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.

A fusion signal (yellow - left/top of image) suggesting a BCR-ABL translocation. FISH. (WC/Pmx)

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]

Notes:

  • TLS (Translocated in LipoSarcoma), on chromosome 16, is the old name for FUS (FUsed in Sarcoma).[5]

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]
Memory device: EWS EDC.

Lymphoma

Tumour Translocation(s) Genes Reference(s)
Follicular lymphoma t(14,18) IGH-BCL2 [6]
Mantle cell lymphoma t(11;14) IGH-CCND1 [7]
Burkitt lymphoma t(8;14) MYC-IGH (IGH-MYC) [8]

Leukemia

Tumour Translocation(s) Genes Reference(s)
Chronic myelogenous leukemia t(9;22) BCR-ABL [9]
Acute promyelocytic leukemia (APL) t(15;17) PML-RARA [10][11][12]

Renal tumours

Tumour Translocation(s) Genes Reference(s)
Renal tumour with Xp11.2 translocation ASPL-TFE (???) t(X;1) [13][14]
Renal tumour with t(6;11) translocation Alpha-TFEB t(6;11) [13]

Prostate cancer

Tumour Translocation(s) Genes Reference(s)
Prostate cancer TMPRSS2-ERG t(21;21) [15][16]

Uterine tumours

Tumour Translocation(s) Genes Reference(s)
Endometrial stromal sarcoma JAZF1-SUZ12 t(7;17) [17][18]

Paediatric table

Tumour(s) Translocation Genes Reference
Angiomatoid fibrous histiocytoma t(12;16) FUS-ATF1 [19][20][21]
Angiomatoid fibrous histiocytoma t(12;22) EWS-ATF1 [19][21]
Myxoid liposarcoma t(12;16) CHOP-TLS [22]
Myxoid liposarcoma t(12;22) EWS-ATF1 [19][23]
Clear cell sarcoma t(12;22) EWS-ATF1 [19]
Ewing sarcoma t(21;22) EWS-ERG [24]
Ewing sarcoma t(16;21) FUS-ERG [25]
Acute myeloid leukemia t(16;21) FUS-ERG [25]

Notes:

  • TLS (Translocated in LipoSarcoma), on chromosome 16, is the old name for FUS (FUsed in Sarcoma).[5]

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 Online 'Mendelian Inheritance in Man' (OMIM) 137070
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 102578
  12. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 180240
  13. ↑ 13.0 13.1 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.
  14. ↑ 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.
  15. ↑ Yu J, Yu J, Mani RS, Cao Q, Brenner CJ, Cao X, Wang X, Wu L, Li J, Hu M, Gong Y, Cheng H, Laxman B, Vellaichamy A, Shankar S, Li Y, Dhanasekaran SM, Morey R, Barrette T, Lonigro RJ, Tomlins SA, Varambally S, Qin ZS, Chinnaiyan AM (May 2010). "An Integrated Network of Androgen Receptor, Polycomb, and TMPRSS2-ERG Gene Fusions in Prostate Cancer Progression". Cancer Cell 17 (5): 443–54. doi:10.1016/j.ccr.2010.03.018. PMC 2874722. PMID 20478527. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874722/.
  16. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 602060
  17. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 606246
  18. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 606245
  19. ↑ 19.0 19.1 19.2 19.3 PST. 14 February 2011.
  20. ↑ URL: https://iris.ucl.ac.uk/research/browse/show-publication?pub_id=238366&source_id=2. Accessed on: 13 December 2011.
  21. ↑ 21.0 21.1 Thway, K. (Feb 2008). "Angiomatoid fibrous histiocytoma: a review with recent genetic findings.". Arch Pathol Lab Med 132 (2): 273-7. doi:10.1043/1543-2165(2008)132[273:AFHARW]2.0.CO;2. PMID 18251589.
  22. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 613488
  23. ↑ Suzuki, K.; Matsui, Y.; Endo, K.; Kubo, T.; Hasegawa, T.; Kimura, T.; Ohtani, O.; Yasui, N. (Nov 2010). "Myxoid liposarcoma with EWS-CHOP type 1 fusion gene.". Anticancer Res 30 (11): 4679-83. PMID 21115923.
  24. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 165080
  25. ↑ 25.0 25.1 Ichikawa, H.; Shimizu, K.; Hayashi, Y.; Ohki, M. (Jun 1994). "An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation.". Cancer Res 54 (11): 2865-8. PMID 8187069.

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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