additional renal tumour

Question 1

what syndromes are associated with an increased risk of developing wilms tumour?

Answer 1

Denys-Drash- >90% (mutation in WT1 gene)
Perlman syndrome 33%
WAGR 30% 
Beckwith-Wiedemann 5%
Isolated hemihypertrophy 5%
Fanconi 20%

Question 2

what screening for wilms tumour should be done in patients with pre-disposition syndromes?

Answer 2

those with BW have abdominal US every 3 months until age 8, should also test alphaFP
WAGR and Denys-Drash should have AUS every 3 months until 5yrs old, but should extend the screening if nephrogenic rests are seen

Question 3

what somatic mutations are found in wilms tumour?

Answer 3

WT1
WT2
WTX

Question 4

describe WAGR syndrome

Answer 4

wilms tumour, aniridia (absence of the iris), GU malformations and mental retardation

mutation in WT1 gene

Question 5

describe denys drash

Answer 5

ambiguous genitalia, mesangial sclerosis (early renal failure) 90% chance of wilms
WT1 gene mutated

Question 6

what additional staging information is needed for patients with Clear cell sarcoma or rhabdoid tumour of the kidney?

Answer 6

should have bone scan, MRI brain

bilateral bone marrow biopsies for clear cell sarcoma of the kidney

Question 7

what are the 3 components of wilms tumour on pathology?

Answer 7

persistent blastema
dysplastic tubules
mesenchyme/stroma

Question 8

In what instances would you consider delaying upfront surgery in wilms tumour?

Answer 8

synchronous bilateral wilms
wilms tumour in a solitary kidney
extension of thrombus in IVC above the level of the hepatic vein
pulmonary compromise

Question 9

for upfront surgical resection of wilms, should lymph nodes be sampled? should the contralateral kidney examined?

Answer 9

in all cases should sample from perihilar and para-aortic regions. Any abnormal LN should also be sampled
Should not examine the contralateral kidney if adequate imaging has been obtained

Question 10

which patients require flank RT for treatment of wilms tumour?

Answer 10

stage III FH

stages 1-III anaplastic

Question 11

what are the 2 types of congenital mesoblastic nephroma?

Answer 11

1-classic-similar to infantile fibromatosis

2-cellular similar to infantile fibrosarcoma has the t12;15

Question 12

what pediatric renal tumour is associated with a BCOR mutation?

Answer 12

Clear cell sarcoma of the kidney