STBT5:Alveolar soft part sarcoma: Difference between revisions

{{DISPLAYTITLE:Alveolar soft part sarcoma}}

[[STBT5:Table_of_Contents|Soft Tissue and Bone Tumours (Who Classification, 5th ed.)]]

==Primary Author(s)*==

|''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>  

|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

|''HNRNPH3::TFE3''

|In frame fusion resulting in constitutive activation of N-terminal HNRNPH3 with the helix-loop-helix leucin zipper transcription domains of the 3’TFE3 transcription factor.<ref name=":9">{{Cite journal|last=Dickson|first=Brendan C.|last2=Chung|first2=Catherine T.-S.|last3=Hurlbut|first3=David J.|last4=Marrano|first4=Paula|last5=Shago|first5=Mary|last6=Sung|first6=Yun-Shao|last7=Swanson|first7=David|last8=Zhang|first8=Lei|last9=Antonescu|first9=Cristina R.|date=2020-01|title=Genetic diversity in alveolar soft part sarcoma: A subset contain variant fusion genes, highlighting broader molecular kinship with other MiT family tumors|url=https://pubmed.ncbi.nlm.nih.gov/31433528|journal=Genes, Chromosomes & Cancer|volume=59|issue=1|pages=23–29|doi=10.1002/gcc.22803|issn=1098-2264|pmc=7057290|pmid=31433528}}</ref> Breakpoints typically involve exon 3 of ''TFE3'' (NM_006521) and exon 10 of ''HNRNPH3'' (NM_194247).<ref name=":9" />

|Single case in ASPS

|D

|''PRCC::TFE3''

|In frame fusion that results in constitutive activation of the N-terminal of PRCC with the helix-loop-helix and leucin zipper transcription domains of the 3’TFE3 transcription factor.<ref name=":9" /> Breakpoints typically involve exon 6 of ''TFE3'' (NM_006521) and exon 1 of ''PRCC'' (NM_005973).<ref name=":9" />

|Rare in tRCC -(single case in ASPS)

|D

|''DVL2::TFE3''

|In frame fusion that is predicted to result in constitutively activating the N-terminal of DVL2 (NM_004422) with the helix-loop-helix and leucin zipper transcription domains of the 3’TFE3 (NM_005973) transcription factor.<ref name=":9" />

|Rare in tRCC -(single case in ASPS)

|D

==Familial Forms==

==Additional Information==

==Links==

None

==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.  

Prior Author(s):

[[Category:STBT5]][[Category:DISEASE]][[Category:Diseases A]]