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Cancer Genetics > Haematological Oncology Mutations > Flashcards

Haematological Oncology Mutations Flashcards

1
Q

What mutations are common in the Myeloproliferative Neoplasms (PV, ET, MF)?

A
  • JAK2 V617F - can be tested using ddPCR
  • BCR-ABL - can be tested using RT-PCR / RQ-PCR)
  • KIT D816V - can be tested using ddPCR
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2
Q

What is the defining mutation in CML?

A
  • t(9;22)(q34;q11) - Ph - BCR-ABL1 - can be tested using G-banding, FISH, RT-PCR, RQ-PCR
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3
Q

What mutations may be detected in CML other than the Ph translocation?

A

Variants such as t(8;9;22)

AKD testing for mutations (sequencing)

Major route mutations in Ph+ cells include:

  • Trisomy 8, Trisomy 19
  • +der(22) or ider(22) - gain of BCR-ABL
  • i(17)(q10)
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4
Q

What are the major route mutations in Ph+ cells in CML?

A

The chromosome changes occurring in excess of the Ph in CML are clearly nonrandom and two pathways of cytogenetic evolution may be distinguished.

Major route mutations in Ph+ cells include:

  • Trisomy 8, Trisomy 19
  • +der(22) or ider(22) - gain of BCR-ABL
  • i(17)(q10)
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5
Q

What mutations are associated with a favourable risk in AML?

A

Good prognosis/Favourable risk:

  • t(8;21)(q22;q22.1); RUNX1-RUNXT1
  • Inv(16)(p13.1q22) or t(16;16); CBFB-MYH11
  • NPM1 mutations without FLT3-ITD
  • Biallelic CEBPA mutations
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6
Q

What mutations are associated with a adverse risk in AML?

A

Poor prognosis/Adverse risk

  • t(6;9)(p23;q34.1); DEK-NUP214
  • t(v;11q23.3); KMT2A rearrangement (except t(9;11))
  • t(9;22)(q34;q11); BCR-ABL1
  • inv(3)(q21q26) or t(3;3); GATA2, MECOM (EVI1)
  • Complex karyotype, monosomal karyotype
  • -5, del(5q), -7, -17, abnormal 17p
  • WT NPM1 and FLT3-ITD
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7
Q

In AML what genes are associated with t(8;21)(q22;q22.1)?

A
  • t(8;21)(q22;q22.1) = RUNX1-RUNXT1
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8
Q

In AML what genes are associated with Inv(16)(p13.1q22) or t(16;16) ?

A

Inv(16)(p13.1q22) or t(16;16) = CBFB-MYH11

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9
Q

In AML what risk is t(8;21)(q22;q22.1) associated with?

A

Favourable Risk - t(8;21)(q22;q22.1); RUNX1-RUNXT1

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10
Q

In AML what risk is Inv(16)(p13.1q22) or t(16;16) associated with?

A

Favourable Risk - Inv(16)(p13.1q22) or t(16;16); CBFB-MYH11

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11
Q

In AML what risk are NPM1 mutations without FLT3-ITD associated with?

A

Favourable Risk - NPM1 mutations without FLT3-ITD

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12
Q

In AML what risk are Biallelic CEBPA mutations associated with?

A

Favourable Risk - Biallelic CEBPA mutations

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13
Q

In AML what risk is t(6;9)(p23;q34.1); DEK-NUP214 associated with?

A

Poor Prognosis - t(6;9)(p23;q34.1); DEK-NUP214

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14
Q

In AML what risk is t(v;11q23.3); KMT2A rearrangement (except t(9;11)) associated with?

A

Poor Prognosis - t(v;11q23.3); KMT2A rearrangement (except t(9;11))

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15
Q

In AML what risk is t(9;22)(q34;q11); BCR-ABL1 associated with?

A

Poor Prognosis - t(9;22)(q34;q11); BCR-ABL1

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16
Q

In AML what risk is inv(3)(q21q26) or t(3;3); GATA2, MECOM (EVI1) associated with?

A

Poor Prognosis - inv(3)(q21q26) or t(3;3); GATA2, MECOM (EVI1)

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17
Q

In AML what risk is a complex karyotype or a monosomal karyotype associated with?

A

Poor Prognosis - Complex karyotype, monosomal karyotype

18
Q

In AML what risk is -5 associated with?

A

-5 = Poor Prognosis -

19
Q

In AML what risk is WT NPM1 and FLT3-ITD associated with?

A

Poor Prognosis - WT NPM1 and FLT3-ITD

20
Q

In AML what prognosis is del(5q) associated with?

A

del(5q) = poor prognosis

21
Q

In AML what prognosis is -7 associated with?

A

-7 = poor prognosis

22
Q

In AML what prognosis is -17 associated with?

A

-17 = poor prognosis

23
Q

In AML what prognosis is abnormal 17p associated with?

A

abnormal 17p = poor prognosis

24
Q

What mutations are classified as high risk in AML?

A

High risk in ALL:

  • iAMP21 (B)
  • Low hypodiploidy (B)/near haploidy (C)
  • t(17;19)/TCF3-HLF (C)
  • t(9;22)/BCR-ABL1 (B)
  • MLL (KMT2A) translocations (B)
  • Complex karyotype (A)
25
Q

What mutations are classified as high risk in AML?

A

High risk in ALL:

  • iAMP21 (B)
  • Low hypodiploidy (B)/near haploidy (C)
  • t(17;19)/TCF3-HLF (C)
  • t(9;22)/BCR-ABL1 (B)
  • MLL (KMT2A) translocations (B)
  • Complex karyotype (A)
26
Q

What genes are associated with t(12;21) in ALL?

A

t(12;21) = ETV6-RUNX1 = good risk

27
Q

In ALL what risk is iAMP21 associated with?

A

iAMP21 (B) = high risk

28
Q

In ALL what risk is low hypodiploidy / near haploidy associated with?

A

Low hypodiploidy (B)/near haploidy (C) = high risk

29
Q

In ALL what risk is t(17;19) / TCF3-HLF associated with?

A
  • t(17;19)/TCF3-HLF (C) = high risk
30
Q

What genes are associated with the high risk ALL translocation t(17;19)?

A
  • t(17;19) = TCF3-HLF = high risk
31
Q

In ALL what risk is t(9;22) / BCR-ABL1 associated with?

A
  • t(9;22)/BCR-ABL1 (B) = high risk
32
Q

In ALL what genes are associated with the high risk t(9;22) / BCR-ABL1 translocation?

A

t(9;22) = BCR-ABL1 = high risk

33
Q

In ALL what risk are MLL (KMT2A) translocations associated with?

A
  • MLL (KMT2A) translocations = high risk
34
Q

In ALL what risk is a complex karyotype associated with?

A
  • Complex karyotype = high risk
35
Q

Describe the different types of mutation mechanisms that can result in haematological cancers.

A

Mutation mechanisms include increased proliferation, lack of differentiation, inappropriate receptor or TK activation, or gain or function in fusion genes.

Examples:

  1. Differentiation block - PML-RARA (overcome by ATRA treatment)
  2. Constitutively active TK - BCR-ABL (fusion protein), JAK2 (V617F mutation in regulatory
    region)
  3. Loss of transcriptional regulation of haematopoesis - KMT2A
  4. Gain of oncogenes, loss of tumour suppressors - Selective aneuploidy, del or dup of region eg iAMP21
36
Q

What mutation mechanism leads to neoplasm in the case of PML-RARA?

A

PML-RARA introduces a differentiation block resulting in a lack of differentiation. This can be overcome by treatment with ATRA.

37
Q

What mutation mechanism leads to neoplasm in the case of the BCR-ABL translocation?

A

BCR-ABL translocation leads to the formation of a fusion protein that results in constitutively active TK.

38
Q

What mutation mechanism leads to neoplasm in the case of the JAK2 mutation?

A

JAK2 - V167F mutation in regulatory region results in constitutive activation of the JAK2 TK.

39
Q

What mutation mechanism leads to neoplasm in the case of MLL (KMT2A) mutations?

A

MLL (KMT2A) causes a loss of transcriptional regulation of haematopoiesis.

40
Q

What mutation mechanism is the iAMP21 mutation associated with?

A

Gain of oncogenes, loss of tumour suppressors

Selective aneuploidy, del or dup of region eg iAMP21

Cancer Genetics (21 decks)

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