Compendium of Cancer Genome Aberrations

STBT5:Alveolar soft part sarcoma: Difference between revisions

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{{DISPLAYTITLE:Alveolar soft part sarcoma}}
{{DISPLAYTITLE:Alveolar soft part sarcoma}}
[[STBT5:Table_of_Contents|Soft Tissue and Bone Tumours (Who Classification, 5th ed.)]]
[[STBT5:Table_of_Contents|Soft Tissue and Bone Tumours (Who Classification, 5th ed.)]]
{{Under Construction}}


==Primary Author(s)*==
==Primary Author(s)*==
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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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==Familial Forms==
==Familial Forms==


* None known associated with fusions.
* None known associated with ASPS
* Individual genes, if mutated, may be associated with:
** ''ASPSCR1'': none
** ''TFE3'': ''TFE3''-Associated Neurodevelopmental Disorder (TFE3-AND),
** ''HNRNPH3'': Specifically none, but hnRNP family linked to rare neurodevelopmental disorders
** ''PRCC'': Hereditary Papillary RCC (HPRC), Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC),
** ''DVL2'': Robinow syndrome


==Additional Information==
==Additional Information==
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==Links==
==Links==
None
None
 
==References==
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span>
<references />
==Notes==
==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.  
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.  


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>.
==References==




<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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