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Gene Translocations In Soft Tissue Tumors |
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Uploaded: 2007-12-07, Updated: 2007-12-07 |
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Tumor |
Translocation |
Fused Gene |
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Alveolar rhabdomyosarcoma |
t(2;13)(q35;q14) |
65% |
PAX3-FKHR |
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t(1;13)(p36;q14) |
15% |
PAX7-FKHR |
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Alveolar soft part sarcoma |
t(X;17)(p11;q25) |
>95% |
ASPL-TFE3 |
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Clear cell sarcoma |
t(12;22)(q13;q12) |
>90% |
EWS-ATF1 |
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t(2;22)(q33;q12) |
EWS-CREB1 |
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Dermatofibrosarcoma protuberans |
t(17;22)(q21;q13) |
>90% |
COL1A1-PDGFB |
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Desmoplastic small round cell tumor |
t(11;22)(p13;q12) |
>95% |
EWS-WT1 |
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Extraskeletal myxoid chondrosarcoma |
t(9;22)(q22-q3;q12) |
75% |
EWS-NR4A3 |
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t(9;17)(q22:q11) |
25% |
TAF15-NR4A3 |
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Ewing sarcoma/PNET |
t(11;22)(q24;q12) |
90% |
EWS-FLI1 |
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t(21;22)(q22;q12) |
5% |
EWS-ERG |
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Fibromyxoid sarcoma (low-grade) |
t(7;16)(q33;p11.2) |
>95% |
FUS-CREB3L2 |
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t(11;16)(p13;p11.2) |
<5% |
FUS-CREB3L1 |
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Infantile fibrosarcoma |
t(12;15)(p13;q26) |
>95% |
ETV6-NTRK3 |
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Inflammatory myofibroblastic tumor |
t with 2p23 |
>50% |
ALK fusions |
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Myxoid/round cell liposarcoma |
t(12;16)(q13;p11) |
>95% |
FUS-CHOP |
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t(12;22)(q13;q11) |
<5% |
EWS-CHOP |
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Synovial sarcoma |
t(X;18)(p11.2;q11.2) |
65% |
SYT-SSX1 |
| 35% |
SYT-SSX2 |
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| <1% |
SYT-SSX4 |
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| List of Genes Involved in Translocation | ||
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Gene |
Aliases |
Location |
Function |
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ALK |
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2p23 |
Membrane associated tyrosine kinase receptor; probable role in the nervous system development. |
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ASPL |
ASPSCR1 |
17q25 |
Contains an UBX domain, may be related to the ubiquitylation pathway |
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ATF1 |
TREB36 |
12q13 |
DNA binding protein, members of the CREB protein family |
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CHOP |
DDIT3 |
12q13.1-q13.2 |
Belongs to the C/EBP family of transcription factors |
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COL1A1 |
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17q21.31-q22 |
Member of the collagen family |
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CREB3L2 |
BBF2H7 |
7q34 |
B-ZIP transcription factor |
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ETV6 |
TEL |
12p13.1 |
Transcriptional regulator; important in vitelline angiogenesis and in bone marrow hematopoiesis |
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EWSR1 |
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22q12 |
RNA binding |
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FKHR |
FOXO1 |
13q14.1 |
N/D |
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FLI1 |
EWSR2 |
11q24.1-q24.3 |
N/D |
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FUS |
TLS |
16p11.2 |
RNA-binding protein, may play role in the BCR/ABL-mediated leukemogenesis. |
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NR4A3 |
TEC |
9q22 |
Orphan nuclear receptor, roles in cell proliferation, steroid/thyroid receptor super family. |
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NTRK3 |
TrkC |
15q25 |
Tyrosine kinase cell surface receptor, proliferation and differentiation of neural derived cells |
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PAX3 |
CDHS |
2q35-2q36.1 |
Transcription factor, role in the development of the neuroskeletal structures |
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PAX7 |
HUP1 |
1p36.2-p36.12 |
N/D |
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PDGFB |
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22q12.3-q13.1 |
Member of the PDGF/VEGF family, potent growth factor. |
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SSX1 |
SSRC |
Xp11.23-p11.22 |
N/D |
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SSX2 |
SSX |
Xp11.23-p11.22 |
N/D |
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SYT |
SS18 |
18q11.2 |
Transcriptional coactivator. |
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TFE3 |
ITF |
21q22.3 |
Promotes migration of epithelial cells and enhance mucosal healing and epithelial restitutions. |
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WT1 |
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11p13 |
Zinc finger transcription factor. |
| REFERENCES | ||
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