Chromosomal translocations
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][2] |
| Myxoid liposarcoma, round-cell type liposarcoma | t(12;16) | CHOP-TLS | [1][3][4] |
| 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] |
EWS associated
| Tumour | Translocation(s) | Genes | Reference(s) |
| Ewing sarcoma/PNET | t(11;22) | FLI1-EWS | [1][2] |
| 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] |
Paediatric table
| Translocation | Genes | Tumour(s) | Reference |
| t(12;16) | FUS/ATF1 | angiomatoid fibrous histiocytoma | [5] |
| t(12;22) | EWS/ATF1 | angiomatoid fibrous histiocytoma | [5] |
| t(12;16) | EWS/CHOP | myxoid liposarcoma | [5] |
| t(16;22) | EWS/ATF1 | myxoid liposarcoma | [5] |
| t(12;22) | EWS/ATF1 | clear cell sarcoma | [5] |
| t(21;22) | EWS/ATF1 | Ewing sarcoma | [5] |
| t(12;21) | FUS/ERG | Ewing sarcoma | [5] |
| t(12;21) | FUS/ERG | acute myeloid leukemia | [5] |
Lymphoma
| Tumour | Translocation(s) | Genes | Reference(s) |
| Follicular lymphoma | genes ??? | t(14,18) | reference ??? |
| Mantle cell lymphoma | genes ??? | t(11;14) | reference ??? |
| Burkitt lymphoma | genes ??? | t(8;14) | reference ??? |
Leukemia
| Tumour | Translocation(s) | Genes | Reference(s) |
| Chronic myelogenous leukemia | BCR-ABL (???) | t(9;22) | reference (???) |
| Acute promyelocytic leukemia (APL) | PML-RARA (???) | t(15;17) | reference (???) |
See also
References
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 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.
- ↑ 2.0 2.1 Online 'Mendelian Inheritance in Man' (OMIM) 133450
- ↑ 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 613488
- ↑ 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 PST. 14 February 2011.
Further reading
Rowley JD (September 2008). "Chromosomal translocations: revisited yet again". Blood 112 (6): 2183–9. doi:10.1182/blood-2008-04-097931. PMID 18779403. http://bloodjournal.hematologylibrary.org/content/112/6/2183.full.