Chromosomal translocations
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Chromosomal translocations, also translocations, may be characteristic of a tumour or simply narrow down the diagnosis to a set of tumours.
Key point
The key point is:
- One should be aware of the existence of specific (i.e. diagnostic/near diagnostic) translocations and translocations which significantly narrow down the diagnosis -- which are available to (clinical) pathologists.
Unfortunate reality of residency
Translocations are often a subject of pimping and show-up on examinations.
List of translocations
Soft tissue table
| Tumour | Translocation(s) | Genes | Reference(s) |
| Ewing sarcoma/PNET | t(11;22) | FLI1-EWS | [1] |
| Myxoid liposarcoma, round-cell type liposarcoma | t(12;16) | CHOP-TLS | [1][2] |
| Synovial sarcoma | t(X;18) | SYT-SSX | [1] |
| Alveolar rhabdomyosarcoma | t(1;13) t(2,13) |
PAX7-FKHR PAX3-FKHR |
[1] |
| Extraskeletal myxoid chondrosarcoma | t(9;22) | CHN-EWS | [1] |
| Desmoplastic small round cell tumour | t(11;22) | EWS-WT1 | [1] |
| Clear cell sarcoma | t(12;22) | EWS-ATF1 | [1] |
| Dermatofibrosarcoma protuberans | t(17;22) | COLA1-PDGFB | [1] |
| Alveolar soft part sarcoma | t(X;17) | TFE3-ASPL | [1] |
| Congenital fibrosarcoma | t(12;15) | ETV6-NTRK3 | [1] |
Paediatric table
| Translocation | Genes | Tumour(s) | Reference |
| t(12;16) | FUS/ATF1 | angiomatoid fibrous histiocytoma | [3] |
| t(12;22) | EWS/ATF1 | angiomatoid fibrous histiocytoma | [3] |
| t(12;16) | EWS/CHOP | myxoid liposarcoma | [3] |
| t(16;22) | EWS/ATF1 | myxoid liposarcoma | [3] |
| t(12;22) | EWS/ATF1 | clear cell sarcoma | [3] |
| t(21;22) | EWS/ATF1 | Ewing sarcoma | [3] |
| t(12;21) | FUS/ERG | Ewing sarcoma | [3] |
| t(12;21) | FUS/ERG | acute myeloid leukemia | [3] |
See also
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1249. ISBN 978-1416031215.
- ↑ Antonescu CR, Tschernyavsky SJ, Decuseara R, et al. (December 2001). "Prognostic impact of P53 status, TLS-CHOP fusion transcript structure, and histological grade in myxoid liposarcoma: a molecular and clinicopathologic study of 82 cases". Clin. Cancer Res. 7 (12): 3977–87. PMID 11751490.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 PST. 14 February 2011.