GU

Question 1

What is the inheritive mode of VHL

what disease do ppl get?

Answer 1

AD

clear cell RCC (multiple, bilat)
pheochromocytoma
hemangioblastoma of brain
pancreatic cyst, inner ear tumor

Question 2

Genetic syndromes/diseases associated with RCC

Answer 2

VHL

1. hereditary papillary RCC (MET)
2. hereditary leiomyomatosis and RCC (fumurate hydratase)
3. Birt-Hogg-Dube syndr (folliculin, AD)
   a. multiple bilat RCC (chromophobe most common)
   b. cutaneous fibrofolliculoma, trichodiscoma, acrochordons

Question 3

differentiate clear cell RCC, chromophobe, oncocytoma

Answer 3

clear cell RCC: CD10 +ve , CK7 -ve , c-kit -ve

chromophone: CD10 +/-ve CK7 +ve, c-kit +ve
oncocytoma: CD10 -ve, CK7 -ve, c-kit +ve

Question 4

syndromes associated with adrenal cortical carcinoma

Answer 4

Li-fraumeni (p53)

Beckwith-Wiedemann (epigenetic imprinting)

Question 5

TCC Variants

Answer 5

1. squamous/glandular/trophoblastic differentiation
2. nested (DDx : florid cystitis cystica), aggressive
3. microcystic
4. Micropapillary (aggressive)
5. plasmacytoid/signet ring (aggressive, CDH1 mut, e-cad loss)
6. giant cell
7. lymphoepithelioma-like
8. sarcomatoid (+/- heterologous elements)