Difference between revisions of "Chromosomal translocations"

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| PML-RARA
| PML-RARA
| <ref name=pmid20306254>{{Cite journal  | last1 = Grimwade | first1 = D. | last2 = Mistry | first2 = AR. | last3 = Solomon | first3 = E. | last4 = Guidez | first4 = F. | title = Acute promyelocytic leukemia: a paradigm for differentiation therapy. | journal = Cancer Treat Res | volume = 145 | issue =  | pages = 219-35 | month =  | year = 2010 | doi = 10.1007/978-0-387-69259-3_13 | PMID = 20306254 }}</ref>
| <ref name=pmid20306254>{{Cite journal  | last1 = Grimwade | first1 = D. | last2 = Mistry | first2 = AR. | last3 = Solomon | first3 = E. | last4 = Guidez | first4 = F. | title = Acute promyelocytic leukemia: a paradigm for differentiation therapy. | journal = Cancer Treat Res | volume = 145 | issue =  | pages = 219-35 | month =  | year = 2010 | doi = 10.1007/978-0-387-69259-3_13 | PMID = 20306254 }}</ref>
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| genes (???)
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===Renal tumours===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour'''
| '''Translocation(s)'''
| '''Genes'''
| '''Reference(s)'''
|-
| [[Renal tumour with Xp11.2 translocation]]
| ASPL-TFE (???)
| t(X;1)
| <ref name=Ref_WMSP281>{{Ref WMSP|281}}</ref><ref name=Ref_WMSP285>{{Ref WMSP|285}}</ref>
|-
| [[Renal tumour with t(6;11) translocation]]
| Alpha-TFEB
| t(6;11)
| <ref name=Ref_WMSP281>{{Ref WMSP|281}}</ref>
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Revision as of 21:31, 1 October 2011

Chromosomal translocations, also translocations, may be characteristic of a tumour or simply narrow down the diagnosis to a set of tumours.

They fall into the category of molecular pathology.

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 (infantile fibrosarcoma), cellular mesoblastic nephroma 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 t(14,18) IGH-BCL2 [5]
Mantle cell lymphoma t(11;14) IGH-CCND1 [6]
Burkitt lymphoma t(8;14) MYC-IGH (IGH-MYC) [7]

Leukemia

Tumour Translocation(s) Genes Reference(s)
Chronic myelogenous leukemia t(9;22) BCR-ABL [8]
Acute promyelocytic leukemia (APL) t(15;17) PML-RARA [9]

Renal tumours

Tumour Translocation(s) Genes Reference(s)
Renal tumour with Xp11.2 translocation ASPL-TFE (???) t(X;1) [10][11]
Renal tumour with t(6;11) translocation Alpha-TFEB t(6;11) [10]

Paediatric table

Translocation Genes Tumour(s) Reference
t(12;16) FUS/ATF1 angiomatoid fibrous histiocytoma [12]
t(12;22) EWS/ATF1 angiomatoid fibrous histiocytoma [12]
t(12;16) EWS/CHOP myxoid liposarcoma [12]
t(16;22) EWS/ATF1 myxoid liposarcoma [12]
t(12;22) EWS/ATF1 clear cell sarcoma [12]
t(21;22) EWS/ATF1 Ewing sarcoma [12]
t(12;21) FUS/ERG Ewing sarcoma [12]
t(12;21) FUS/ERG acute myeloid leukemia [12]

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. ↑ 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.
  6. ↑ Li, JY.; Gaillard, F.; Moreau, A.; Harousseau, JL.; Laboisse, C.; Milpied, N.; Bataille, R.; Avet-Loiseau, H. (May 1999). "Detection of translocation t(11;14)(q13;q32) in mantle cell lymphoma by fluorescence in situ hybridization.". Am J Pathol 154 (5): 1449-52. doi:10.1016/S0002-9440(10)65399-0. PMID 10329598.
  7. ↑ Perkins, AS.; Friedberg, JW. (2008). "Burkitt lymphoma in adults.". Hematology Am Soc Hematol Educ Program: 341-8. doi:10.1182/asheducation-2008.1.341. PMID 19074108.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 10.0 10.1 Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 281. ISBN 978-0781765275.
  11. ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 285. ISBN 978-0781765275.
  12. ↑ 12.0 12.1 12.2 12.3 12.4 12.5 12.6 12.7 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.

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