Compendium of Cancer Genome Aberrations

STBT5:Alveolar soft part sarcoma: Difference between revisions

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|''HNRNPH3::TFE3''
|''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" />
|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" />
|t(X;10)(p11.23;q21.31) in MiT family tRCC <ref name=":10">{{Cite journal|last=Ge|first=Yan|last2=Lin|first2=Xingtao|last3=Zhang|first3=Qingling|last4=Lin|first4=Danyi|last5=Luo|first5=Luqiao|last6=Wang|first6=Huiling|last7=Li|first7=Zhi|date=2021|title=Xp11.2 Translocation Renal Cell Carcinoma With TFE3 Rearrangement: Distinct Morphological Features and Prognosis With Different Fusion Partners|url=https://pubmed.ncbi.nlm.nih.gov/34917511|journal=Frontiers in Oncology|volume=11|pages=784993|doi=10.3389/fonc.2021.784993|issn=2234-943X|pmc=8668609|pmid=34917511}}</ref> – single case of ASPS confirmed by FISH and targeted RNA sequencing.<ref name=":9" />
|t(X;10)(p11.23;q21.31) in MiT family tRCC. <ref name=":10">{{Cite journal|last=Ge|first=Yan|last2=Lin|first2=Xingtao|last3=Zhang|first3=Qingling|last4=Lin|first4=Danyi|last5=Luo|first5=Luqiao|last6=Wang|first6=Huiling|last7=Li|first7=Zhi|date=2021|title=Xp11.2 Translocation Renal Cell Carcinoma With TFE3 Rearrangement: Distinct Morphological Features and Prognosis With Different Fusion Partners|url=https://pubmed.ncbi.nlm.nih.gov/34917511|journal=Frontiers in Oncology|volume=11|pages=784993|doi=10.3389/fonc.2021.784993|issn=2234-943X|pmc=8668609|pmid=34917511}}</ref> Single case of ASPS confirmed by FISH and targeted RNA sequencing.<ref name=":9" />
|Single case in ASPS
|Single case in ASPS
|D
|D
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|''PRCC::TFE3''
|''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" />
|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" />
|t(X;1)(p11.23;q23.1) in MiT family tRCC<ref name=":10" /> - single case ASPS confirmed by karyotype, FISH and targeted RNA sequencing.<ref name=":9" />
|t(X;1)(p11.23;q23.1) in MiT family tRCC.<ref name=":10" /> Single case ASPS confirmed by karyotype, FISH and targeted RNA sequencing.<ref name=":9" />
|Rare in tRCC -(single case in ASPS)
|Rare in tRCC -(single case in ASPS)
|D
|D
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|''DVL2::TFE3''
|''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" />
|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" />
|(X;17)(p11.2:p13) in MiT family tRCC <ref name=":10" /> - single case ASPS confirmed by FISH.<ref name=":9" />
|(X;17)(p11.2:p13) in MiT family tRCC. <ref name=":10" /> Single case ASPS confirmed by FISH.<ref name=":9" />
|Rare in tRCC -(single case in ASPS)
|Rare in tRCC -(single case in ASPS)
|D
|D
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