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Haematology > Translocations and haem malignancies > Flashcards

Translocations and haem malignancies Flashcards

1
Q

t(9;22)

A

Philadelphia chromosome
In over 95% of cases of CML
Results in part of the Abelson proto oncogene being moved to the BCR gene on chromosome 22
The resulting gene encodes for a fusion protein that has tyrosine Kinase activity in excess of normal
POOR prognostic predictor in ALL

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2
Q

t (15;17)

A

APML

Fusion of PML and RAR-alpha genes

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3
Q

t(8;14)

A

Burkitt’s lymphoma

MYC oncogene is translocated to an immunoglobulin gene

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4
Q

t(11;14)

A

Mantle cell lymphoma

Deregulation of cyclin D1 (BCL-1) gene

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5
Q

EBV associated with which haemopoietic malignancies?

A

Hodgkin
Burkitt
PTLD

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6
Q

HTLV-1 associated with which haemopoietic malignancies?

A

Acute T-lymphoblastic leukaemia/lymphoma

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7
Q

HIV associated with which haemopoietic malignancies?

A

Cerebral DLBCL
DLBCL
Hodgkin

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8
Q

HHV-6 associated with which haemopoietic malignancies?

A

Primary effusion lymphoma (often HIV positive also)

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9
Q

Which chemos notoriously produce treatment related AML/MDS?

A

Etoposide
Anthracyclines
Cyclophosphamide
Autologous stem cell transplant

Also Benzene–>myeloma
Also hair dye –>Follicular lymphoma
ALso radiation–>CML/MDS/secondary acute leukaemia

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10
Q

Blast with Auer rods think…

What will you see on cytochemistry…

A

AML

On cytochemistry will see myeloperoxidase positive

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11
Q

What are the flow cytometry markers in AML?

A

CD 13

CD 33

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12
Q

Strongest prognostic marker in AML?

A

Age of patient. Poor over 60

Chemo has not been shown to improve survival

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13
Q

Good or bad in AML?

t(15;17)

A

good

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14
Q

Good or bad in AML?

inv(16)

A

good

and tend to respond well to anthracyclines

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15
Q

Good or bad in AML?

t(8;21)

A

good

and tend to respond well to anthracyclines

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16
Q

Good or bad in AML?

normal karyotype

A

intermediate

17
Q

Good or bad in AML?

del7 and del5q

A

poor

18
Q

Good or bad in AML?

inv(3)

A

poor

19
Q

Good or bad in AML?

t(3;3)

A

poor

20
Q

Good or bad in AML?

t(6;9)

A

poor

21
Q

Good or bad in AML?

t(9;22)

A

poor

22
Q

Good or bad in AML?

11q23

A

poor

23
Q

In normal karyotype leukaemia (which is intermediate risk), what does the Flt3 receptor mutation and NPM1 mutation mean?

A

Molecular markers
Flt3 ITD receptor mutation - poor
NPM1 mutation - good

24
Q

Acute lymphoblastic leukaemia morphology:

A

Acute leukaemia with more than 20% blasts in blood or bone marrow
NO Auer rods

25
Q

Immunophenotyping for ALL?

A

Lymphoid antigens:
CD10 TdT
B cell CD 19 CD20
T cell CD 2 CD3 CD 4 CD8

26
Q

Good or bad cytogenetics in ALL?

t(9;22)

A

poor

27
Q

Good or bad molecular mutation profile in ALL?

Bcr-Abl

A

poor
still incurable with chemo without transplant
Do give inhibitor eg imatinib dasatinib
give allogeneic transplant to these people in first clinical remission, or other ALLs if have relapsed disease.

28
Q

List bad in aml

A

-5
-7
Del 5q
5 or more unrelated abn
3q abnormality

29
Q

Good in aml

A

T 15 ;17
T 8;21
Inv 16

30
Q

What is the role of cytogenetics for AML first up?

A

Can change management strategy. Ie do you go for allo SCT as up front therapy or not.

31
Q

Do you give maintenance in acute leukaemias?

A

ALL yes 2 years

AML no

32
Q

Immunophenotyping in CLL

A

CD5 CD19 B cells that show clonality ie kappa or lambda light chain restricted

33
Q

Favourable cytogenetics in CLL?

A

13q deletion

34
Q

Poor cytogenetics in CLL?

A

11q

17p

35
Q

CLL gold standard chemo

A

Fludarabine
Cyclophosphamide
Ritux

36
Q

Treatment for MDS with 5q del?

A

Lenalidomide

37
Q

How to tell the difference between chronic phase, accelerated phase and blast crisis in CML

A

Chronc under 15% blasts
Accel 15-29%
Crisis 30 or more

plus other factors can bump up

38
Q

In JAK2 negative MF and ET, what mutation could you see?

A

Calreticulin!!!!

Usually doesn’t coexist with JAK2
A “good” mutation

Haematology (19 decks)

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