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.   
They fall into the category of [[molecular pathology]].


==Key point==
==Key point==
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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>
|-
|-
| Myxoid liposarcoma, round-cell type liposarcoma
| [[Myxoid liposarcoma]], round-cell type liposarcoma
| t(12;16)
| t(12;16)
| CHOP-TLS
| CHOP-TLS
Line 36: Line 39:
| <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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| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
| <ref name=Ref_PBoD8_1249>{{Ref PBoD8|1249}}</ref>
|-
|-
| Congenital fibrosarcoma
| [[Congenital fibrosarcoma]] (infantile fibrosarcoma), [[Mesoblastic nephroma|cellular mesoblastic nephroma]]
| t(12;15)
| t(12;15)
| ETV6-NTRK3
| ETV6-NTRK3
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|}
|}


===EWS associated===
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"
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour'''
| '''Tumour'''
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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
Line 96: Line 101:
|}
|}


===Paediatric table===
<center>Memory device: ''EWS EDC''.</center>
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Translocation'''
| '''Genes'''
| '''Tumour(s)'''
| '''Reference'''
|-
| t(12;16)
| FUS/ATF1
| [[angiomatoid fibrous histiocytoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
| t(12;22)
| EWS/ATF1
| [[angiomatoid fibrous histiocytoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
 
| t(12;16)
| EWS/CHOP
| myxoid [[liposarcoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
| t(16;22)
| EWS/ATF1
| myxoid [[liposarcoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
| t(12;22)
| EWS/ATF1
| [[clear cell sarcoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
| t(21;22)
| EWS/ATF1
| [[Ewing sarcoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
| t(12;21)
| FUS/ERG
| [[Ewing sarcoma]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
| t(12;21)
| FUS/ERG
| [[acute myeloid leukemia]]
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
<!-- | Translocation
| Genes
| Tumour
| Reference -->
|}


===Lymphoma===
===Lymphoma===
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| '''Reference(s)'''
| '''Reference(s)'''
|-
|-
| Follicular lymphoma
| [[Follicular lymphoma]]
| genes ???
| t(14,18)
| t(14,18)
| reference ???
| 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
| [[Mantle cell lymphoma]]
| genes ???
| t(11;14)
| t(11;14)
| reference ???
| 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
| [[Burkitt lymphoma]]
| genes ???
| t(8;14)  
| t(8;14)  
| reference ???
| 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
<!-- | Tumour
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| '''Reference(s)'''
| '''Reference(s)'''
|-
|-
| Chronic myelogenous leukemia
| [[Chronic myelogenous leukemia]]
| BCR-ABL (???)
| t(9;22)  
| t(9;22)  
| Reference -->
| 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)
| [[Acute promyelocytic leukemia]] (APL)
| PML-RARA (???)
| t(15;17)  
| t(15;17)  
| reference -->
| 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
<!-- | tumour
| genes (???)
| genes (???)
| translocation  
| translocation  
| reference -->
| 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>
|}
===Paediatric table===
{| class="wikitable sortable" style="margin-left:auto;margin-right:auto"
| '''Tumour(s)'''
| '''Translocation'''
| '''Genes'''
| '''Reference'''
|-
| [[Angiomatoid fibrous histiocytoma]]
| t(12;16)
| FUS-ATF1
| <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>
|-
| [[Angiomatoid fibrous histiocytoma]]
| t(12;22)
| EWS-ATF1
| <ref name=PST14feb11>PST. 14 February 2011.</ref><ref name=pmid18251589/>
|-
| [[Myxoid liposarcoma]]
| t(12;16)
| CHOP-TLS
| <ref name=omim613488>{{OMIM|613488}}</ref>
|-
| [[Myxoid liposarcoma]]
| t(12;22)
| EWS-ATF1
| <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)
| EWS-ATF1
| <ref name=PST14feb11>PST. 14 February 2011.</ref>
|-
| [[Ewing sarcoma]]
| t(21;22)
| EWS-ERG
| <ref name=omim165080>{{OMIM|165080}}</ref>
|-
| [[Ewing sarcoma]]
| 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>
|-
| [[Acute myeloid leukemia]]
| 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>
|-
<!-- | Translocation
| Genes
| Tumour
| 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==
Michael
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