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genes Flashcards

(51 cards)

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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

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A

-Essential Thrombocytosis (ET)

22
Q

Trisomy 8

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A

Myelodysplastic syndromes (MDS)

23
Q

RNA splicing mutations

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A

C/SLL (chronics,small lymphocytic leukemia)

-myelodysplastic synd (MDS)

24
Q

t(1:14)

Study These Flashcards
A

marginal zone lymphoma can acquire this

25
5q-, 7q- abrr
an AML therapy related
26
Normal cytogenics, mutated NPM
an AML w genetic abbr
27
MYD88
lymphoplasmacytic lymphoma
28
GoF NOTCH1*
- T-ALL (tcell acute lymphobalstic leukemia)* | - C/SLL (chronics,small lymphocytic leukemia)
29
TP53 LOF mutations (poor outcome)
Myelodysplastic syndromes (MDS)
30
t(8:14)
(both) burkitt lymphoma
31
Deletions: 13q14.3(microRNAs 15a & 16-1), 11q, 17p
C/SLL (chronics,small lymphocytic leukemia)
32
t(8:21) RUNX1/ETO
- an AML w genetic abbr | - AML, NOS, M2
33
3q27 mutation (translocation or acquired) involving BCL6.
DLBCL (diffuse large B cell lymphoma)
34
Chimeric BCR-ABL gene driven by t(9:22), Philadelphia chromosome
Chronic Myelogenous Leukemia (CML)
35
balances translocation in t(12:21) ETV6 and RUNX1*
B-ALL (bcell acute lymphobalstic leukemia)
36
t(2:8) or t(8:22) for the light chains.
Burkitt lymphoma
37
LoF in E2A
B-ALL (bcell acute lymphobalstic leukemia)
38
t(15:17) RARA/PML
an AML w genetic abbr
39
Monosomies 5, 7
Myelodysplastic syndromes (MDS)
40
calreticulin
-Essential Thrombocytosis (ET)
41
LoF IkB or A20
Hodgkins lymphoma (promote NfKb survival)
42
Induced by AID in germinal center B cells
Burkitt lymphoma
43
activating JAK2
- Essential Thrombocytosis (ET) | - Primary Myelofibrosis (PM)
44
somatic hypermutation
-marginal zone lymphoma | Hodgkin Lymphoma: Lymphocyte Predominance Subtype
45
Valine → phenylalanine at residue 617.
Polycythemia Vera (PCV or PV)
46
IgH gene rearramgements
- DLBCL (diffuse large B cell lymphoma) (primary effusion type) - multiple myeloma (plasma cell myeloma)
47
Deletion of 5q, 7q, 20q
Myelodysplastic syndromes (MDS)
48
Inv(16) CBFB disrupted
- an AML w genetic abbr | - AML, NOS, M4 (AMML)
49
22q11
DiGeorge synd: thymic hypoplasia/aplasia
50
MLL2 mutation
follicular lymphoma
51
BRAF
- hairy cell leukemia | - Langerhans Cell Histiocytosis

heme/lymph (18 decks)

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