DGIs

Question 1

CYP2c19

Answer 1

Clopidogrel/Plavix

Sertraline

Question 2

CYP3A5

Answer 2

Tacrolimus

Question 3

CYP2C9/VKORC1/CYP4F2

Answer 3

Warfarin

Question 4

TMPT

Answer 4

Thiopurine drugs

Question 5

SLCO1B1

Answer 5

Statins

Question 6

CYP2D6

Answer 6

Codeine, tramadol, opioids, Zoltan, Paxil

Question 7

Pilocytic Astrocytoma

Answer 7

BRAF::KIAA1549 fusion

Question 8

Oligodendroglioma

Answer 8

1p- / 19q- co-deletion

Question 9

Astrocytoma

Answer 9

8q+, 10p+, 11p-, gain of 7, loss of 10

Question 10

Glioblastoma

Answer 10

+7, EGFR amp, homozygous loss of CDKN2A, -10

Question 11

Medulloblastoma

Answer 11

Most common malignant brain tumor in kids
4 groups: WNT, SHH, Group 3 and 4
Common abnormalities: iso17q, MYCN amp, TP53 mutations, TERT mutations, MYC amp

Question 12

Optic pathway tumor, malignant peripheral nerve sheath tumor, JMML

Answer 12

NF1

Question 13

Medullary thyroid cancer

Answer 13

RET

Question 14

Clear cell meningioma

Answer 14

SMARCE1

Question 15

Acoustic or vestibular schwannomas

Answer 15

NF2

Question 16

Pulmonary pleuroblastoma, CNS sarcoma

Answer 16

DICER1

Question 17

DLBCL

Answer 17

BCL6, TP53, CDKN2A, MYC, BCL2

Question 18

Melanoma, pancreatic cancer

Answer 18

CDKN2A

Question 19

Breast, prostate, and endometrial cancer

Answer 19

PTEN

Question 20

Liposarcoma

Answer 20

Supernumerary ring chromosomes, giant marker chromes, double minutes
Assoc w/amp of MDM2 and CDK4

Question 21

Steps of Khoeler illumination

Answer 21

1. Close field diaphragm.
2. Center field diaphragm.
3. Adjust condenser to focus field diaphragm.
4. Open field diaphragm just beyond the field of view.

Question 22

MALT lymphoma

Answer 22

t(11;18)

Question 23

Burkitt’s

Answer 23

t(8;14), t(8;22), or t(2;8)

Question 24

ALL w/KMT2A involvement

Answer 24

Poor prognosis

Question 25

Anaplastic large cell lymphoma

Answer 25

t(2;5) resulting in ALK rearrangement

Question 26

Mantle cell

Answer 26

t(11;14)

Question 27

Conventional clear cell RCC

Answer 27

deletions of 3p21 (VHL)

Question 28

Papillary RCC

Answer 28

Combination of tri and tetrasomy of chromes 7, 12, 16, 17, and 20

Question 29

Neuroectoderal tumor

Answer 29

AKA Ewings sarcoma t(11;22)

Question 30

Aveolar rhabdomyosarcoma

Answer 30

t(2;13)(q36;q14) or t(1;13)(p36;q14). The FOXO1 gene on 13q14 rearranges with the PAX3 gene on 2q35 and the PAX7 gene on 1p36 and results in formation of fusion gene products.

Question 31

Chromophobe-type RCC

Answer 31

modal chromosome number of 38-39. Monosomy of chromosomes 1, 2, 6, 10, 13, 17, and 21 are most frequent.

Question 32

Incidence of chromosome abnormalities in first trimester miscarriages

Answer 32

~60-70%