Molecular

Question 1

Translocation in epithelioid hemangioendothelioma

Answer 1

t(1;3) WWTR1-CAMTA1 gene fusion

Question 2

Leukemia with BRAFV600E

Answer 2

Hairy cell leukemia

Question 3

AML with t(8;21)

Answer 3

RUNX1

Question 4

Translocation infantile fibrosarcoma

Answer 4

t(12;15) fusion ETV6-NTRK3

Question 5

MEN-1 syndrome

Answer 5

Parathyroid hyperplasia
Pituitary adenoma
Pancreatic islet cell tumor

Question 6

Alveolar soft part sarcoma

Answer 6

DerXt(X;17) TFE3-ASPL

Question 7

Clear cell sarcoma (melanoma of Soft Parts)

Answer 7

t(12;22) EWSR1-ATF1

Or alternate fusion t(2;22) EWSR1-CREB1

Question 8

Desmoplastic small round blue cell tumor

Answer 8

t(11;22) EWS-WT1

Question 9

What are the minimum genes that must be tested in lung adenocarcinoma?

Answer 9

EGFR, ALK, ROS1

Question 10

what salivary gland neoplasm shows EWSR1-ATF1 fusion?

Answer 10

hyalinizing clear cell carcinoma

Question 11

what salivary gland neoplasm shows translocations in PLAG1 or HMGA2?

Answer 11

PA

Question 12

what salivary gland neoplasm shows t(11;19) MAML2 rearrangement

Answer 12

mucoep

Question 13

what salivary gland neoplasm shows t(6;9) leading to MYB overexpression?

Answer 13

adenoid cystic

Question 14

what salivary gland neoplasm shows ETV6-NTRK3 fusino due to t(12;15)?

Answer 14

Mammary carcinoma

Question 15

Name 2 egfr mutations associated with sensitivity to TKIs gefitinib and erlotinib

Answer 15

Exon 19 deletions

Missense exon 21 (L858R)

Question 16

Name 2 egfr mutations with resistance to TKIs

Answer 16

Deletions in exon 20

T790M

Question 17

What is alagille syndrome and what gene is mutated?

Answer 17

Bile duct paucity
May also have cardiac abnormalities
JAG1 gene

Question 18

Which RNA pol produces mRNA

Answer 18

RNA pol II

Question 19

Amount of DNA produced under optimal PCR conditions

Answer 19

2^n

10 fold amplification every 3.3 cycles (2^3.3=10)

Question 20

Which cytochrome p450 affects metabolism of codeine and tricyclic antidepressants?

Answer 20

CYP2D6

Question 21

Which cytochrome p450 affects metabolism of warfarin and phenytoin?

Answer 21

CYP2C9

Question 22

What is caroli disease

Answer 22

Segmental dilation of intraheptic bile ducts, recurrent stone formation and bacterial cholangitis

Question 23

2 features of schwachman-diamond syndrome

Answer 23

Marrow failure

Exocrine pancreatic insufficiency

Question 24

Genetic finding in meningioma

Answer 24

Monosomy chr 22

Question 25

genetic finding in embryonal rhabdomyosarcoma

Answer 25

11p15 LOH