genetics

Question 1

FGFR3 GOF

Answer 1

Low grade papillary carcinomas (bladder urothelial ca)

Question 2

PLAP

Answer 2

classic seminoma, embryonal carcinoma (germ cell tumor)

Question 3

Deletion of 11p13 and the associated genes WT1and PAX6

Answer 3

WAGR synd

Question 4

TP53/RB LOF

Answer 4

High grade muscle invasive tumors (bladder urothelial ca)

• Bad sign

Question 5

Amplification of MYC

Answer 5

prostatic adenoma

Question 6

loss TP53

Answer 6

prostatic adenoma

=late stage

Question 7

HLA-DRB1

Answer 7

T1 RPGN (goodpastures)

Question 8

TSC1 or 2

Answer 8

Angiomyolipoma Renal Fibroma or Hamartoma

Question 9

loss of chromosome 9 (Specifically loss of CDKN2A (p16/INK4a))

Answer 9

Superficial non-invasive tumors (bladder urothelial ca)

Question 10

BAK

Answer 10

testicular germ cell tumors

Question 11

HRAS oncogene activation

Answer 11

Low grade non-invasive tumors (bladder urothelial ca)

Question 12

KIT

Answer 12

testicular germ cell tumors

-NOT embryonal carcinoma

Question 13

IGF-2

Answer 13

Beckwith Wiedmann synd

Question 14

TFE3 mutation

Answer 14

Xp11 translocation carcinoma (renal cell carcinoma)

Question 15

cytokeratim

Answer 15

embryonal carcinoma

Question 16

NPHS2

Answer 16

(podocin gene) (AR) FSGS

steroid resistant kid form of nephrotic synd

Question 17

mutation in VHL –> high levels HIF-1

Answer 17

Von-hippel-lindau (VHL) synd –> dec s/l clear cell renal carcinoma and cysts

Question 18

NPHS1

Answer 18

(nephrin gene)FSGS

-congenital nephrotic synd of the Finnish type

Question 19

HOXB13 mutation

Answer 19

prostatic adenoma

Question 20

APOL1

Answer 20

apolipoprotein 1

Increases risk FSGS in blacks

Question 21

ADAMTS13 (vWF)

Answer 21

TTP (thrombotic thrombocytopenic purpura) (thrombotic microangioraphy)

Question 22

Long expansions of CAG

Answer 22

prostatic adenoma

=> REDUCES RISK

Question 23

X-linked

Answer 23

Alport

Question 24

HLA MHCII

Answer 24

IgA nephropathy

Question 25

trisomies of 7 and 17 with a loss of Y in the sporadic form and just trisomy 7 in the familial form (MET protooncogene)

Answer 25

papillary carcinoma (renal cell carcinoma)

Question 26

CD30

Answer 26

embryonal carcinoma

Question 27

mutations in MET

Answer 27

Hereditary papillary carcinoma

Question 28

MCKD1

Answer 28

Adult-onset medullarycystic dis

Question 29

mutation in WT2

Answer 29

Beckwith Wiedmann synd

Question 30

Deletions in RB

Answer 30

prostatic adenoma

Question 31

Deletions of PTEN (TS)

Answer 31

prostatic adenoma

Question 32

AFP

Answer 32

yolk sac carcinoma

Question 33

alpha-actin 4

Answer 33

AD FSGS | -high progression to renal insuficeincy

Question 34

mutation in FH gene

Answer 34

Hereditary leiomyomatosis and renal cell cancer synd

Question 35

hypermethylation

Answer 35

prostatic adenoma

Question 36

PKHD1

Answer 36

Autosomal Recessive Polycystic Disease | fibrocystin

Question 37

Mutation in the BRCA2

Answer 37

prostatic adenoma | => leads to 20X greater risk

Question 38

mutation in WT1

Answer 38

Denys-drash synd

Question 39

OCT4

Answer 39

classic seminoma, embryonal carcinoma (germ cell tumor),

Question 40

PKD1 and PKD2

Answer 40

Autosomal Dominant Polycystic Disease | polycystin 1 and 2

Question 41

TRP6

Answer 41

adult onset FSGS

Question 42

Rearrangement of ETS family transcription factor gene (ERG or ETV1) next to the androgen regulated TMPRSS2 promotor

Answer 42

prostatic adenoma | -makes the cancer more invasive, although it does not give a worse prognosis.

Question 43

HLA-DQA1 + nephrogenic ag

Answer 43

membranous nephropathy

Question 44

NPHgene

Answer 44

Nephronophthisis | (nephrocystin (JBTS-#)

Question 45

duplication of short arm of 12

Answer 45

ITGN --> testicular germ cell tumor

Question 46

mutation in BHD

Answer 46

Birt-hogg-dube synd