Compendium of Cancer Genome Aberrations

STBT5:Alveolar soft part sarcoma: Difference between revisions

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|''ASPSCR1::TFE3''
|''ASPSCR1::TFE3''
|In frame fusion that results in constitutive activation of the ASPSCR1 N-terminal UBX domain interacting with VCP/p97 cofactor to fuse with the helix-loop-helix-leucin zipper (bHLH-LZ) and DNA-binding domains of the 3’TFE3 transcription factor. <ref>{{Cite journal|last=Buchberger|first=A.|last2=Howard|first2=M. J.|last3=Proctor|first3=M.|last4=Bycroft|first4=M.|date=2001-03-16|title=The UBX domain: a widespread ubiquitin-like module|url=https://pubmed.ncbi.nlm.nih.gov/11243799|journal=Journal of Molecular Biology|volume=307|issue=1|pages=17–24|doi=10.1006/jmbi.2000.4462|issn=0022-2836|pmid=11243799}}</ref><ref name=":0">{{Cite journal|last=Ladanyi|first=M.|last2=Lui|first2=M. Y.|last3=Antonescu|first3=C. R.|last4=Krause-Boehm|first4=A.|last5=Meindl|first5=A.|last6=Argani|first6=P.|last7=Healey|first7=J. H.|last8=Ueda|first8=T.|last9=Yoshikawa|first9=H.|date=2001-01-04|title=The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25|url=https://pubmed.ncbi.nlm.nih.gov/11244503|journal=Oncogene|volume=20|issue=1|pages=48–57|doi=10.1038/sj.onc.1204074|issn=0950-9232|pmid=11244503}}</ref><ref name=":1">{{Cite journal|last=Pozner|first=Amir|last2=Li|first2=Li|last3=Verma|first3=Shiv Prakash|last4=Wang|first4=Shuxin|last5=Barrott|first5=Jared J.|last6=Nelson|first6=Mary L.|last7=Yu|first7=Jamie S. E.|last8=Negri|first8=Gian Luca|last9=Colborne|first9=Shane|date=2024-02-07|title=ASPSCR1-TFE3 reprograms transcription by organizing enhancer loops around hexameric VCP/p97|url=https://pubmed.ncbi.nlm.nih.gov/38326311|journal=Nature Communications|volume=15|issue=1|pages=1165|doi=10.1038/s41467-024-45280-5|issn=2041-1723|pmc=10850509|pmid=38326311}}</ref><ref>{{Cite journal|last=Kim|first=Seongryong|last2=Song|first2=Hyun-Sup|last3=Yu|first3=Jihyun|last4=Kim|first4=You-Me|date=2021-05-31|title=MiT Family Transcriptional Factors in Immune Cell Functions|url=https://pubmed.ncbi.nlm.nih.gov/33972476|journal=Molecules and Cells|volume=44|issue=5|pages=342–355|doi=10.14348/molcells.2021.0067|issn=0219-1032|pmc=8175148|pmid=33972476}}</ref>  
|In frame fusion that results in constitutive activation of the ASPSCR1 N-terminal UBX domain interacting with VCP/p97 cofactor to fuse with the helix-loop-helix-leucin zipper (bHLH-LZ) and DNA-binding domains of the 3’TFE3 transcription factor. <ref>{{Cite journal|last=Buchberger|first=A.|last2=Howard|first2=M. J.|last3=Proctor|first3=M.|last4=Bycroft|first4=M.|date=2001-03-16|title=The UBX domain: a widespread ubiquitin-like module|url=https://pubmed.ncbi.nlm.nih.gov/11243799|journal=Journal of Molecular Biology|volume=307|issue=1|pages=17–24|doi=10.1006/jmbi.2000.4462|issn=0022-2836|pmid=11243799}}</ref><ref name=":0">{{Cite journal|last=Ladanyi|first=M.|last2=Lui|first2=M. Y.|last3=Antonescu|first3=C. R.|last4=Krause-Boehm|first4=A.|last5=Meindl|first5=A.|last6=Argani|first6=P.|last7=Healey|first7=J. H.|last8=Ueda|first8=T.|last9=Yoshikawa|first9=H.|date=2001-01-04|title=The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25|url=https://pubmed.ncbi.nlm.nih.gov/11244503|journal=Oncogene|volume=20|issue=1|pages=48–57|doi=10.1038/sj.onc.1204074|issn=0950-9232|pmid=11244503}}</ref><ref name=":1">{{Cite journal|last=Pozner|first=Amir|last2=Li|first2=Li|last3=Verma|first3=Shiv Prakash|last4=Wang|first4=Shuxin|last5=Barrott|first5=Jared J.|last6=Nelson|first6=Mary L.|last7=Yu|first7=Jamie S. E.|last8=Negri|first8=Gian Luca|last9=Colborne|first9=Shane|date=2024-02-07|title=ASPSCR1-TFE3 reprograms transcription by organizing enhancer loops around hexameric VCP/p97|url=https://pubmed.ncbi.nlm.nih.gov/38326311|journal=Nature Communications|volume=15|issue=1|pages=1165|doi=10.1038/s41467-024-45280-5|issn=2041-1723|pmc=10850509|pmid=38326311}}</ref><ref>{{Cite journal|last=Kim|first=Seongryong|last2=Song|first2=Hyun-Sup|last3=Yu|first3=Jihyun|last4=Kim|first4=You-Me|date=2021-05-31|title=MiT Family Transcriptional Factors in Immune Cell Functions|url=https://pubmed.ncbi.nlm.nih.gov/33972476|journal=Molecules and Cells|volume=44|issue=5|pages=342–355|doi=10.14348/molcells.2021.0067|issn=0219-1032|pmc=8175148|pmid=33972476}}</ref>  
Breakpoints typically involve Type 1: exon 6<ref name=":2">{{Cite journal|last=Zhao|first=Ming|last2=Rao|first2=Qiu|last3=Wu|first3=Cuiyun|last4=Zhao|first4=Zhongsheng|last5=He|first5=Xianglei|last6=Ru|first6=Guoqing|date=2015-09-15|title=Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression|url=https://pubmed.ncbi.nlm.nih.gov/26369552|journal=Diagnostic Pathology|volume=10|pages=160|doi=10.1186/s13000-015-0399-5|issn=1746-1596|pmc=4570486|pmid=26369552}}</ref><ref name=":3">{{Cite journal|last=Aulmann|first=S.|last2=Longerich|first2=T.|last3=Schirmacher|first3=P.|last4=Mechtersheimer|first4=G.|last5=Penzel|first5=R.|date=2007-06|title=Detection of the ASPSCR1-TFE3 gene fusion in paraffin-embedded alveolar soft part sarcomas|url=https://pubmed.ncbi.nlm.nih.gov/17543078|journal=Histopathology|volume=50|issue=7|pages=881–886|doi=10.1111/j.1365-2559.2007.02693.x|issn=0309-0167|pmid=17543078}}</ref>) or exon 4<ref name=":0" /> or Type 2: exon<ref name=":2" /><ref name=":3" /> or exon 3<ref name=":0" /> of ''TFE3'' (NM_006521) and exon 7 of ''ASPCR1'' (NM_024083).
Breakpoints typically involve Type 1: exon 6<ref name=":2">{{Cite journal|last=Zhao|first=Ming|last2=Rao|first2=Qiu|last3=Wu|first3=Cuiyun|last4=Zhao|first4=Zhongsheng|last5=He|first5=Xianglei|last6=Ru|first6=Guoqing|date=2015-09-15|title=Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression|url=https://pubmed.ncbi.nlm.nih.gov/26369552|journal=Diagnostic Pathology|volume=10|pages=160|doi=10.1186/s13000-015-0399-5|issn=1746-1596|pmc=4570486|pmid=26369552}}</ref><ref name=":3">{{Cite journal|last=Aulmann|first=S.|last2=Longerich|first2=T.|last3=Schirmacher|first3=P.|last4=Mechtersheimer|first4=G.|last5=Penzel|first5=R.|date=2007-06|title=Detection of the ASPSCR1-TFE3 gene fusion in paraffin-embedded alveolar soft part sarcomas|url=https://pubmed.ncbi.nlm.nih.gov/17543078|journal=Histopathology|volume=50|issue=7|pages=881–8
==References==86|doi=10.1111/j.1365-2559.2007.02693.x|issn=0309-0167|pmid=17543078}}</ref>) or exon 4<ref name=":0" /> or Type 2: exon<ref name=":2" /><ref name=":3" /> or exon 3<ref name=":0" /> of ''TFE3'' (NM_006521) and exon 7 of ''ASPCR1'' (NM_024083).
|Unbalanced der(17)t(X;17)(p11.23;q25) may also be reported (in older literature or cytogenetic suboptimal morphology) as add(17)t(X;17).
|Unbalanced der(17)t(X;17)(p11.23;q25) may also be reported (in older literature or cytogenetic suboptimal morphology) as add(17)t(X;17).
|Rare
|Rare
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Prior Author(s):
Prior Author(s):
<nowiki>*</nowiki>''Citation of this Page'': “Alveolar soft part sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/STBT5:Alveolar soft part sarcoma</nowiki>.  
<nowiki>*</nowiki>''Citation of this Page'': “Alveolar soft part sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/STBT5:Alveolar soft part sarcoma</nowiki>.  
[[Category:STBT5]][[Category:DISEASE]][[Category:Diseases A]]
[[Category:STBT5]][[Category:DISEASE]][[Category:Diseases A]]
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