Renal Tumors Flashcards
5 syndromes associated with Wilm’s tumor?
WAGR syndrome Denys-Drash syndrome Beckwith-Wiedemann syndrome Perlman syndrome Sotos syndrome Simpson-Golabi-Behmel PTCH1 deletion Bloom syndrome LFS Fanconi anemia T18
What translocation common in pediatric RCC?
TEF3 gene on X chromosome
What is the most common chromosomal abnormalities in rhabdomyosarcoma tumor of the kidney?
Deletion or mutations of SMARCB1/INI1 gene
Three classic histologic components in WIlms
Epithelial - glomeruli + tubules
Blastema - undifferentiated small round blue cells
Stroma
Name three low-risk renal tumours
Metanephric adenoma
Angiomyolipoma
Congenital mesoblastic nephroma
Cystic nephroma
What translocation is involved in RCC?
Xp11.2 translocation / TFE gene fusion (accounts for 20-40% of RCC in children, but only up to 1.6% of adult RCC)
five genetic alterations associated with Wilms tumour
WT1 deletion or mutation WT2 WTX P53 (assoc with anaplasia) LOH at 1p and 16q PTCH1 DICER1 MYC-N
Intralobar nephrogenic rests are associated with what syndromes?
WT1 syncromes - Denys-Drash, WAGR (11p13)
Perilobar nephrogenici rests are associated with what syndromes?
Overgrowth syndromes - Beckwith-Wiedemann syndrome (11p15), Perlman, hemi-hypertrophy
What features are associated with local recurrence of congenital mesoblastic nephroma?
- cellular histology subtype
- stage 3 disease
- age 3 months or older at diagnosis
(this group may benefit from additional chemo)
Prognostic features of Wilms
Size
Age at diagnosis
Histologic features (anaplasia)
Molecular features (LOH 1p and 16q, 1q gain)
Presence of nephrogenic rests in contralateral kidney (increased risk of recurrence)
Bilateral disease
Stage of disease
What is stage four Wilms?
Hematogeous metastases (lung, liver, bone, brain), LN mets outside the abdomen
What is stage 5 Wilms?
bilateral
6 drugs active in Wilms tumour
Vincristine Dactinomycin Doxorubicin Cyclophosphamide Etoposide Carboplatin
