Tumor markers and genetics

Question 1

+MPO, +NSE

Answer 1

AML

Question 2

t(15;17)/PML-RARA

Answer 2

APL

Question 3

Intermediate risk AML

Answer 3

t(9:11)

Question 4

Low risk AML

Answer 4

t(8;21)

inv(16)/t(16;16)

Question 5

AML with atypical eosinophils

Answer 5

AML with inv(16)

Question 6

AML with large blasts with long sharp Auer rod

Answer 6

AML with t(8;21)

Question 7

Diagnostic mutations in AML

Answer 7

NPM1, CEBPA, RUNX1

Question 8

Prognostic mutations in AML

Answer 8

FLT3, KIT

Question 9

NPM1 + FLT3 mutation in AML

Answer 9

bad news

Question 10

CEBPA mutation in AML

Answer 10

favorable outcomes

Question 11

Confers worse prognosis in AML

Answer 11

FLT3 KD

Question 12

Familial MDS

Answer 12

Mutation in RUNX1, CEBPA, GATA2

Question 13

-7 or del(7q)

del(5q)

Answer 13

MDS

Question 14

Recurrent gene mutations in MDS

Answer 14

RNA splicing, DNA methylation, Chromatin modification, Transcription factor, Tumor suppressor

Question 15

SF3B1 mutation

Answer 15

MDS with ring sideroblasts

Question 16

CD-34, TdT, CD1a

Answer 16

Precursor markers in ALL

Question 17

B cell markers

Answer 17

CD10, CD19, CD22

Question 18

T cell markers

Answer 18

CD3, CD1a, CD2, CD5, CD7

Question 19

t(12;21) EVT6 - RUNX1 - better for kids

t(9:22) BCR-ABL1 - worse and mostly in adults

Answer 19

B-ALL

Question 20

NOTCH1 mutation

Answer 20

T-ALL

Question 21

CD38, CD138

Answer 21

Plasma cell

Question 22

High risk in multiple myeloma

Answer 22

Del(17p)

Question 23

MYD88 gene mutation

Answer 23

Waldenstrom’s macroglobulinemia

Question 24

APC mutation

Answer 24

Gardner

Question 25

KIT or PDGFRA mutation

Answer 25

GI stromal tumor (GIST)

Question 26

PDGF expression

Answer 26

Dermatofibrosarcoma protuberans

Question 27

RANK ligand

Answer 27

Giant cell tumor of the bone

Question 28

NF1 inactivation/deletion

Answer 28

Myxofibrosarcoma

Malignant peripheral nerve sheath

Question 29

CDK4, MDM2 amplification

Answer 29

Liposarcoma

Question 30

t(12;16) TLS-CHOP

Answer 30

Myxoid/round cell liposarcoma

Question 31

t(X;18) SYT-SSX1

Answer 31

Synovial sarcoma

Most sensitive adult sarcoma to chemo (ifofsfamide)

Question 32

Imatinib favorable response in GIST

Answer 32

KIT exon 11

Question 33

Imatinib intermediate response in GIST

Answer 33

KIT exon 9

Question 34

Imatinib low response in GIST

Answer 34

Wild type or

PDGFRA D842V

Question 35

Co-express CD5 and CD20 and smudge cells

Answer 35

CLL

Question 36

Cell positive for TRAP (tartrate-resistant acid phosphatase)

Answer 36

Hairy cell leukemia

Question 37

Pautrier micro abscesses and Cerebriform nuclei (Sezary cell)

Answer 37

Mycosis Fungoides

Question 38

CD15+ and CD30+ B cell origin

Answer 38

Hodgkin lymphoma

Question 39

Jak2 kinase mutation

Answer 39

PV, ET, Myelofibrosis

Myeloproliferative disorders

Question 40

t(14:18)

Bcl2

Answer 40

Follicular lymphoma

Question 41

t(11:14)

cyclin D

Answer 41

Mantle cell lymphoma

Question 42

t(8:14)

c-myc

Answer 42

Burkitt lymphoma

Question 43

CD1a+, S100+

Tennis racket granules

Answer 43

Langerhans cell histiocytosis

Question 44

t(11:18)

Answer 44

Marginal zone lymphoma

Question 45

BRAF mutation

Answer 45

Hairy cell leukemia
Melanoma
Papillary thyroid carcinoma

Question 46

ALK mutation

Answer 46

Lung adenocarcinoma

Question 47

Her2/neu

Answer 47

Breast and gastric carcinomas

Question 48

KRAS mutation

Answer 48

Colon cancer, lung cancer, pancreatic cancer

Question 49

APC (negative regulator of B-caenin/WNT pathway)

Answer 49

Colorectal cancer

FAP (Familial adenomatous polyposis )

Question 50

PTEN

Answer 50

Breast, prostate, endometrial cancer

Question 51

Down syndrome

Answer 51

ALL and AML association

Question 52

IHC stain for lung adenocarcinoma

Answer 52

CK7+, CK20-, TTF1+

Question 53

IHC stain for squamous cell lung carcinoma

Answer 53

p63+, p40+

Question 54

Driver mutations in glioblastoma

Answer 54

EGFR
Loss of PTEN
TERT promoter mutations