Oncology genes

Question 1

t(8;21)

Answer 1

(q22;q22) RUNX1-RUNX1T1

Question 2

inv(16)

Answer 2

(p13.1q22) CBFB-MYH11

Question 3

t(15;17)

Answer 3

(q24;q21) PML-RARA

Question 4

inv(3)

Answer 4

(q21.3q26,2) RPN1-EVI1

Question 5

t(6;9)

Answer 5

(p23;q34.1) DEK-NUP214

Question 6

t(9;11)

Answer 6

(p21.3;q23.3) MLLT3-KMT2A

Question 7

t(1;22)

Answer 7

(p13.3;q13.3) RBM15-MKL1

Question 8

RARA variants

Answer 8

t(11;17)(q13;q21)
t(5;17)(q35;q21)
t(11;17)(q23;q21) ZBTB16

Question 9

CEBPA

Answer 9

19q13.3

Question 10

PTPN11

Answer 10

12q24

2-4% of AMLs

Question 11

FLT3

Answer 11

13q12

Question 12

cKIT

Answer 12

4q12

Question 13

RUNX1

Answer 13

21q22.3

Question 14

WT1

Answer 14

11p13. Involved in apoptosis, differentiation and proliferation of haematopoietic progenitor cells

Question 15

TET2

Answer 15

4q24. ?poor ?no effect

Question 16

IDH 1

Answer 16

2q33.3

Prognosis unclear

Question 17

DNMT3A

Answer 17

2p23. Poor prognosis

Question 18

NPM1

Answer 18

5q35.1

Good prognosis

Question 19

IDH2

Answer 19

15q26.1

Prognosis unclear

Question 20

t(2;8)

Answer 20

(p11;q24) IGK-MYC

Question 21

t(8;14)

Answer 21

(q24;q32) IGH-MYC

Question 22

t(8;22)

Answer 22

(q24;q11) MYC-IGL

Question 23

t(14;18)

Answer 23

(q32;q21) IGH-BCL2

Rare variants of BCL2 rearrangements with IGK or IGL

Question 24

t(11;14)

Answer 24

(q13;q32) IGH-CCND1

Question 25

t(11;18)

Answer 25

(q21;q21) BIRC3-MALT1 | Also get IGH-MALT1

Question 26

t(2;5)

Answer 26

Anaplastic large cell lymphoma (p23;q35) Variant - t(1;2)(q25;p23)

Question 27

t(9;14)

Answer 27

(p13;q32) PAX5-IGH

Question 28

t(11;22)

Answer 28

FLI1-EWSR1 | q24;q12

Question 29

t(21;22)

Answer 29

ERG-EWSR1 | q22;q12

Question 30

t(1;13)

Answer 30

PAX7-FOXO1A (p36;q14) ARMS

Question 31

t(2;13)

Answer 31

PAX3-FOXO1A (q35;q14) ARMS

Question 32

IGF2

Answer 32

Overexpression in ERMS | 11p15.5

Question 33

WT1

Answer 33

Wilms tumour | 11p13

Question 34

RB1

Answer 34

13q14 | Rhabdomyosarcoma

Question 35

MYCN

Answer 35

2p24.1

Question 36

t(11;22)

Answer 36

(p13;q12) EWSR1-WT1 | Desmoplastic small round cell tumour (differential partner from Ewing sarcoma)

Question 37

IGH-MAF

Answer 37

t(14;16)(q32;q23) | Poor prognosis

Question 38

IGH-MAFB

Answer 38

t(14;20)(q32;q12) Poor/very poor

Question 39

IGH-FGFR3/MMSET

Answer 39

t(4;14)(p16.3;q32) Poor

Question 40

IGH-CCND3

Answer 40

t(6;14)(p21;q32) Good

Question 41

TP53

Answer 41

17p13

Question 42

Prognosis of SF3B1 in CLL

Answer 42

High risk

Question 43

Prognosis of NOTCH1 in CLL

Answer 43

High risk

Question 44

Prognosis of ATM loss/mut in CLL

Answer 44

High risk

Question 45

Prognosis of TP53 loss/mut

Answer 45

Very high risk

Question 46

Prognosis of BIRC3 mut in CLL

Answer 46

Very high risk

Question 47

Prognosis of loss of 13q in CLL

Answer 47

Low risk

Question 48

Prognosis of unmutated IGHV in CLL

Answer 48

Inferior outcome when compared to patients with mutated IGHV

Question 49

20% of CLLs have IGH rearrangements, for example?

Answer 49

t(14;18) t(2;14) t(11;14) t(14;19) All have poorer prognosis apart from t(14;18)

Question 50

Genetics abns in medulloblastoma (brain tumour near cerebellum)

Answer 50

GOOD: WNT signalling disruption e.g. CTNNB1 mut INTERMEDIATE: MYCN amp POOR: MYC amp, i(17q)

Question 51

Genetic abns in oligodendrioglioma

Answer 51

Loss of 1p Gain of 19q Mutations in IDH1 and 2, TP53

Question 52

Genetic abns in glioblastoma

Answer 52

``` 7p gain (EGFR) loss of 9p (CDKN2A) loss of 10q (PTEN) loss of 13q (RB1) amp of MDM2 ```

Question 53

Glioblastoma type 1

Answer 53

TP53 inactivation

Question 54

Glioblastoma type 2

Answer 54

EGFR amp

Question 55

Essential thromobocythaemia

Answer 55

50% JAK2V617F 3-4% MPL muts in exon 10 CALR in 60-80%

Question 56

Chronic eosinophilic leukaemia

Answer 56

FIP1L1-PDGFRA (cryptic deletion at 4q14) PDGFRB (various) FGFR1 (various)

Question 57

Mastocytosis

Answer 57

KIT mutations

Question 58

Primary myelofibrosis

Answer 58

50% JAK2V617F der(6)t(1;6) CALR 60-80% MPL 4-8%

Question 59

Polcythaemia vera

Answer 59

>95% have JAK2V617F

Question 60

PDGFRB rearrangements

Answer 60

t(5;12)(q33;p13) ETV6 t(5;14) TRIP11 t(5;7) HIP1

Question 61

FGFR1 rearrangements

Answer 61

t(8;13) ZMYM2 t(8;9) CEP110 t(6;8) FGFR1OP1 Do not respond to TKIs (unlike PDGFRA and B)