Translocations/Cytogenetics Flashcards Preview

Heme/Lymph > Translocations/Cytogenetics > Flashcards

Flashcards in Translocations/Cytogenetics Deck (18):
1

t(15;17)

Acute promyelocytic leukemia (APL)

Produces PML-RAR fusion gene --> retinoic acid important for myeloid maturation; disruption of receptor produces maturation arrest at promyelocyte stage

2

AML with recurrent cytogenetic abnormalities
Favorable prognosis

t(8;12)
inv(16)
t(15;17)

3

AML with recurrent cytogenetic abnormalities
Intermediate/unfavorable prognosis

11q23 (MLL) rearrangements

4

t (12;21)
t(9;22)

B-ALL cytogenetic variants
t(12;21) --> good, kids
t(9,22) --> bad, adults

5

t(9;22)

CML
BCR-ABL fusion gene produces protein with tyrosine kinase activity [treatment = imatinib]

6

JAK2 mutations in nearly all cases

PV

7

JAK2 mutations in 50% of cases

PMF (primary myelofibrosis)
ET

8

-5 or del5q, +8, -7 or del7q

MDS

9

BRAF mutations

Langerhans cell histiocytosis

10

Defects in perforin gene

Primary (genetic) LH (Lymphohistiocytosis)

11

Deletion 13q
Mutated IgHV

CLL/SLL -- good prognosis

12

Trisomy 12

CLL/SLL -- intermed prognosis

13

Deletion 11q
Deletion 17p (p53)
Unmutated IgHV
CD38/Zap-70 expression

CLL/SLL -- bad prognosis

14

t(8;14) most common

t(2;8)
t(8;22) are also possible

Burkitt lymphoma

c-myc (TF) & IgH fusion

15

t(11;18)

Most common abnormality in gastric MALTomas (extranodal marginal zone lymphoma)
Creates MALT2-IAP2 fusion gene

16

t(14;18)
Less common -- BCL6 rearrangement

Follicular lymphoma
Creates BCL2-IgH fusion gene

17

t(11;14)

Mantle Cell lymphoma
Creates cyclin D1-IgH fusion gene

18

Rearrangements of ALK gene (tyrosine kinase receptor)
t(2;5)

Anaplastic large-cell lymphoma