CNS5:Diffuse leptomeningeal glioneuronal tumour - Revision history

Richard.Glen: Added Missing Sections

2026-04-21T18:45:19Z

Added Missing Sections

← Older revision		Revision as of 13:45, 21 April 2026
Line 208:		Line 208:

	One case of DLGNT in which a germline mutation in ''RAF1'' has been documented<ref>{{Cite journal\|last=Dodgshun\|first=Andrew J.\|last2=SantaCruz\|first2=Nadine\|last3=Hwang\|first3=Jaeho\|last4=Ramkissoon\|first4=Shakti H.\|last5=Malkin\|first5=Hayley\|last6=Bergthold\|first6=Guillaume\|last7=Manley\|first7=Peter\|last8=Chi\|first8=Susan\|last9=MacGregor\|first9=Duncan\|date=2016-06\|title=Disseminated glioneuronal tumors occurring in childhood: treatment outcomes and BRAF alterations including V600E mutation\|url=https://pubmed.ncbi.nlm.nih.gov/26994902\|journal=Journal of Neuro-Oncology\|volume=128\|issue=2\|pages=293–302\|doi=10.1007/s11060-016-2109-x\|issn=1573-7373\|pmid=26994902}}</ref>.		One case of DLGNT in which a germline mutation in ''RAF1'' has been documented<ref>{{Cite journal\|last=Dodgshun\|first=Andrew J.\|last2=SantaCruz\|first2=Nadine\|last3=Hwang\|first3=Jaeho\|last4=Ramkissoon\|first4=Shakti H.\|last5=Malkin\|first5=Hayley\|last6=Bergthold\|first6=Guillaume\|last7=Manley\|first7=Peter\|last8=Chi\|first8=Susan\|last9=MacGregor\|first9=Duncan\|date=2016-06\|title=Disseminated glioneuronal tumors occurring in childhood: treatment outcomes and BRAF alterations including V600E mutation\|url=https://pubmed.ncbi.nlm.nih.gov/26994902\|journal=Journal of Neuro-Oncology\|volume=128\|issue=2\|pages=293–302\|doi=10.1007/s11060-016-2109-x\|issn=1573-7373\|pmid=26994902}}</ref>.

	<br />		<br />
			==Additional Information==
			Put your text here
			==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>
	==References==		==References==
			<references />
			==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.
	[[Category:CNS5]]		[[Category:CNS5]]
	[[Category:DISEASE]]		[[Category:DISEASE]]
	[[Category:Diseases D]]		[[Category:Diseases D]]
	~~<references />~~

Laveniya.Satgunaseelan: finalising page

2025-07-08T03:00:07Z

finalising page

← Older revision		Revision as of 22:00, 7 July 2025
Line 5:		Line 5:
	{{Under Construction}}		{{Under Construction}}

	<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>		<br />
	==Primary Author(s)*==		==Primary Author(s)*==

Bailey.Glen at 17:34, 3 July 2025

2025-07-03T17:34:38Z

@@ Line 31: / Line 31: @@
 |Diffuse leptomeningeal glioneuronal tumour
 |}
 ==Related Terminology==

Bailey.Glen at 17:21, 3 July 2025

2025-07-03T17:21:08Z

← Older revision		Revision as of 12:21, 3 July 2025
Line 75:		Line 75:
	\|-		\|-
	\|''NTRK1/2/3''		\|''NTRK1/2/3''
	\|Fusion partner not specified (PMID: 29766299) ~~<span lang="EN-US">BRAF</span>~~		\|Fusion partner not specified (PMID: 29766299)
	\|Downstream activation of MAPK/ERK signalling pathway in CNS tumors		\|Downstream activation of MAPK/ERK signalling pathway in CNS tumors
	\|Not specified		\|Not specified
Line 83:		Line 83:
	\|3 cases with ''NTRK1/2/3'' fusions<ref>{{Cite journal\|last=Deng\|first=Maximilian Y.\|last2=Sill\|first2=Martin\|last3=Chiang\|first3=Jason\|last4=Schittenhelm\|first4=Jens\|last5=Ebinger\|first5=Martin\|last6=Schuhmann\|first6=Martin U.\|last7=Monoranu\|first7=Camelia-Maria\|last8=Milde\|first8=Till\|last9=Wittmann\|first9=Andrea\|date=2018-08\|title=Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features\|url=https://pubmed.ncbi.nlm.nih.gov/29766299\|journal=Acta Neuropathologica\|volume=136\|issue=2\|pages=239–253\|doi=10.1007/s00401-018-1865-4\|issn=1432-0533\|pmid=29766299}}</ref>		\|3 cases with ''NTRK1/2/3'' fusions<ref>{{Cite journal\|last=Deng\|first=Maximilian Y.\|last2=Sill\|first2=Martin\|last3=Chiang\|first3=Jason\|last4=Schittenhelm\|first4=Jens\|last5=Ebinger\|first5=Martin\|last6=Schuhmann\|first6=Martin U.\|last7=Monoranu\|first7=Camelia-Maria\|last8=Milde\|first8=Till\|last9=Wittmann\|first9=Andrea\|date=2018-08\|title=Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features\|url=https://pubmed.ncbi.nlm.nih.gov/29766299\|journal=Acta Neuropathologica\|volume=136\|issue=2\|pages=239–253\|doi=10.1007/s00401-018-1865-4\|issn=1432-0533\|pmid=29766299}}</ref>
	\|-		\|-
	\|''RAF1''~~<span lang="EN-US">BRAF</span>~~		\|''RAF1''
	\|''TRIM33:RAF1''		\|''TRIM33:RAF1''
	~~<br />~~
	\|Downstream activation of MAPK/ERK signalling pathway in CNS tumors		\|Downstream activation of MAPK/ERK signalling pathway in CNS tumors
	\|t(1;3)(p13;p25)		\|t(1;3)(p13;p25)

Bailey.Glen at 17:17, 3 July 2025

2025-07-03T17:17:11Z

← Older revision		Revision as of 12:17, 3 July 2025
Line 68:		Line 68:
	\|''BRAF''		\|''BRAF''
	\|''KIAA1549::BRAF''		\|''KIAA1549::BRAF''
	\|Tandem duplication at chr7q34 - duplication and insertion of ~2Mb fragment resulting in fusion of 5’ of ''KIAA1549'' with 3’ of ''BRAF''		\|Tandem duplication at chr7q34 - duplication and insertion of ~2Mb fragment resulting in fusion of 5’ of ''KIAA1549'' with 3’ of ''BRAF''\|\|t(7;7)(q34;q34)
	~~<span lang="EN-US">BRAF</span>~~\|\|t(7;7)(q34;q34)
	\|Common (72%; WHO)		\|Common (72%; WHO)
	\|D, T		\|D, T

Laveniya.Satgunaseelan at 13:53, 28 June 2025

2025-06-28T13:53:43Z

← Older revision		Revision as of 08:53, 28 June 2025
Line 58:		Line 58:

	==Gene Rearrangements==		==Gene Rearrangements==
	~~<br />~~
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-

Laveniya.Satgunaseelan at 13:50, 28 June 2025

2025-06-28T13:50:42Z

← Older revision		Revision as of 08:50, 28 June 2025
Line 147:		Line 147:
	\|D		\|D
	\|Yes (WHO)		\|Yes (WHO)
	\|Prevalence between 18% and 33%<ref>{{Cite journal\|last=Rodriguez\|first=Fausto J.\|last2=Schniederjan\|first2=Matthew J.\|last3=Nicolaides\|first3=Theo\|last4=Tihan\|first4=Tarik\|last5=Burger\|first5=Peter C.\|last6=Perry\|first6=Arie\|date=2015-04\|title=High rate of concurrent BRAF-KIAA1549 gene fusion and 1p deletion in disseminated oligodendroglioma-like leptomeningeal neoplasms (DOLN)\|url=https://pubmed.ncbi.nlm.nih.gov/25720745\|journal=Acta Neuropathologica\|volume=129\|issue=4\|pages=609–610\|doi=10.1007/s00401-015-1400-9\|issn=1432-0533\|pmc=4696044\|pmid=25720745}}</ref><ref>{{Cite journal\|last=Deng\|first=Maximilian Y.\|last2=Sill\|first2=Martin\|last3=Chiang\|first3=Jason\|last4=Schittenhelm\|first4=Jens\|last5=Ebinger\|first5=Martin\|last6=Schuhmann\|first6=Martin U.\|last7=Monoranu\|first7=Camelia-Maria\|last8=Milde\|first8=Till\|last9=Wittmann\|first9=Andrea\|date=2018-08\|title=Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features\|url=https://pubmed.ncbi.nlm.nih.gov/29766299\|journal=Acta Neuropathologica\|volume=136\|issue=2\|pages=239–253\|doi=10.1007/s00401-018-1865-4\|issn=1432-0533\|pmid=29766299}}</ref>		\|Prevalence between 18% and 33%<ref>{{Cite journal\|last=Rodriguez\|first=Fausto J.\|last2=Schniederjan\|first2=Matthew J.\|last3=Nicolaides\|first3=Theo\|last4=Tihan\|first4=Tarik\|last5=Burger\|first5=Peter C.\|last6=Perry\|first6=Arie\|date=2015-04\|title=High rate of concurrent BRAF-KIAA1549 gene fusion and 1p deletion in disseminated oligodendroglioma-like leptomeningeal neoplasms (DOLN)\|url=https://pubmed.ncbi.nlm.nih.gov/25720745\|journal=Acta Neuropathologica\|volume=129\|issue=4\|pages=609–610\|doi=10.1007/s00401-015-1400-9\|issn=1432-0533\|pmc=4696044\|pmid=25720745}}</ref><ref>{{Cite journal\|last=Deng\|first=Maximilian Y.\|last2=Sill\|first2=Martin\|last3=Chiang\|first3=Jason\|last4=Schittenhelm\|first4=Jens\|last5=Ebinger\|first5=Martin\|last6=Schuhmann\|first6=Martin U.\|last7=Monoranu\|first7=Camelia-Maria\|last8=Milde\|first8=Till\|last9=Wittmann\|first9=Andrea\|date=2018-08\|title=Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features\|url=https://pubmed.ncbi.nlm.nih.gov/29766299\|journal=Acta Neuropathologica\|volume=136\|issue=2\|pages=239–253\|doi=10.1007/s00401-018-1865-4\|issn=1432-0533\|pmid=29766299}}</ref>
	\|-		\|-
	\| colspan="6" \|		\| colspan="6" \|
Line 178:		Line 178:
	\|Nil		\|Nil
	\|No		\|No
	\|Case report of co-occurring ''PIK3CA'' variant<ref>{{Cite journal\|last=Appay\|first=Romain\|last2=Pages\|first2=Mélanie\|last3=Colin\|first3=Carole\|last4=Jones\|first4=David T. W.\|last5=Varlet\|first5=Pascale\|last6=Figarella-Branger\|first6=Dominique\|date=2020-06-30\|title=Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases\|url=https://pubmed.ncbi.nlm.nih.gov/32605662\|journal=Acta Neuropathologica Communications\|volume=8\|issue=1\|pages=95\|doi=10.1186/s40478-020-00978-7\|issn=2051-5960\|pmc=7325675\|pmid=32605662}}</ref>		\|Case report of co-occurring ''PIK3CA'' variant<ref>{{Cite journal\|last=Appay\|first=Romain\|last2=Pages\|first2=Mélanie\|last3=Colin\|first3=Carole\|last4=Jones\|first4=David T. W.\|last5=Varlet\|first5=Pascale\|last6=Figarella-Branger\|first6=Dominique\|date=2020-06-30\|title=Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases\|url=https://pubmed.ncbi.nlm.nih.gov/32605662\|journal=Acta Neuropathologica Communications\|volume=8\|issue=1\|pages=95\|doi=10.1186/s40478-020-00978-7\|issn=2051-5960\|pmc=7325675\|pmid=32605662}}</ref>
	\|-		\|-
	\|''TERT''		\|''TERT''
Line 186:		Line 186:
	\|Nil		\|Nil
	\|No		\|No
	\|Point mutations described include C228T and C228A<ref>{{Cite journal\|last=Deng\|first=Maximilian Y.\|last2=Sill\|first2=Martin\|last3=Chiang\|first3=Jason\|last4=Schittenhelm\|first4=Jens\|last5=Ebinger\|first5=Martin\|last6=Schuhmann\|first6=Martin U.\|last7=Monoranu\|first7=Camelia-Maria\|last8=Milde\|first8=Till\|last9=Wittmann\|first9=Andrea\|date=2018-08\|title=Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features\|url=https://pubmed.ncbi.nlm.nih.gov/29766299\|journal=Acta Neuropathologica\|volume=136\|issue=2\|pages=239–253\|doi=10.1007/s00401-018-1865-4\|issn=1432-0533\|pmid=29766299}}</ref>		\|Point mutations described include C228T and C228A<ref>{{Cite journal\|last=Deng\|first=Maximilian Y.\|last2=Sill\|first2=Martin\|last3=Chiang\|first3=Jason\|last4=Schittenhelm\|first4=Jens\|last5=Ebinger\|first5=Martin\|last6=Schuhmann\|first6=Martin U.\|last7=Monoranu\|first7=Camelia-Maria\|last8=Milde\|first8=Till\|last9=Wittmann\|first9=Andrea\|date=2018-08\|title=Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features\|url=https://pubmed.ncbi.nlm.nih.gov/29766299\|journal=Acta Neuropathologica\|volume=136\|issue=2\|pages=239–253\|doi=10.1007/s00401-018-1865-4\|issn=1432-0533\|pmid=29766299}}</ref>
	\|-		\|-
	\|		\|

Laveniya.Satgunaseelan: references inserted

2025-06-28T13:49:58Z

references inserted

Show changes

Laveniya.Satgunaseelan: Tables filled

2025-06-28T13:28:36Z

Tables filled

Show changes

Laveniya.Satgunaseelan at 13:25, 28 June 2025

2025-06-28T13:25:01Z

← Older revision		Revision as of 08:25, 28 June 2025
Line 118:		Line 118:
	\|Prevalence common, between 59% (by FISH; PMIDs: 22596013, 17184079, 19486008, 22941225, 25720745) and 100% (by CNV calling from DNA methylation array data; PMID: 29766299).		\|Prevalence common, between 59% (by FISH; PMIDs: 22596013, 17184079, 19486008, 22941225, 25720745) and 100% (by CNV calling from DNA methylation array data; PMID: 29766299).
	\|-		\|-
	\|1q		\|1q
	\|Gain		\|Gain
	\|Complete arm gain (PMIDs: 29766299, 30465258)		\|Complete arm gain (PMIDs: 29766299, 30465258)