescents do worse)
2. Stage
3. Size (<550g in <24m FH Stage 1 can get surgery alone)
4. Histology - FH vs anaplasia
5. Molecular - LOH of 1p/16q and gain of 1q

Question 10

What determines whole lung rads in Stage IV Wilms?

Answer 10

Response of lung nodules to chemo at 6weeks. - omit if CR

Question 11

Which CMN patients may benefit from chemotherapy?

Answer 11

Stage III, cellular histology, older than 3 months at diagnosis