12.8: Renal Neoplasia

Question 1

What are angiomyolipoma?

Answer 1

Hamartoma comprised of blood vessels, smooth muscle, and adipose tissue

Question 2

What is the genetic disease in which there is an increased incidence of angiomyolipomas?

Answer 2

Tuberous sclerosis

Question 3

What is Tuberous sclerosis? S/sx? What is the genetic defect in this?

Answer 3

Multisystem genetic disease that causes tumor formation in brain, and other vital organs

Seizures, MR, lung/kidney disease

Mutation in TSC1 or TSC2 which code for the proteins hamartin and tuberin respectively

Question 4

What, generally, is renal cell carcinoma? Where does it arise from?

Answer 4

Malignant epithelial tumor arising from the kidney tubules

Question 5

What is the classic triad for renal cell carcinoma? Which is the most common?

Answer 5

• Hematuria
• Palpable flank mass
• Flank pain

Question 6

What are the paraneoplastic syndromes associated with renal cell carcinoma? (4 hormones)

Answer 6

• EPO
• Renin
• PTHrP
• ACTH

Question 7

Why is it that renal cell carcinoma leads to the development of a LEFT sided varicocele in men?

Answer 7

Involvement of the renal vein compromises the testicular vein on the left side since the testicular vein drains into the renal vein on the left, but the directly into the IVC on the right

Question 8

What are the gross and histological characteristics of renal cell carcinoma?

Answer 8

• Yellow mass

- Clear cytoplasm (clear cell type)

Question 9

What is the genetic mutation involved in the pathogenesis of renal cell carcinoma? What are the two hormones upregulated with this?

Answer 9

• Mutation in VHL, which is a tumor suppressor gene

- IGF and HIF are upregulated and promote growth.

Question 10

Increased HIF transcription factor in RCC increases which two cytokines? What is the function of these?

Answer 10

• VEGF and PDGF

- Angiogenesis

Question 11

What is the chromosome that VHL is located on?

Answer 11

3p

Question 12

What are the two pathways to develop renal cell carcinoma?

Answer 12

• Sporadic pathway

- Hereditary

Question 13

Who is usually affected with sporadic renal cell carcinoma? Where in the kidney is this usually found?

Answer 13

• Smokers

- Upper pole

Question 14

What is von Hippel-Lindau disease (inheritance pattern, defect, risks of CA)?

Answer 14

• AD disorder associated with the inactivation of the VHL gene
• Increased risk for hemangioblastoma of the cerebellum and renal cell carcinoma

Question 15

What is staging of renal cell carcinoma based on (T, N)? Which lymph nodes does it usually met to?

Answer 15

• T = based on tumor size and involvement of the renal vein

- N = spread to retroperitoneal lymph nodes

Question 16

What is the most common malignant renal tumor in children? What is the average age?

Answer 16

Wilms tumor

3 yo

Question 17

What is Wilms tumor?

Answer 17

Malignant kidney disorder comprised of blastema, primitive glomeruli, tubules, and stromal cells

Question 18

What are the hallmark cells that are found within Wilms tumor?

Answer 18

Blastema

Question 19

What are the presenting s/sx of Wilms tumor?

Answer 19

Large, unilateral flank mass with hematuria and HTN

Question 20

What causes the HTN with Wilms tumor?

Answer 20

Renin secretion

Question 21

What is the genetic mutation associated with Wilms tumor?

Answer 21

WT1 mutation

Question 22

What is the WAGR syndrome?

Answer 22

• Wilms tumor
• Aniridia
• Genital abnormalities
• MR

Question 23

What is Beckwith-Wiedemann syndrome?

Answer 23

Sporadic overgrowth disorder caused by mutation in chromosome 11, leading to overactive IGF-2 gene

Question 24

What are the s/sx of Beckwith-Wiedemann syndrome? (4)

Answer 24

• Wilms tumor
• Neonatal hypoglycemia
• Muscular hemihypertrophy
• Organomegaly

Question 25

What is the inheritance pattern of Beckwith-Wiedemann syndrome?

Answer 25

Basically totally sporadic– no increased risk to offspring