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][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] |
Lymphoma
| Tumour | Translocation(s) | Genes | Reference(s) |
| Follicular lymphoma | IGH-BCL2 | t(14,18) | [5] |
| 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) | [6] |
| Acute promyelocytic leukemia (APL) | PML-RARA | t(15;17) | [7] |
Paediatric table
| Translocation | Genes | Tumour(s) | Reference |
| t(12;16) | FUS/ATF1 | angiomatoid fibrous histiocytoma | [8] |
| t(12;22) | EWS/ATF1 | angiomatoid fibrous histiocytoma | [8] |
| t(12;16) | EWS/CHOP | myxoid liposarcoma | [8] |
| t(16;22) | EWS/ATF1 | myxoid liposarcoma | [8] |
| t(12;22) | EWS/ATF1 | clear cell sarcoma | [8] |
| t(21;22) | EWS/ATF1 | Ewing sarcoma | [8] |
| t(12;21) | FUS/ERG | Ewing sarcoma | [8] |
| t(12;21) | FUS/ERG | acute myeloid leukemia | [8] |
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
- ↑ Gu, K.; Chan, WC.; Hawley, RC. (Aug 2008). "Practical detection of t(14;18)(IgH/BCL2) in follicular lymphoma.". Arch Pathol Lab Med 132 (8): 1355-61. doi:10.1043/1543-2165(2008)132[1355:PDOBIF]2.0.CO;2. PMID 18684042.
- ↑ Cilloni, D.; Saglio, G. (Sep 2009). "CML: a model for targeted therapy.". Best Pract Res Clin Haematol 22 (3): 285-94. doi:10.1016/j.beha.2009.04.004. PMID 19959080.
- ↑ Grimwade, D.; Mistry, AR.; Solomon, E.; Guidez, F. (2010). "Acute promyelocytic leukemia: a paradigm for differentiation therapy.". Cancer Treat Res 145: 219-35. doi:10.1007/978-0-387-69259-3_13. PMID 20306254.
- ↑ 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 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.