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]

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. 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. 2.0 2.1 Online 'Mendelian Inheritance in Man' (OMIM) 133450
  3. 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.
  4. Online 'Mendelian Inheritance in Man' (OMIM) 613488
  5. 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.