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. 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.
  2. 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. 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 PST. 14 February 2011.