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Heme/Lymph > Mutations > Flashcards

Mutations Flashcards

1
Q

MDS

A

chromosomal abnormalities

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2
Q

recurrent cytogenic abnormalities w/diseases & prognoses

A

t(8,21) AML1/ETO favorable
inv(16) CBFBeta/MYH11 favorable
t(15,17) PML/RARalpha favorable
11q23 rearrangements unfavorable

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3
Q

Langerhans cell histiocytosis

A

CD1a. langerin

BRAF mutations

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4
Q

CML

A

t(9,22), BCR-ABL, constitutively active kinase

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5
Q

PV

A

JAK2, tyrosine kinase

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6
Q

PMF

A

JAK2, tyrosine kinase

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7
Q

ET

A

JAK2, tyrosine kinase

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8
Q

AML w/cytogenic abnormalities

A

t(8,21)
inv16
t(15,17)
11q23 (MLL)

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9
Q

What gene does APL affect? Result?

A

t(15,17)
generates PML-RARalpha
maturation arrest at promyelocyte stage

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10
Q

AML w/myelodysplasia-related changes

A

monosomy 7/del(7q)
monosomy 5/del(5q)
complex karyotypes

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11
Q

Topoisomerase II inhibitor-related AML

A

11q23 (MLL)

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12
Q

Alkylating agent related AML/MDS

A

aberrancies of chromosomes 5 & 7

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13
Q

Langerhans cell tumors

A

BRAF serine/threonine kinase

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14
Q

B-ALL (2)

A

t(12,21) most common in kids

t(9,22) poor prognosis

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15
Q

T-ALL

A

NOTCH1

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16
Q

CLL/SLL

A

trisomy 12

deletions of 11q, 13q & 17p

17
Q

CLL/SLL with worse prognosis?

A

11q &17p deletions

18
Q

Burkitt lymphoma

A

t(8,14)

c-myc

19
Q

Diffuse large B-cell lymphoma

A

BCL6 or
BCL2 or
c-myc

20
Q

Extranodal marginal zone lymphoma

A

t(11,18) MALT 1
t(1,14) IAP2
t(14,18) BCL10-IgH

21
Q

Follicular Lymphoma

A

t(14,18) BCL2-IgH

22
Q

Mantle cell lymphoma

A

t(11,14) CyclinD1-IgH fusion

23
Q

Peripheral T cell lymphoma, unspecified

A

no specific abnormalities

24
Q

Anaplastic large-cell lymphoma

A

ALK rearrangements

25
Q

Extranodal NK/Tcell lymphoma

A

EBV associated

no specific abnormality

Heme/Lymph (18 decks)

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