Difference between revisions of "Chromosomal translocations"

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==List of translocations==
==List of translocations==
===Soft tissue table===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour'''
| '''Translocation(s)'''
| '''Genes'''
| '''Reference'''
|-
| [[Ewing sarcoma]]/PNET
| t(11;22)
| FLI1-EWS
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
| Myxoid liposarcoma, round-cell type liposarcoma
| t(12;16)
| CHOP-TLS
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref><ref>{{cite journal |author=Antonescu CR, Tschernyavsky SJ, Decuseara R, ''et al.'' |title=Prognostic impact of P53 status, TLS-CHOP fusion transcript structure, and histological grade in myxoid liposarcoma: a molecular and clinicopathologic study of 82 cases |journal=Clin. Cancer Res. |volume=7 |issue=12 |pages=3977–87 |year=2001 |month=December |pmid=11751490 |doi= |url=}}</ref>
|-
| [[Synovial sarcoma]]
| t(X;18)
| SYT-SSX
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
| [[Alveolar rhabdomyosarcoma]]
| t(1;13), t(2,13)
| PAX7-FKHR, PAX3-FKHR
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
| Extraskeletal myxoid [[chondrosarcoma]]
| t(9;22)
| CHN-EWS
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
| [[Desmoplastic small round cell tumour]]
| t(11;22)
| EWS-WT1
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
| [[Clear cell sarcoma
| t(12;22)
| EWS-ATF1
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
| [[Dermatofibrosarcoma protuberans]]
| t(17;22)
| COLA1-PDGFB
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
| [[Alveolar soft part sarcoma]]
| t(X;17)
| TFE3-ASPL
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
| Congenital fibrosarcoma
| t(12;15)
| ETV6-NTRK3
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|}


{| class="wikitable"
===Paediatric table===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Translocation'''
| '''Translocation'''
| '''Genes'''
| '''Genes'''

Revision as of 13:04, 6 April 2011

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
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.
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