Difference between revisions of "Chromosomal translocations"

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Chromosomal translocations (view source)

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


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| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
|-
| Extraskeletal myxoid [[chondrosarcoma]]
| [[Extraskeletal myxoid chondrosarcoma]]
| t(9;22)
| t(9;22)
| CHN-EWS
| CHN-EWS
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|}
|}


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====
====EWS associated====
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
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| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref><ref name=OMIM133450>{{OMIM|133450}}</ref>
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref><ref name=OMIM133450>{{OMIM|133450}}</ref>
|-
|-
| Extraskeletal myxoid [[chondrosarcoma]]
| [[Extraskeletal myxoid chondrosarcoma]]
| t(9;22)
| t(9;22)
| CHN-EWS
| CHN-EWS
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|-
|-
|}
|}
<center>Memory device: ''EWS EDC''.</center>


===Lymphoma===
===Lymphoma===
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| '''Reference(s)'''
| '''Reference(s)'''
|-
|-
| Chronic myelogenous leukemia
| [[Chronic myelogenous leukemia]]
| t(9;22)  
| t(9;22)  
| BCR-ABL
| 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>
| <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)
| [[Acute promyelocytic leukemia]] (APL)
| t(15;17)  
| t(15;17)  
| 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><ref name=omim102578>{{OMIM|102578}}</ref><ref name=omim180240>{{OMIM|180240}}</ref>
|-
|-
<!-- | tumour
<!-- | tumour
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| TMPRSS2-ERG  
| TMPRSS2-ERG  
| t(21;21)
| 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 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
<!-- | tumour
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| translocation  
| translocation  
| reference (???) -->
| 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>
|}
|}


===Paediatric table===
===Paediatric table===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
{| 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>
|-
|-
| [[Myxoid liposarcoma]]
| t(12;22)
| t(12;22)
| EWS/ATF1
| EWS-ATF1
| myxoid [[liposarcoma]]
| <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>
| <ref name=PST14feb11>PST. 14 February 2011.</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/ERG
| EWS-ERG
| [[Ewing sarcoma]]
| <ref name=omim165080>{{OMIM|165080}}</ref>
| <ref name=omim165080>{{OMIM|165080}}</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
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| 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==
Michael
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