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Flashcards in Translocations with Disease Info Deck (26):
1

t(9; 22)

Dx:
Protein:
Class of mutation:
Prognosis:
Epidemiology:
Signs/Symptoms
Tx:

CML and ALL
BCR-ABL fusion protein
Class 1
Poor
Older Adults (CML) and Kids (ALL)
CML: brusing, purpura, inc uric acid, fatigue, weight loss, abd tender/fullness
ALL: none given

CML Tx: Imatinib, Busulfan, hydroxyurea, interferon

ALL Tx:
nduction: VCR, L-ASP, DEX, or PRED +/- Daunorubicin

Consolidation: Daunorubicin , HD ARA-C, VCR, Etoposide, TG or 6-MP, cyclophosphamide, L-ASP

CNS prophylaxis: with intrathecal MTX or ARA-C

Maintenance: 6-MO, MTX, prednisone

2

t(8, 21)

Dx:
Protein:
Class of mutation:
Prognosis:
Epidemiology:
Notable cell morphology:
Tx:

AML (M2 granulocytic maturation)
RUNX1-RUNT1 or ETO-AML1
Class II
Good
Children
Auer rods
standard induction + ARA-C

3

t(15, 17)

Dx:
Protein:
Class of mutation:
Prognosis:
Notable cell morphology:
Signs/Symptoms:
Tx:

AML (M3 or promyelocytic)
PML-RARA
Class II
Good
Stacks of Auer rods, bat-wing nuclei
DIC/Thrombocytopenia
ATRA + arsenic + anthracycline

4

inv(16)

Dx:
Protein:
Class of mutation:
Prognosis:
Epidemiology:
Notable cell morphology:
Tx:

AML
CBFB-MYH11
Class II
good
kids
inc eosinophils in PBS and BM
cytarabine (Goorha: Std induction + ARA-C)

5

del5q

Dx:
Tx:

MDS
Lenalidomide

6

t(v, 11q23)

Dx:
Protein:
Class of mutation:
Prognosis:
Epidemiology:
Tx:

B-ALL
MLL-AF4
Class II
poor
Kids <1 y/o

Induction: VCR, L-ASP, DEX, or PRED +/- Daunorubicin

Consolidation: Daunorubicin , HD ARA-C, VCR, Etoposide, TG or 6-MP, cyclophosphamide, L-ASP

CNS prophylaxis: with intrathecal MTX or ARA-C

Maintenance: 6-MO, MTX, prednisone

7

t(12, 21)

Dx:
Protein:
Class of mutation:
Prognosis:
Epidemiology:
Tx:

B-ALL
TEL-AML (sometimes also has pax5 del)
Class II
Good
kids

Induction: VCR, L-ASP, DEX, or PRED +/- Daunorubicin

Consolidation: Daunorubicin , HD ARA-C, VCR, Etoposide, TG or 6-MP, cyclophosphamide, L-ASP

CNS prophylaxis: with intrathecal MTX or ARA-C

Maintenance: 6-MO, MTX, prednisone

8

t(14, 18)

follicular lymphoma
Bcl2-IgH promoter

9

t(14, 18) + Bcl-6

DLBL

10

t(8, 14)

Dx:
Protein:
Epidemiology:

Burkitts
c-myc rearragement
Kids (think africa), EBV transformation

11

t(2, 8)

Dx:
Protein:

Burkitts
C-MYC rearragement
Kids (think africa), EBV transformation

12

t(8, 22)

Dx:
Protein:

Burkitts
C-MYC rearragement
Kids (think africa), EBV transformation

13

FIP1 translocation or cKIT mutation

Dx:
Epidemiology:
Signs/Symptoms:
Cell morphology:

mastocytosis

kids?

benign cutaneous lesions (uticaria pigmentosa) --> spreads beyond the skin and causes flushing, hypotension, tachycardia, abdominal pain

"bland looking" cells that round, or spindle shape, sometimes with eosinophils

14

t(1, 19)

Dx:
Protein:
Epidemiology:
Prognosis:
Tx:

ALL
E2A-PBX
Kids
Good

Induction: VCR, L-ASP, DEX, or PRED +/- Daunorubicin

Consolidation: Daunorubicin , HD ARA-C, VCR, Etoposide, TG or 6-MP, cyclophosphamide, L-ASP

CNS prophylaxis: with intrathecal MTX or ARA-C

Maintenance: 6-MO, MTX, prednisone

15

Pax5 oncogene

memory B cell malignancy (mantle zone)

16

C-MAF and Cyclin D oncogenes

plasma cell malignancy (peri-follicular)

17

del11, 13, 17

Dx:
epidemiology:
Cell morphology
LN morphology

CLL
older males
smudge cells
pseudofollicular with loss of normal architecture

18

Trisomy 12

CLL

19

t(11; 14)

Dx:
Genetic abnormality:
Cell morphology:
LN morphology:

Mantle Cell lymphoma
Cyclin D1 overexpressed
smudge cells
homogenous starry sky

20

t(4; 14)

Dx:
protein:
epidemiology:
Signs/Symptoms:

plasma cell neoplasm
FGFR3
elderly
mild disease: asymptomatic, MUGS, inc total protein
severe disease--> MM: lytic bone lesions, fractures/pain, renal failure

21

t(14, 16)

Dx:
Protein:
epidemiology:
Signs/Symptoms:

plasma cell neoplasm
C-MAF
elderly
mild disease: asymptomatic, MUGS, inc total protein
severe disease--> MM: lytic bone lesions, fractures/pain, renal failure

22

t(14, 20)

Dx:
Protein:
epidemiology:
Signs/symptoms:
Tx:

plasma cell neoplasm
MAFB
elderly
mild disease: asymptomatic, MUGS, inc total protein
severe disease--> MM: lytic bone lesions, fractures/pain, renal failure

23

t(14, 18)

Dx:
Fusion Protein:
Epidemiology:
LN morphology:
prognosis:

follicular lymphoma and DLBL

Bcl2-IgH

Follicular: Adults DLBL: adults a/o kids

Follicular LN morph = many follicules that lack polarity, mitotic figures, and macrophages

more, bigger cells = bad

24

t(v, 3q27)

DLBL

25

t(2; 5)

Dx:
Protein:
prognosis:

anaplastic large cell lymphoma
ALK-NPM
Good (best lymphoma to get)

26

Jak2 with fibrosis of BM

Dx:
Epidemiology:
Pathogenesis
Signs/Symptoms
Cell Morphology
Tx:

PMF
65 y/o 1:1 M to F
Megs--> cytokines--> Fibroblasts --> type III collagen in BM

dragging LUQ, speno and hepatomegaly, peripheral edema, neutrophillic dermatosis, portal hypertension,osteosclerosis, weight loss

Tear drops in PBS, strange Megs, basophillia

Androgens, procrit, hydroxyurea, thalidomide, lenalidomide
**del5q may achieve remission
**radiation for spleen, bone pain, extramedulalry tumors