12.8 - Renal neoplasia

Question 1

angiomyolipomas have an increased frequency in what disease?

Answer 1

tuberous sclerosis

Question 2

renal cell carcinoma is a malignant epithelial tumor arising from what part of the nephron?

Answer 2

tubules

Question 3

what is the classic triad of RCC? which is most common?

Answer 3

• hematuria (most common)
• palpable mass
• flank pain

all 3 rarely present together

Question 4

autopsy reveals a yellow mass in the kidney and histology shows cells with clear cytoplasm - diagnosis?

Answer 4

RCC

Question 5

what is the pathogenesis of RCC?

Answer 5

• loss of VHL tumor suppressor gene

- increase in IGF-1 and HIF (and therefore VEGF, PDGF)

Question 6

VHL is located on which chromosome?

Answer 6

3

Question 7

which genes / proteins are increased as a result of loss of VHL in RCC?

Answer 7

increase in IGF-1 and HIF (and therefore VEGF, PDGF)

Question 8

what is the main risk factor for renal tumors?

Answer 8

smoking

Question 9

what is the inheritance of von hippel lindau disease?

Answer 9

AD

Question 10

what are the 2 major sites for neoplasia in von hippel lindau diseae?

Answer 10

• hemangioblastoma of the cerebellum

- RCC

Question 11

wilms tumor is a ____________ (benign / malignant) tumor comprised of _____________

Answer 11

• malignant

- blastema (immature kidney mesenchyme), primitive glomeruli and tubules, and stromal cells

Question 12

why is HTN seen in wilms tumors?

Answer 12

renin secretion

Question 13

what is the gross physical presentation of wilms tumor?

Answer 13

large, unilateral flank mass with hematuria and HTN

Question 14

what comprises WAGR syndrome? what is the cause?

Answer 14

• Wilms tumor
• Aniridia
• Genital abnormalities
• Retardation (mental, motor)
• deletion of WT1 tumor suppressor gene (11p13)

Question 15

WT1 is located on which chromosome?

Answer 15

11p13

Question 16

denys drash syndrome consists of what symptoms / conditions? what is the cause?

Answer 16

• wilms tumor, progressie renal (glomerular) disease, male pseudohermaphroditism
• associated with MUTATIONS of WT1

Question 17

what disease is due to LOSS of WT1?

Answer 17

WAGR

Question 18

what disease is due to MUTATION of WT1?

Answer 18

denys drash syndrome

Question 19

• wilms tumor, progressie renal (glomerular) disease, male pseudohermaphroditism
• associated with MUTATIONS of WT1

Answer 19

denys drash syndrome

Question 20

• wilms tumor
• neonatal hypoglycemia
• muscular hemihypertrophy
• organomegaly (including tongue)
• associated with mutations in WT2 gene cluster (imprinted at 11p15.5), particularly IGF-2

Answer 20

beckwith-wiedemann syndrome

Question 21

beckwith-wiedemann syndrome is associated with mutations in what gene?

Answer 21

WT2 gene cluster (imprinted at 11p15.5), particularly IGF-2