Appendix II
Table 1. Frequent gene fusions caused by chromosomal abnormalities associated with
malignant myeloid diseases.*
|
Chromosome abnormality
|
Disease
|
Frequency§
|
Fusion gene¨
|
|
t(9;22)(q34;q11.2)
|
CML
|
~ 98%
|
|
|
t(8;21)(q22;q22)
|
AML-M2
|
18% (30%)
|
AML1-ETO
|
|
t(15;17)(q22-q11.2-12)
|
AML-M3
|
|
PML-RARa
|
|
t(11;17)(q23;q21)
|
AML-M3
|
Rare
|
PLZF-RARa
|
|
inv(16) or t(16;16)
|
AML-M4Eo
|
8% (~100%)
|
CBFb-MYH11
|
|
t(9;11)(p22;q23)
|
AML-M4
|
11% (30%)
|
MLL-AF9
|
|
t(6;11)
t(10;11)
t(11;17)
t(11;19)
t(4;11)
|
AML-M5
|
11q23 abnormalities are detected
in ~ 35% of all AML-M5
|
MLL-AF6/AF6q21
MLL-AF10; CALM-AF10
MLL-AF17/AF17q25
MLL-ENL/ENL/EEN
MLL-AF4
|
|
t(6;9)(p23;q34)
|
AML –M1, M2, M4, M5
|
1%
|
DEK-CAN
|
|
t(16;21)(p11;q22)
|
AML
|
< 1%
|
TLS(FUS)-ERG
|
|
t(16;21)(q24;q22)
|
t-AML, MDS
|
< 1%
|
AML1-MTG16
|
|
t(3;21)
|
AML
|
< 1%
|
AML1-EVI1
AML1-EAP
AML1-MDS1
|
|
t(7;11)(p15;p15)
t(1;11)(q23;p15)
|
AML-M2, M4
AML-M2
|
< 1%
|
NUP98-HOXA9
NUP98-PMX1
|
|
t(8;16)(p11;p13.3)
|
AML-M4, M5
|
< 1%
|
MOZ-CBP
|
|
inv(8)(p11q13)
|
AML-M0, M1, M5
|
< 1%
|
MOZ-TIF2
|
|
t(8;22)(p11;p13)
|
AML-M5
|
< 1%
|
MOZ-p300
|
|
t(12;22)(p12;q23)
|
AML-M4, CML
|
< 1%
|
TEL-MN1
|
|
t(5;12)(q33;p12)
|
CMMoL
|
2-5%
|
TEL- PDGFRb
|
|
t(1;19)(q23;p13)
|
AML-M7
|
<1%
|
OTT-MAL
|
*Modified from
§
The percentage refers to the frequency of the translocations within the disease overall.
The values within parentheses refer to the frequency within the morphologic or immunologic
subtype of the disease. n.a.= not apply. Abbreviations: chronic myelogenous leukemia, CML;
acute myelogenous leukemia, AML; therapy-related AML, t-AML; myelodysplastic syndrome, MDS;
chronic myelomonocytic leukemia, CMMoL.
|
|
|
Table 2. Frequent gene fusions caused
by chromosomal abnormalities associated with malignant lymphoid diseases.*
|
Chromosome abnormality
|
Disease
|
Frequency §
|
Fusion gene
|
|
|
t(1;19)(q23;p13.3)
|
Pre-B ALL
|
6% (30%)
|
E2A-PBX1
|
|
|
t(17;19)(q22;p13.3)
|
Pro-B ALL
|
1%
|
E2A-HLF
|
|
|
t(12;21)(p12;q22)
|
Pre-B ALL
|
25%
|
TEL-AML1
|
|
|
t(9;22)(q34;q11.2)
|
ALL
|
~5% of childhood ALL; 30% of
adult B-ALL
|
BCR-ABL
|
|
|
t(4;11)(q21;q23)
t(9;11)(p22;q23)
t(11;19)(q23;p13.3)
t(X;11)(q13;q23)
t(1;11)(p32;q23)
t(6;11)(q27;q23)
|
Pre-B ALL
Pre-B ALL
Pre-B ALL, T-ALL
T-ALL
ALL
ALL
|
5%
<1%
1%
< 1%
< 1%
< 1%
|
MLL-AF4
MLL-AF9
MLL-ENL
MLL-AFX1
MLL-AFP1
MLL-AF6
|
|
|
|
|
|
|
inv(2;2)(p13;p11-14)
|
NHL
|
< 1%
|
REL/NGR
|
|
|
t(2;5(2p23;q35)
|
Lymphoma ALCL
|
75%
|
NPM-ALK
|
|
|
t(3;14)
|
DLCL
Follicular Lymphomas
|
~ 30%
~ 10%
|
IG-BCL6
|
|
|
t(4;16)
|
T-lymphoma
|
< 1%
|
BCM-IL2
|
|
*Modified form
§
The percentage refers to the frequency of the translocations within the disease
overall. The values within parentheses refer to the frequency within the
morphologic or immunologic subtype of the disease. n.a.= not apply.
Abbreviations: acute lymphoblastic leukemia, ALL; Non-Hodgkin lymphoma, NHL;
Anaplastic large cell lymphoma, ALCL; Diffuse large B-cell lymphomas, DLCL.
|
|
|
