STBT5:Alveolar soft part sarcoma - Revision history

Kathleen.Schieffer at 14:22, 24 December 2025

2025-12-24T14:22:22Z

← Older revision		Revision as of 09:22, 24 December 2025
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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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	==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==

Maxine.Sutcliffe1: Checked References and minor formatting in tables

2025-12-24T01:55:04Z

Checked References and minor formatting in tables

← Older revision		Revision as of 20:55, 23 December 2025
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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

Maxine.Sutcliffe1: Completed text and re-entered References

2025-12-24T01:46:39Z

Completed text and re-entered References

Show changes

Kathleen.Schieffer at 09:31, 23 December 2025

2025-12-23T09:31:23Z

← Older revision		Revision as of 04:31, 23 December 2025
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	==Gene Rearrangements==		==Gene Rearrangements==
	~~Put your text here and fill in the table <span style="color~~:~~#0070C0">(~~''~~Instructions: Details on clinical significance such as prognosis and~~ other ~~important information can be provided in the notes section~~. ~~Please include references throughout the table. Do not delete the table.'')</span>~~		''ASPSCR1::TFE3'' is the definitive rearrangement for ASPS; however, other gene partners have been rarely described.
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-

Kathleen.Schieffer at 09:30, 23 December 2025

2025-12-23T09:30:39Z

← Older revision		Revision as of 04:30, 23 December 2025
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	\|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 (1)(2)(3)(4).		\|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 (1)(2)(3)(4).
	Breakpoints typically involve Type 1: exon 6(5)(6) or exon 4(2) or Type 2: exon5(5)(6) or exon 3(2) of ''TFE3'' (NM_006521) and exon 7 of ''ASPCR1'' (NM_024083).		Breakpoints typically involve Type 1: exon 6(5)(6) or exon 4(2) or Type 2: exon5(5)(6) or exon 3(2) 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).<ref>{{Cite journal\|last=Ministerial Meeting on Population of the Non-Aligned Movement (1993: Bali)\|date=1994-06\|title=Denpasar Declaration on Population and Development\|url=https://pubmed.ncbi.nlm.nih.gov/12345678\|journal=Integration (Tokyo, Japan)\|issue=40\|pages=27–29\|doi=10.1234/2013/999990\|issn=0916-0582\|pmid=12345678}}</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		\|Rare
	\|D, P, T (7)		\|D, P, T (7)

Kathleen.Schieffer at 09:30, 23 December 2025

2025-12-23T09:30:26Z

← Older revision		Revision as of 04:30, 23 December 2025
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	\|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 (1)(2)(3)(4).		\|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 (1)(2)(3)(4).
	Breakpoints typically involve Type 1: exon 6(5)(6) or exon 4(2) or Type 2: exon5(5)(6) or exon 3(2) of ''TFE3'' (NM_006521) and exon 7 of ''ASPCR1'' (NM_024083).		Breakpoints typically involve Type 1: exon 6(5)(6) or exon 4(2) or Type 2: exon5(5)(6) or exon 3(2) 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).<ref>{{Cite journal\|last=Ministerial Meeting on Population of the Non-Aligned Movement (1993: Bali)\|date=1994-06\|title=Denpasar Declaration on Population and Development\|url=https://pubmed.ncbi.nlm.nih.gov/12345678\|journal=Integration (Tokyo, Japan)\|issue=40\|pages=27–29\|doi=10.1234/2013/999990\|issn=0916-0582\|pmid=12345678}}</ref>
	\|Rare		\|Rare
	\|D, P, T (7)		\|D, P, T (7)

Kathleen.Schieffer at 09:29, 23 December 2025

2025-12-23T09:29:20Z

Show changes

Kathleen.Schieffer at 09:20, 23 December 2025

2025-12-23T09:20:09Z

@@ Line 6: / Line 6: @@
 <span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>
 ==Primary Author(s)*==
-Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
+Maxine Sutcliffe, PhD, FACMG, CCMG
 ==WHO Classification of Disease==
@@ Line 50: / Line 50: @@
 !Clinical Relevance Details/Other Notes
 |-
-|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
+| ||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
 |<span class="blue-text">EXAMPLE:</span> Common (CML)
 |<span class="blue-text">EXAMPLE:</span> D, P, T
@@ Line 91: / Line 91: @@
+|
 |-
+|
+{| class="wikitable"
+|
+|

Kathleen.Schieffer at 15:57, 22 December 2025

2025-12-22T15:57:48Z

← Older revision		Revision as of 10:57, 22 December 2025
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	==Links==		==Links==
	Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>		Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
	~~==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>
	==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>.		<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==
			(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>

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

Bailey.Glen at 17:53, 3 July 2025

2025-07-03T17:53:52Z

← Older revision		Revision as of 12:53, 3 July 2025
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	\|}		\|}

	~~==WHO Essential and Desirable Genetic Diagnostic Criteria==~~
	<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
	~~{\| class="wikitable"~~
	\|+
	\|WHO Essential Criteria (Genetics)*
	\|
	\|-
	\|WHO Desirable Criteria (Genetics)*
	\|
	\|-
	~~\|Other Classification~~
	\|
	\|}
	<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
	==Related Terminology==		==Related Terminology==