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heme/lymph > genes > Flashcards

genes Flashcards

1
Q

Trisomy 12q

A

C/SLL (chronics,small lymphocytic leukemia)

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2
Q

Histone acetyltransferase mutations (p300, CREBP).

A

DLBCL (diffuse large B cell lymphoma)

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3
Q

T(11:14)*** cyclin D1/IgH

A

mantle cell lymphoma (MCL)

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4
Q

T(8:14) MYC/Ig heavy chain

A
  • Burkitt lymphoma

- DLBCL (diffuse large B cell lymphoma) (myc mutation)

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5
Q

breakpoint on IgH locus

A

(both) burkitt lymphoma

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6
Q

t(11q23:v) MLL

A
  • an AML w genetic abbr

- or an AML therapy related

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7
Q

5q-, 7q-, 20q- abbr

A

AML w MDS-like features: with MDS-like cytogenic abbrs

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8
Q

TAX protein

A

Adult T-cell Leukemia/Lymphoma

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9
Q
  • REL protooncogene (ch. 2p) often gained that increase NFkB.
  • CD 15, 30, 40 (+)
A

RS cell immunophenotype

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10
Q

LoF in EBF

A

B-ALL (bcell acute lymphobalstic leukemia)

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11
Q

ALK* rearrangement on chromosome 2p23

A

Anaplastic Large Cell Lymphoma

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12
Q

Epigenetic alts: DNA methylation and posttranslational modification of histones is altered.

A

AML, Myelodysplastic syndromes (MDS)

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13
Q

reed sternberg cells

A

Hodgkins lymphoma
=Large, aneuploid B cells with multiple nuclei or a single nucleus with multiple lobes and inclusion-like nucleolus and Clearing around the nucleoli

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14
Q

t(14:18)

A

marginal zone lymphoma can acquire this

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15
Q

T(14:18) BCL2/Ig heavy chain

A
  • follicular lymphoma

- DLBCL (diffuse large B cell lymphoma) if came from follicular lymphoma

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16
Q

Chromosomal translocations are rare

A

C/SLL (chronics,small lymphocytic leukemia)

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17
Q

LoF in PAX5

A

B-ALL (bcell acute lymphobalstic leukemia)

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18
Q

BCL6

A

Richter synd (from C/SLL (chronics,small lymphocytic leukemia))

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19
Q

translocated cyclin D1 and D3

A

multiple myeloma (plasma cell myeloma)

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20
Q

t(11:18)

A

marginal zone lymphoma can acquire this

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21
Q

MPL mutation

A

-Essential Thrombocytosis (ET)

22
Q

Trisomy 8

A

Myelodysplastic syndromes (MDS)

23
Q

RNA splicing mutations

A

C/SLL (chronics,small lymphocytic leukemia)

-myelodysplastic synd (MDS)

24
Q

t(1:14)

A

marginal zone lymphoma can acquire this

25
Q

5q-, 7q- abrr

A

an AML therapy related

26
Q

Normal cytogenics, mutated NPM

A

an AML w genetic abbr

27
Q

MYD88

A

lymphoplasmacytic lymphoma

28
Q

GoF NOTCH1*

A
  • T-ALL (tcell acute lymphobalstic leukemia)*

- C/SLL (chronics,small lymphocytic leukemia)

29
Q

TP53 LOF mutations (poor outcome)

A

Myelodysplastic syndromes (MDS)

30
Q

t(8:14)

A

(both) burkitt lymphoma

31
Q

Deletions: 13q14.3(microRNAs 15a & 16-1), 11q, 17p

A

C/SLL (chronics,small lymphocytic leukemia)

32
Q

t(8:21) RUNX1/ETO

A
  • an AML w genetic abbr

- AML, NOS, M2

33
Q

3q27 mutation (translocation or acquired) involving BCL6.

A

DLBCL (diffuse large B cell lymphoma)

34
Q

Chimeric BCR-ABL gene driven by t(9:22), Philadelphia chromosome

A

Chronic Myelogenous Leukemia (CML)

35
Q

balances translocation in t(12:21) ETV6 and RUNX1*

A

B-ALL (bcell acute lymphobalstic leukemia)

36
Q

t(2:8) or t(8:22) for the light chains.

A

Burkitt lymphoma

37
Q

LoF in E2A

A

B-ALL (bcell acute lymphobalstic leukemia)

38
Q

t(15:17) RARA/PML

A

an AML w genetic abbr

39
Q

Monosomies 5, 7

A

Myelodysplastic syndromes (MDS)

40
Q

calreticulin

A

-Essential Thrombocytosis (ET)

41
Q

LoF IkB or A20

A

Hodgkins lymphoma (promote NfKb survival)

42
Q

Induced by AID in germinal center B cells

A

Burkitt lymphoma

43
Q

activating JAK2

A
  • Essential Thrombocytosis (ET)

- Primary Myelofibrosis (PM)

44
Q

somatic hypermutation

A

-marginal zone lymphoma

Hodgkin Lymphoma: Lymphocyte Predominance Subtype

45
Q

Valine → phenylalanine at residue 617.

A

Polycythemia Vera (PCV or PV)

46
Q

IgH gene rearramgements

A
  • DLBCL (diffuse large B cell lymphoma) (primary effusion type)
  • multiple myeloma (plasma cell myeloma)
47
Q

Deletion of 5q, 7q, 20q

A

Myelodysplastic syndromes (MDS)

48
Q

Inv(16) CBFB disrupted

A
  • an AML w genetic abbr

- AML, NOS, M4 (AMML)

49
Q

22q11

A

DiGeorge synd: thymic hypoplasia/aplasia

50
Q

MLL2 mutation

A

follicular lymphoma

51
Q

BRAF

A
  • hairy cell leukemia

- Langerhans Cell Histiocytosis

heme/lymph (18 decks)

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