Kidney Neoplasms Genes/Translocations

Question 1

Renal Papillary Adenoma

Answer 1

Benign

Share some immunohistochemical and cytogenetic features with trisomies 7 and 17

Question 2

Angiomyolipoma

Answer 2

Aka renal fibroma or hamartoma

associated with Tuberous Sclerosis-TSC1 or TSC2

Question 3

TSC1 and TSC2

Answer 3

Tuberous sclerosis

tumor suppressor genes

Question 4

4 genetic disorders associated with renal cell carcinoma

Answer 4

Von-Hippel-Lindau (VHL) syndrome
Hereditary Leiomyomatosis and Renal Cell cancer Syndrome
Hereditary papillary carcinoma
Birt-Hogg-Dube syndrome

Question 5

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

Answer 5

AD Genetic version of renal cell carcinoma

mutations in FH gene (fumarate hydratase)

Question 6

Hereditary papillary carcinoma

Answer 6

AD associated with RCC

mutation in MET proto-oncogene

Question 7

Birt-Hogg-Dube Syndrome

Answer 7

AD associated with RCC

mutationsin BHD gene (expresses folliculin)

Question 8

Clear Cell Carcinoma

Answer 8

loss on chromosome 3 where the VHL gene is–>high levels of HIF-1

Question 9

What does HIF-1 activate?

Answer 9

VEGF and IGF-1

Question 10

Papillary Carcinoma

Answer 10

trisomies 7 and 17, losso fY in males–>sporadic form

Familial form–>just trisomy 7–>MET-proto-oncogene that encodes the tyrosine kinase receptor for HGF

Question 11

Xp11 translocation carcinoma

Answer 11

Translocation and overexpression of the TFE3 gene

Question 12

Wilms Tumor

Answer 12

Group 1 and 2 associated with chromosome 11, WT1 mutations or loss of 2nd hit

Question 13

Noninvasive low-grade papillary carcinomas

Answer 13

gain of function FGFR3 and activation of HRAS

Question 14

High grade and invasive urothelial tumors

Answer 14

loss of function TP53, RB

Question 15

Superficial noninvasive papillary tumors and noninvasive flat tumors

Answer 15

deletions of chromosome 9

deletion of tumor suppressor gene CDKN2A