Translocations with Disease Info

Question 1

t(9; 22)

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

Answer 1

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

Question 2

t(8, 21)

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

Answer 2

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

Question 3

t(15, 17)

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

Answer 3

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

Question 4

inv(16)

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

Answer 4

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

Question 5

del5q

Dx:
Tx:

Answer 5

MDS

Lenalidomide

Question 6

t(v, 11q23)

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

Answer 6

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

Question 7

t(12, 21)

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

Answer 7

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

Question 8

t(14, 18)

Answer 8

follicular lymphoma

Bcl2-IgH promoter

Question 9

t(14, 18) + Bcl-6

Answer 9

DLBL

Question 10

t(8, 14)

Dx:
Protein:
Epidemiology:

Answer 10

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

Question 11

t(2, 8)

Dx:
Protein:

Answer 11

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

Question 12

t(8, 22)

Dx:
Protein:

Answer 12

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

Question 13

FIP1 translocation or cKIT mutation

Dx:
Epidemiology:
Signs/Symptoms:
Cell morphology:

Answer 13

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

Question 14

t(1, 19)

Dx:
Protein:
Epidemiology:
Prognosis:
Tx:

Answer 14

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

Question 15

Pax5 oncogene

Answer 15

memory B cell malignancy (mantle zone)

Question 16

C-MAF and Cyclin D oncogenes

Answer 16

plasma cell malignancy (peri-follicular)

Question 17

del11, 13, 17

Dx:
epidemiology:
Cell morphology
LN morphology

Answer 17

CLL
older males
smudge cells
pseudofollicular with loss of normal architecture

Question 18

Trisomy 12

Answer 18

CLL

Question 19

t(11; 14)

Dx:
Genetic abnormality:
Cell morphology:
LN morphology:

Answer 19

Mantle Cell lymphoma
Cyclin D1 overexpressed
smudge cells
homogenous starry sky

Question 20

t(4; 14)

Dx:
protein:
epidemiology:
Signs/Symptoms:

Answer 20

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

Question 21

t(14, 16)

Dx:
Protein:
epidemiology:
Signs/Symptoms:

Answer 21

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

Question 22

t(14, 20)

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

Answer 22

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

Question 23

t(14, 18)

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

Answer 23

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

Question 24

t(v, 3q27)

Answer 24

DLBL

Question 25

t(2; 5)

Dx:
Protein:
prognosis:

Answer 25

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

Question 26

Jak2 with fibrosis of BM

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

Answer 26

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