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Flashcards in Molecular Deck (25)
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1

Translocation in epithelioid hemangioendothelioma

t(1;3) WWTR1-CAMTA1 gene fusion

2

Leukemia with BRAFV600E

Hairy cell leukemia

3

AML with t(8;21)

RUNX1

4

Translocation infantile fibrosarcoma

t(12;15) fusion ETV6-NTRK3

5

MEN-1 syndrome

Parathyroid hyperplasia
Pituitary adenoma
Pancreatic islet cell tumor

6

Alveolar soft part sarcoma

DerXt(X;17) TFE3-ASPL

7

Clear cell sarcoma (melanoma of Soft Parts)

t(12;22) EWSR1-ATF1
Or alternate fusion t(2;22) EWSR1-CREB1

8

Desmoplastic small round blue cell tumor

t(11;22) EWS-WT1

9

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

EGFR, ALK, ROS1

10

what salivary gland neoplasm shows EWSR1-ATF1 fusion?

hyalinizing clear cell carcinoma

11

what salivary gland neoplasm shows translocations in PLAG1 or HMGA2?

PA

12

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

mucoep

13

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

adenoid cystic

14

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

Mammary carcinoma

15

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

Exon 19 deletions
Missense exon 21 (L858R)

16

Name 2 egfr mutations with resistance to TKIs

Deletions in exon 20
T790M

17

What is alagille syndrome and what gene is mutated?

Bile duct paucity
May also have cardiac abnormalities
JAG1 gene

18

Which RNA pol produces mRNA

RNA pol II

19

Amount of DNA produced under optimal PCR conditions

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

20

Which cytochrome p450 affects metabolism of codeine and tricyclic antidepressants?

CYP2D6

21

Which cytochrome p450 affects metabolism of warfarin and phenytoin?

CYP2C9

22

What is caroli disease

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

23

2 features of schwachman-diamond syndrome

Marrow failure
Exocrine pancreatic insufficiency

24

Genetic finding in meningioma

Monosomy chr 22

25

genetic finding in embryonal rhabdomyosarcoma

11p15 LOH