CNS5:Diffuse leptomeningeal glioneuronal tumour - Revision history

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)

Laveniya.Satgunaseelan: individual region genomic Gain/Loss/LOH

2025-06-28T13:24:38Z

individual region genomic Gain/Loss/LOH

← Older revision		Revision as of 08:24, 28 June 2025
Line 107:		Line 107:
	!Established Clinical Significance Per Guidelines - Yes or No (Source)		!Established Clinical Significance Per Guidelines - Yes or No (Source)
	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
			!
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>~~		\|1p
	7		\|Loss
	\|~~<span class="blue-text">EXAMPLE:</span>~~ Loss		\|Complete arm loss (PMIDs: 22941225, 29766299)
	\|~~<span class="blue-text">EXAMPLE~~:~~</span>~~		\|Chr1p
	~~chr7~~		\|Unknown
	\|~~<span class="blue-text">EXAMPLE:</span>~~		\|D
	Unknown		\|Yes (WHO)
	\|~~<span class="blue-text">EXAMPLE:</span>~~ D~~, P~~		\|Prevalence common, between 59% (by FISH; PMIDs: 22596013, 17184079, 19486008, 22941225, 25720745) and 100% (by CNV calling from DNA methylation array data; PMID: 29766299).
	\|~~<span class="blue-text">EXAMPLE:</span> No~~
	\|~~<span class="blue-text">EXAMPLE~~:~~</span>~~
	~~Presence of monosomy 7 (or 7q deletion~~) ~~is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20~~% ~~blasts and no prior therapy~~ (~~add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references~~).
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>~~		\|1q
	8		\|Gain
	\|~~<span class="blue-text">EXAMPLE:</span>~~ Gain		\|Complete arm gain (PMIDs: 29766299, 30465258)
	\|~~<span class="blue-text">EXAMPLE~~:~~</span>~~		\|Chr1q
	~~chr8~~		\|Unknown
	\|~~<span class="blue-text">EXAMPLE:</span>~~		\|D
	Unknown		\|Yes (WHO)
	\|~~<span class="blue-text">EXAMPLE:</span>~~ D~~, P~~		\|Prevalence common, between 56% and 63% (by CNV calling from DNA methylation array data; PMIDs: 29766299, 30465258)
	\|
	\|~~<span class="blue-text">EXAMPLE~~:~~</span>~~		Found in all cases of DLGNT methylation class (MC)-2 (PMID: 29766299)
	~~Common recurrent secondary finding for t~~(~~8;21~~) (~~add references~~).
	\|-		\|-
	\|~~<span class~~="~~blue-text~~"~~>EXAMPLE:</span>~~		\| colspan="8" \|
	17
	~~\|<span class="blue-text">EXAMPLE:</span> Amp~~
	~~\|<span class="blue-text">EXAMPLE:</span>~~
	~~17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]~~
	~~\|<span class="blue-text">EXAMPLE:</span>~~
	~~''ERBB2''~~
	~~\|<span class="blue-text">EXAMPLE:</span> D, P, T~~
	\|
	~~\|<span class="blue-text">EXAMPLE:</span>~~
	~~Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.~~
	\|-
	\|
	\|
	\|
	\|
	\|
	\|
	\|
	\|}		\|}

Line 284:		Line 263:
	[[Category:DISEASE]]		[[Category:DISEASE]]
	[[Category:Diseases D]]		[[Category:Diseases D]]
			<references />