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Cancer Genetics > Haematological Oncology Mutations > Flashcards

Haematological Oncology Mutations Flashcards

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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?

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A

Poor Prognosis - Complex karyotype, monosomal karyotype

18
Q

In AML what risk is -5 associated with?

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A

-5 = Poor Prognosis -

19
Q

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

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A

Poor Prognosis - WT NPM1 and FLT3-ITD

20
Q

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

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A

del(5q) = poor prognosis

21
Q

In AML what prognosis is -7 associated with?

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A

-7 = poor prognosis

22
Q

In AML what prognosis is -17 associated with?

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A

-17 = poor prognosis

23
Q

In AML what prognosis is abnormal 17p associated with?

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A

abnormal 17p = poor prognosis

24
Q

What mutations are classified as high risk in AML?

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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
What mutations are classified as high risk in AML?
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
What genes are associated with t(12;21) in ALL?
t(12;21) = ETV6-RUNX1 = good risk
27
In ALL what risk is iAMP21 associated with?
iAMP21 (B) = high risk
28
In ALL what risk is low hypodiploidy / near haploidy associated with?
Low hypodiploidy (B)/near haploidy (C) = high risk
29
In ALL what risk is t(17;19) / TCF3-HLF associated with?
- t(17;19)/TCF3-HLF (C) = high risk
30
What genes are associated with the high risk ALL translocation t(17;19)?
- t(17;19) = TCF3-HLF = high risk
31
In ALL what risk is t(9;22) / BCR-ABL1 associated with?
- t(9;22)/BCR-ABL1 (B) = high risk
32
In ALL what genes are associated with the high risk t(9;22) / BCR-ABL1 translocation?
t(9;22) = BCR-ABL1 = high risk
33
In ALL what risk are MLL (KMT2A) translocations associated with?
- MLL (KMT2A) translocations = high risk
34
In ALL what risk is a complex karyotype associated with?
- Complex karyotype = high risk
35
Describe the different types of mutation mechanisms that can result in haematological cancers.
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
What mutation mechanism leads to neoplasm in the case of PML-RARA?
PML-RARA introduces a differentiation block resulting in a lack of differentiation. This can be overcome by treatment with ATRA.
37
What mutation mechanism leads to neoplasm in the case of the BCR-ABL translocation?
BCR-ABL translocation leads to the formation of a fusion protein that results in constitutively active TK.
38
What mutation mechanism leads to neoplasm in the case of the JAK2 mutation?
JAK2 - V167F mutation in regulatory region results in constitutive activation of the JAK2 TK.
39
What mutation mechanism leads to neoplasm in the case of MLL (KMT2A) mutations?
MLL (KMT2A) causes a loss of transcriptional regulation of haematopoiesis.
40
What mutation mechanism is the iAMP21 mutation associated with?
Gain of oncogenes, loss of tumour suppressors Selective aneuploidy, del or dup of region eg iAMP21

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