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DNA STRUCTURE AND FUNCTION > Oncology genes > Flashcards

Oncology genes Flashcards

1
Q

t(8;21)

A

(q22;q22) RUNX1-RUNX1T1

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2
Q

inv(16)

A

(p13.1q22) CBFB-MYH11

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3
Q

t(15;17)

A

(q24;q21) PML-RARA

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4
Q

inv(3)

A

(q21.3q26,2) RPN1-EVI1

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5
Q

t(6;9)

A

(p23;q34.1) DEK-NUP214

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6
Q

t(9;11)

A

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

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7
Q

t(1;22)

A

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

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8
Q

RARA variants

A

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

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9
Q

CEBPA

A

19q13.3

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10
Q

PTPN11

A

12q24

2-4% of AMLs

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11
Q

FLT3

A

13q12

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12
Q

cKIT

A

4q12

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13
Q

RUNX1

A

21q22.3

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14
Q

WT1

A

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

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15
Q

TET2

A

4q24. ?poor ?no effect

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16
Q

IDH 1

A

2q33.3

Prognosis unclear

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17
Q

DNMT3A

A

2p23. Poor prognosis

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18
Q

NPM1

A

5q35.1

Good prognosis

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19
Q

IDH2

A

15q26.1

Prognosis unclear

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20
Q

t(2;8)

A

(p11;q24) IGK-MYC

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21
Q

t(8;14)

A

(q24;q32) IGH-MYC

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22
Q

t(8;22)

A

(q24;q11) MYC-IGL

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23
Q

t(14;18)

A

(q32;q21) IGH-BCL2

Rare variants of BCL2 rearrangements with IGK or IGL

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24
Q

t(11;14)

A

(q13;q32) IGH-CCND1

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25
Q

t(11;18)

A

(q21;q21) BIRC3-MALT1

Also get IGH-MALT1

26
Q

t(2;5)

A

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

27
Q

t(9;14)

A

(p13;q32) PAX5-IGH

28
Q

t(11;22)

A

FLI1-EWSR1

q24;q12

29
Q

t(21;22)

A

ERG-EWSR1

q22;q12

30
Q

t(1;13)

A

PAX7-FOXO1A
(p36;q14)
ARMS

31
Q

t(2;13)

A

PAX3-FOXO1A
(q35;q14)
ARMS

32
Q

IGF2

A

Overexpression in ERMS

11p15.5

33
Q

WT1

A

Wilms tumour

11p13

34
Q

RB1

A

13q14

Rhabdomyosarcoma

35
Q

MYCN

36
Q

t(11;22)

A

(p13;q12) EWSR1-WT1

Desmoplastic small round cell tumour (differential partner from Ewing sarcoma)

37
Q

IGH-MAF

A

t(14;16)(q32;q23)

Poor prognosis

38
Q

IGH-MAFB

A

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

39
Q

IGH-FGFR3/MMSET

A

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

40
Q

IGH-CCND3

A

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

41
Q

TP53

42
Q

Prognosis of SF3B1 in CLL

43
Q

Prognosis of NOTCH1 in CLL

44
Q

Prognosis of ATM loss/mut in CLL

45
Q

Prognosis of TP53 loss/mut

A

Very high risk

46
Q

Prognosis of BIRC3 mut in CLL

A

Very high risk

47
Q

Prognosis of loss of 13q in CLL

48
Q

Prognosis of unmutated IGHV in CLL

A

Inferior outcome when compared to patients with mutated IGHV

49
Q

20% of CLLs have IGH rearrangements, for example?

A

t(14;18)
t(2;14)
t(11;14)
t(14;19)

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

50
Q

Genetics abns in medulloblastoma (brain tumour near cerebellum)

A

GOOD: WNT signalling disruption e.g. CTNNB1 mut

INTERMEDIATE: MYCN amp

POOR: MYC amp, i(17q)

51
Q

Genetic abns in oligodendrioglioma

A

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

52
Q

Genetic abns in glioblastoma

A 
7p gain (EGFR)
loss of 9p (CDKN2A)
loss of 10q (PTEN)
loss of 13q (RB1)
amp of MDM2
53
Q

Glioblastoma type 1

A

TP53 inactivation

54
Q

Glioblastoma type 2

55
Q

Essential thromobocythaemia

A

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

56
Q

Chronic eosinophilic leukaemia

A

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

57
Q

Mastocytosis

A

KIT mutations

58
Q

Primary myelofibrosis

A

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

59
Q

Polcythaemia vera

A

> 95% have JAK2V617F

60
Q

PDGFRB rearrangements

A

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

61
Q

FGFR1 rearrangements

A

t(8;13) ZMYM2
t(8;9) CEP110
t(6;8) FGFR1OP1

Do not respond to TKIs (unlike PDGFRA and B)

DNA STRUCTURE AND FUNCTION (5 decks)

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