Difference between revisions of "Chromosomal translocations"
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| '''Reference(s)''' | | '''Reference(s)''' | ||
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| Follicular lymphoma | | [[Follicular lymphoma]] | ||
| t(14,18) | | t(14,18) | ||
| IGH-BCL2 | | IGH-BCL2 | ||
| <ref name=pmid18684042>{{Cite journal | last1 = Gu | first1 = K. | last2 = Chan | first2 = WC. | last3 = Hawley | first3 = RC. | title = Practical detection of t(14;18)(IgH/BCL2) in follicular lymphoma. | journal = Arch Pathol Lab Med | volume = 132 | issue = 8 | pages = 1355-61 | month = Aug | year = 2008 | doi = 10.1043/1543-2165(2008)132[1355:PDOBIF]2.0.CO;2 | PMID = 18684042 }}</ref> | | <ref name=pmid18684042>{{Cite journal | last1 = Gu | first1 = K. | last2 = Chan | first2 = WC. | last3 = Hawley | first3 = RC. | title = Practical detection of t(14;18)(IgH/BCL2) in follicular lymphoma. | journal = Arch Pathol Lab Med | volume = 132 | issue = 8 | pages = 1355-61 | month = Aug | year = 2008 | doi = 10.1043/1543-2165(2008)132[1355:PDOBIF]2.0.CO;2 | PMID = 18684042 }}</ref> | ||
|- | |- | ||
| Mantle cell lymphoma | | [[Mantle cell lymphoma]] | ||
| t(11;14) | | t(11;14) | ||
| IGH-CCND1 | | IGH-CCND1 | ||
| <ref>{{Cite journal | last1 = Li | first1 = JY. | last2 = Gaillard | first2 = F. | last3 = Moreau | first3 = A. | last4 = Harousseau | first4 = JL. | last5 = Laboisse | first5 = C. | last6 = Milpied | first6 = N. | last7 = Bataille | first7 = R. | last8 = Avet-Loiseau | first8 = H. | title = Detection of translocation t(11;14)(q13;q32) in mantle cell lymphoma by fluorescence in situ hybridization. | journal = Am J Pathol | volume = 154 | issue = 5 | pages = 1449-52 | month = May | year = 1999 | doi = 10.1016/S0002-9440(10)65399-0 | PMID = 10329598 }}</ref> | | <ref>{{Cite journal | last1 = Li | first1 = JY. | last2 = Gaillard | first2 = F. | last3 = Moreau | first3 = A. | last4 = Harousseau | first4 = JL. | last5 = Laboisse | first5 = C. | last6 = Milpied | first6 = N. | last7 = Bataille | first7 = R. | last8 = Avet-Loiseau | first8 = H. | title = Detection of translocation t(11;14)(q13;q32) in mantle cell lymphoma by fluorescence in situ hybridization. | journal = Am J Pathol | volume = 154 | issue = 5 | pages = 1449-52 | month = May | year = 1999 | doi = 10.1016/S0002-9440(10)65399-0 | PMID = 10329598 }}</ref> | ||
|- | |- | ||
| Burkitt lymphoma | | [[Burkitt lymphoma]] | ||
| t(8;14) | | t(8;14) | ||
| MYC-IGH (IGH-MYC) | | MYC-IGH (IGH-MYC) | ||
Revision as of 21:36, 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
- ↑ 1.00 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.
- ↑ 2.0 2.1 Online 'Mendelian Inheritance in Man' (OMIM) 133450
- ↑ 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 613488
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 10.0 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.
- ↑ 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.
- ↑ 12.0 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.