Rekurrente Translokationen
Sarkome
| Entität | Gen | Chromosom | Häufigkeit | OMIM Gene/Locus | OMIM Phenotyp |
|---|---|---|---|---|---|
| Alveoläres Weichteilsarkom | ASPL-TFE3 | t(X;17) | >90% | 606236 | 606243 |
| Chondrosarkom, extraskelletal myxoid | EWSR-NR4A3 TAF15-NR4A3 |
t(9;22) t(9;17) |
70% 20% |
133450 601574 |
612237 |
| Chondrosarkom, mesenchymal | HEY1-NCOA2 | t(8;8) | 80% | ||
| Dermatofibroma protuberans (DFSP) | COL1A1-PDGFB | t(17;22) | >90% | 190040 | 607907 |
| Desmoplastic Small Blue Round Cell Tumor (DSRCT) | EWSR-WT1 | t(11;22) | 99% | ||
| Ewing-Sarkom | EWS-FLI1 EWS-ERG EWS-others |
t(11;22) t(21;22) |
90% 5% |
13345 | 612219 |
| Fibrosarkom, infantil | ETV6-NTRK3 | t(12;15) | 90% | 600618 | |
| Gastrointestinaler Stromatumor (GIST) | c-kit PDGFRA |
80% 5% |
164920 173490 |
606764 175510 |
|
| Hämangioendotheliom, epitheloid | WWTR1-CAMTA1 YAP1-TFE3 |
t(1;3) t(X;11) |
>90% <10% |
607392 / 611501 606608 / 314310 |
|
| Klarzellsarkom | EWSR1-ATF1 EWSR1-CREB1 |
t(12;22) t(2;22) |
50% 25% |
133450 | |
| Liposarkom, myxoid/Rundzell-L. | FUS-DDIT3(CHOP) EWSR1-DDIT3 |
t(12;16) t(12;22) |
>90% selten |
126337 | 613488 |
| Liposarkom, gut-/dedifferenziert | MDM2-, HMGA2-, CDK4-Amplifikation |
Ring-Chromosom 12 | 80% | 164785 600698 123829 |
|
| Noduläre Fasziitis | MYH9-USP6 | t(17;22) | 90% | 604334 | |
| Rhabdomyosarkom, alveolär | PAX3-FOXO1 PAX7-FOXO1 |
t(2;13) t(1;13) |
60% 20% |
136533 | 268220 |
| Rhabdomyosarkom, embryonal | del(11p15) | 602631 | 268210 | ||
| Solitär fibröser Tumor (SFT) | NAB2-STAT6 | inv(12) | >90% | 601512 | |
| Synovialsarkom | SS18(SYT)-SSX1 SS18(SYT)-SSX2 |
t(X;18) t(X;18) |
60% 35% |
312820 300192 |
300813 |