Familial RCC

Question 1

What is the mutation in von hippel lindau disease?

Answer 1

mutated tumor suppressor VHL gene at 3p25-26

Question 2

What is the VHL complex?

Answer 2

RCC clear cell type (bilateral, multifocal, and recurrent)
Pheochromocytoma
retinal angiomas
nervous system hemangioblastomas
Epididymal cystadenomas (common and benign)

Question 3

VHL type 1 or 2: which is high risk for pheochromocytoma?

Answer 3

Type 2 VHL: high risk for pheos

Type 1 VHL = low risk

Question 4

Are renals cysts in VHL disease worrisome?

Answer 4

Yes, b/c all cysts have malignant potential in VHL disease

Question 5

Which type of papillary RCC is aka Hereditary Papillary RCC (HPRCC)?

Answer 5

Type 1

Question 6

Mutation in HPRCC?

Answer 6

Trisomy 7 and 17

causing mutated proto-oncogene of cMet at 7q31

Question 7

Is type 1 papillary or type 2 papillary RCC more aggressive?

Answer 7

Type 2 (sporadic)

Type 1 = basophilic staining, low grade. Type 2 = eosinophilic staining, high grade

Question 8

What are the primary findings in Hereditary Leiomyomatosis and RCC (HLRCC)?

Answer 8

Cutaenous and/or uterine leiomyomata (fibroids) and papillary type 2 RCC
- usually solitary and unilateral RCC, seen in 10-20% of patients

**treat aggressively and quickly, b/c the RCC is aggressive

Question 9

Mutation in Birt-Hogg-Dube syndrome?

Answer 9

mutated folliculin gene on 17p11.2

*same mutation seen in chromophobe RCC, hence their association

Question 10

Findings in Birt-Hogg-Dube syndrome?

Answer 10

chromophobe RCC and/or renal oncocytomas, cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax

Question 11

This tumor arises from distal tubules, stains Hale’s colloidal +, and has diffuse CK7 staining?

Answer 11

Chromophobe RCC

Question 12

This tumor arises from the collecting duct and has stains 100% of the time for vimentin

Answer 12

Bellini duct RCC

Rare cancer, but only one that arises from collecting duct

Question 13

This tumor arises from proximal tubules, associated with cMet mutation of proto-oncogene, trisomy 7 and 17 seen on urinary FISH tests, and stains basophilic

Answer 13

Papillary type 1 (HPRCC)

Question 14

This tumor arises from proximal tubule, associated with VHL mutation on chromosome 3, and commonly stains positive for CD10 and vimentin

Answer 14

Clear cell RCC

Question 15

This tumor arises from proximal tubule, mutation in fumarate hydratase on 1q42, and stains eosinophilic

Answer 15

Papillary type 2

Question 16

This tumor arises from endothelium, smooth muscle, and fat, stains positive for HMB-45

Answer 16

Angiomyolipoma