What is angiomyolipoma?
Hamartoma comprised of blood vessels, smooth muscles and adipose tissue
What condition is angiomyolipoma associated with?
Increased frequency in tuberous sclerosis
What is renal cell carcinoma?
Malignant epithelial tumor arising from kidney tubules
What is the classic triad of renal cell carcinoma?
Hematuria
Palpable mass
Flank pain
What is the MC of the triad symptoms of renal cell carcinoma?
Hematuria
All three symptoms rarely occur together
How can renal cell carcinoma cause left-sided varicocele?
Involvement of the left renal vein by carcinoma blocks drainage of the left spermatic vein leading to varicocele
Right spermatic vein drains directly into the IVC; hence, R-sided varicocele is not seen
What is seen on the gross and microscopic exam of renal cell carcinoma?
Gross - yellow mass
Microscopic - clear cytoplasm
What is the pathogenesis of renal cell carcinoma?
Loss of VHL (3p) tumor suppressor gene, which leads to increased IGF-1 (promotes growth) and increased HIF TF (increases VEGF and PDGF)
How do sporadic renal cell carcinomas arise?
Sporadic tumors are in adult males (Avg age = 60) as a single tumor in the upper pole of the kidney
Major risk factor = smoking
How do genetic renal cell carcinomas arise?
Arise in younger adults and are often bilateral
What genetic disease is often asociated with hereditary renal cell carcinomas?
Von Hippel-Lindau
This autosomal dominant disorder is associated with inactivation of the VHL gene leading to increased risk for hemangioblastoma of the cerebellum and renal cell caricnoma
What is Wilms tumor?
Malignant kdiney tumor comprised of blastema (immature kidney mesenchyme), primitive glomeruli and stromal cells
MC malignant renal tumor in children (avg age = 3)
Clinical presentations of Wilms tumor
Large, unilateral flank mass with hematuria and HTN (due to renin secretion)
What mutation si associated with Wilms tumor, particularly in syndromic cases?
WT1 mutation
What is WAGR syndrome?
Wilms tumor
Aniridia
Genital abnormalities
mental and motor Retardation
What is Beckwith-Wiedemann syndrome?
Wilms tumor
Neonatal hypoglycemia
Muscular hemihypertrophy
Organomegaly
