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Chromosomal translocations (view source)

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'''Chromosomal translocations''' may be characteristic of a tumour or simply narrow down the diagnosis to a set of tumours.  They are often a subject of pimping and show-up on examinations.
[[Image:Bcrablmet.jpg|thumb|right|250px|A fusion signal (yellow - left/top of image) suggesting a BCR-ABL translocation. [[FISH]]. (WC/Pmx)]]
'''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:
The key point is:
*One should be aware of the existence of (specific) translocations and translocations which significantly narrow down the diagnosis -- which are available (for clinical pathology).
*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===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour'''
| '''Translocation(s)'''
| '''Genes'''
| '''Reference(s)'''
|-
| [[Ewing sarcoma]]/PNET
| t(11;22)
| FLI1-EWS
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref><ref name=OMIM133450>{{OMIM|133450}}</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><ref name=OMIM613488>{{OMIM|613488}}</ref>
|-
| [[Synovial sarcoma]]
| t(X;18)
| SYT-SSX
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
| [[Alveolar rhabdomyosarcoma]]
| t(1;13)<br>t(2,13)
| PAX7-FKHR<br>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]] (infantile fibrosarcoma), [[Mesoblastic nephroma|cellular mesoblastic nephroma]]
| t(12;15)
| ETV6-NTRK3
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|}
 
Notes:
*''TLS'' (Translocated in LipoSarcoma), on chromosome 16, is the old name for ''FUS'' (FUsed in Sarcoma).<ref name=omim137070>{{OMIM|137070}}</ref>
====EWS associated====
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour'''
| '''Translocation(s)'''
| '''Genes'''
| '''Reference(s)'''
|-
| [[Ewing sarcoma]]/PNET
| t(11;22)
| FLI1-EWS
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref><ref name=OMIM133450>{{OMIM|133450}}</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>
|-
|}
 
<center>Memory device: ''EWS EDC''.</center>
 
===Lymphoma===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour'''
| '''Translocation(s)'''
| '''Genes'''
| '''Reference(s)'''
|-
| [[Follicular lymphoma]]
| t(14,18)
| 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>
|-
| [[Mantle cell lymphoma]]
| t(11;14)
| 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>
|-
| [[Burkitt lymphoma]]
| t(8;14)
| MYC-IGH (IGH-MYC)
| <ref name=pmid19074108>{{Cite journal  | last1 = Perkins | first1 = AS. | last2 = Friedberg | first2 = JW. | title = Burkitt lymphoma in adults. | journal = Hematology Am Soc Hematol Educ Program | volume =  | issue =  | pages = 341-8 | month =  | year = 2008 | doi = 10.1182/asheducation-2008.1.341 | PMID = 19074108 }}
</ref>
|-
<!-- | Tumour
| Genes
| Translocation
| Reference -->
|}
 
===Leukemia===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour'''
| '''Translocation(s)'''
| '''Genes'''
| '''Reference(s)'''
|-
| [[Chronic myelogenous leukemia]]
| t(9;22)
| BCR-ABL
| <ref>{{Cite journal  | last1 = Cilloni | first1 = D. | last2 = Saglio | first2 = G. | title = CML: a model for targeted therapy. | journal = Best Pract Res Clin Haematol | volume = 22 | issue = 3 | pages = 285-94 | month = Sep | year = 2009 | doi = 10.1016/j.beha.2009.04.004 | PMID = 19959080 }}</ref>
|-
| [[Acute promyelocytic leukemia]] (APL)
| t(15;17)
| 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=omim102578>{{OMIM|102578}}</ref><ref name=omim180240>{{OMIM|180240}}</ref>
|-
<!-- | tumour
| genes (???)
| translocation
| reference (???) -->
|}
 
===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>
|-
<!-- | tumour
| genes (???)
| translocation
| reference (???) -->
|}
 
===Prostate cancer===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour'''
| '''Translocation(s)'''
| '''Genes'''
| '''Reference(s)'''
|-
| Prostate cancer
| TMPRSS2-ERG
| t(21;21)
| <ref name=pmid20478527>{{cite journal | author = 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 | title = An Integrated Network of Androgen Receptor, Polycomb, and TMPRSS2-ERG Gene Fusions in Prostate Cancer Progression | journal = Cancer Cell | volume = 17 | issue = 5 | pages = 443–54 | year = 2010 | month = May | pmid = 20478527 | pmc = 2874722 | doi = 10.1016/j.ccr.2010.03.018 | url =  }}</ref><ref name=omim602060>{{OMIM|602060}}</ref>
|-
<!-- | tumour
| genes (???)
| translocation
| reference (???) -->
|}
 
===Uterine tumours===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour'''
| '''Translocation(s)'''
| '''Genes'''
| '''Reference(s)'''
|-
| [[Endometrial stromal sarcoma]]
| JAZF1-SUZ12
| t(7;17)
| <ref name=omim606246>{{OMIM|606246}}</ref><ref name=omim606245>{{OMIM|606245}}</ref>
|}


{| class="wikitable"
===Paediatric table===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour(s)'''
| '''Translocation'''
| '''Translocation'''
| '''Genes'''
| '''Genes'''
| '''Tumour(s)'''
| '''Reference'''
| '''Reference'''
|-
|-
| [[Angiomatoid fibrous histiocytoma]]
| t(12;16)
| t(12;16)
| FUS/ATF1
| FUS-ATF1
| [[angiomatoid fibrous histiocytoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref><ref>URL: [https://iris.ucl.ac.uk/research/browse/show-publication?pub_id=238366&source_id=2 https://iris.ucl.ac.uk/research/browse/show-publication?pub_id=238366&source_id=2]. Accessed on: 13 December 2011.</ref><ref name=pmid18251589>{{Cite journal  | last1 = Thway | first1 = K. | title = Angiomatoid fibrous histiocytoma: a review with recent genetic findings. | journal = Arch Pathol Lab Med | volume = 132 | issue = 2 | pages = 273-7 | month = Feb | year = 2008 | doi = 10.1043/1543-2165(2008)132[273:AFHARW]2.0.CO;2 | PMID = 18251589 }}</ref>
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
|-
| [[Angiomatoid fibrous histiocytoma]]
| t(12;22)
| t(12;22)
| EWS/ATF1
| EWS-ATF1
| [[angiomatoid fibrous histiocytoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref><ref name=pmid18251589/>
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
|-
 
| [[Myxoid liposarcoma]]
| t(12;16)
| t(12;16)
| EWS/CHOP
| CHOP-TLS
| myxoid [[liposarcoma]]
| <ref name=omim613488>{{OMIM|613488}}</ref>
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
|-
| t(16;22)
| [[Myxoid liposarcoma]]
| EWS/ATF1
| t(12;22)
| myxoid [[liposarcoma]]
| EWS-ATF1
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
| <ref name=PST14feb11>PST. 14 February 2011.</ref><ref name=pmid21115923>{{Cite journal  | last1 = Suzuki | first1 = K. | last2 = Matsui | first2 = Y. | last3 = Endo | first3 = K. | last4 = Kubo | first4 = T. | last5 = Hasegawa | first5 = T. | last6 = Kimura | first6 = T. | last7 = Ohtani | first7 = O. | last8 = Yasui | first8 = N. | title = Myxoid liposarcoma with EWS-CHOP type 1 fusion gene. | journal = Anticancer Res | volume = 30 | issue = 11 | pages = 4679-83 | month = Nov | year = 2010 | doi =  | PMID = 21115923 }}</ref>
|-
|-
| [[Clear cell sarcoma]]
| t(12;22)
| t(12;22)
| EWS/ATF1
| EWS-ATF1
| [[clear cell sarcoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
|-
| [[Ewing sarcoma]]
| t(21;22)
| t(21;22)
| EWS/ATF1
| EWS-ERG
| [[Ewing sarcoma]]
| <ref name=omim165080>{{OMIM|165080}}</ref>
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
|-
| t(12;21)
| FUS/ERG
| [[Ewing sarcoma]]
| [[Ewing sarcoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
| t(16;21)
| FUS-ERG
| <ref name=pmid8187069>{{Cite journal  | last1 = Ichikawa | first1 = H. | last2 = Shimizu | first2 = K. | last3 = Hayashi | first3 = Y. | last4 = Ohki | first4 = M. | title = An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation. | journal = Cancer Res | volume = 54 | issue = 11 | pages = 2865-8 | month = Jun | year = 1994 | doi =  | PMID = 8187069 }}</ref>
|-
|-
| t(12;21)
| [[Acute myeloid leukemia]]
| FUS/ERG
| t(16;21)
| [[acute myeloid leukemia]]
| FUS-ERG
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
| <ref name=pmid8187069>{{Cite journal  | last1 = Ichikawa | first1 = H. | last2 = Shimizu | first2 = K. | last3 = Hayashi | first3 = Y. | last4 = Ohki | first4 = M. | title = An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation. | journal = Cancer Res | volume = 54 | issue = 11 | pages = 2865-8 | month = Jun | year = 1994 | doi =  | PMID = 8187069 }}</ref>
|-
|-
<!-- | Translocation
<!-- | Translocation
Line 56: Line 261:
| Reference -->
| Reference -->
|}
|}
Notes:
*''TLS'' (Translocated in LipoSarcoma), on chromosome 16, is the old name for ''FUS'' (FUsed in Sarcoma).<ref name=omim137070>{{OMIM|137070}}</ref>


==See also==
==See also==
*[[Lymphoma]].
*[[Lymphoma]].
*[[Molecular pathology]].
*[[Molecular pathology]].
*[[Chromosomal anomalies]].


==References==
==References==
{{Reflist|1}}
{{Reflist|2}}
 
==Further reading==
{{cite journal |author=Rowley JD |title=Chromosomal translocations: revisited yet again |journal=Blood |volume=112 |issue=6 |pages=2183–9 |year=2008 |month=September |pmid=18779403 |doi=10.1182/blood-2008-04-097931 |url=http://bloodjournal.hematologylibrary.org/content/112/6/2183.full}}


[[Category:Basics]]
[[Category:Basics]]
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