Compendium of Cancer Genome Aberrations

CNS5:Diffuse leptomeningeal glioneuronal tumour: Difference between revisions

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{{DISPLAYTITLE:Diffuse leptomeningeal glioneuronal tumour}}
[[CNS5:Table_of_Contents|Central Nervous System Tumours (WHO Classification, 5th ed.)]]
{{Under Construction}}
{{Under Construction}}
<span style="color:#0070C0">(''General Instructions – TThe focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge using various 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 will capture the current genetics/genomics knowledge that evolves more rapidly than books can be updated 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/ HGVS-based nomenclature for variants], 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 to a table, click 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>


__TOC__
<br />
==Primary Author(s)*==
==Primary Author(s)*==
Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
 
 
Laveniya Satgunaseelan, MBBS BMedSc FRCPA, Royal Prince Alfred Hospital
==WHO Classification of Disease==
==WHO Classification of Disease==
<span style="color:#0070C0">(''Instructions: This table’s content will be autogenerated.'')</span>
 
{| class="wikitable"
{| class="wikitable"
!Structure
!Structure
Line 12: Line 17:
|-
|-
|Book
|Book
|
|Central Nervous System Tumours (5th ed.)
|-
|-
|Category
|Category
|
|Gliomas, glioneuronal tumours, and neuronal tumours
|-
|-
|Family
|Family
|
|Gliomas, glioneuronal tumours, and neuronal tumours
|-
|-
|Type
|Type
|
|Glioneuronal and neuronal tumours
|-
|-
|Subtype(s)
|Subtype(s)
|
|Diffuse leptomeningeal glioneuronal tumour
|}
|}
==WHO Essential and Desirable Genetic Diagnostic Criteria==
 
Put your text here <span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO autopopulated; remove any non-genetics related criteria. If applicable, below the table, add text about other classification systems that define this entity and specify how the genetics-related criteria differ.'') </span>
==Related Terminology==
 
{| class="wikitable"
{| class="wikitable"
|WHO  Essential Criteria (Genetics)*
|+
|
|Acceptable
|N/A
|-
|-
|WHO  Desirable Criteria (Genetics)*
|Not Recommended
|
|Disseminated oligodendroglioma-like leptomeningeal neoplasm; primary leptomeningeal oligodendrogliomatosis
|}
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/login WHO Classification of Tumours].
==Synonyms / Terminology==
Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
==Epidemiology / Prevalence==
Put your text here
==Clinical Features==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)


<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
==Gene Rearrangements==
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
==Sites of Involvement==
Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>
==Morphologic Features==
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of typically approximately one paragraph'') </span>
==Immunophenotype==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|-
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
|''BRAF''
|''KIAA1549::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)
|Common (72%; WHO)
|D, T
|Yes (WHO)
|Case report evidence of efficacy of BRAF inhibitors in DLGNT case  harboring ''KIAA1549::BRAF'' fusion<ref>{{Cite journal|last=Valiakhmetova|first=Andge|last2=Papusha|first2=Ludmila|last3=Yasko|first3=Ludmila|last4=Druy|first4=Alexander|last5=Karachunsky|first5=Alexander|last6=Novichkova|first6=Galina|last7=Hwang|first7=Eugene I|last8=Packer|first8=Roger J|date=2020-12-04|title=LGG-26. DIFFUSE LEPTOMENINGEAL GLIONEURONAL TUMOR (DLGNT) IN CHILDREN: DIFFERENT CLINICAL PRESENTATIONS AND OUTCOMES|url=https://academic.oup.com/neuro-oncology/article/22/Supplement_3/iii371/6018960|journal=Neuro-Oncology|language=en|volume=22|issue=Supplement_3|pages=iii371–iii371|doi=10.1093/neuonc/noaa222.408|issn=1522-8517|pmc=7715974}}</ref>
|-
|-
|Positive (subset)||
|''NTRK1/2/3''
|Fusion partner not specified (PMID: 29766299)
|Downstream activation of MAPK/ERK signalling pathway  in CNS tumors
|Not specified
|Rare
|D,T
|Yes (WHO)
|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>
|-
|-
|Negative (universal)||
|''RAF1''
|''TRIM33:RAF1''
|Downstream activation of MAPK/ERK signalling  pathway in CNS tumors
|t(1;3)(p13;p25)
|Rare
|D
|Yes (WHO)
|1 case with ''TRIM33::RAF1'' fusion<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>
|-
|-
|Negative (subset)||
| colspan="8" |
|}
|}
==Chromosomal Rearrangements (Gene Fusions)==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'')</span>
 
==Individual Region Genomic Gain/Loss/LOH==
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!Diagnostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Prognostic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Therapeutic Significance (Yes, No or Unknown)
!Clinical Relevance Details/Other Notes
!Notes
!
|-
|1p
|Loss
|Complete arm loss (PMIDs: 22941225, 29766299)
|Chr1p
|Unknown
|D
|Yes (WHO)
|Prevalence common, between 59% (by FISH; PMIDs: 22596013,  17184079, 19486008, 22941225, 25720745) and 100% (by CNV calling from DNA methylation  array data<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>).
|-
|1q
|Gain
|Complete arm gain (PMIDs: 29766299, 30465258)
|Chr1q
|Unknown
|D
|Yes (WHO)
|Prevalence common, between 56% and 63% (by CNV calling from DNA methylation  array data<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><ref>{{Cite journal|last=Chiang|first=Jason|last2=Dalton|first2=James|last3=Upadhyaya|first3=Santhosh A.|last4=Patay|first4=Zoltán|last5=Qaddoumi|first5=Ibrahim|last6=Li|first6=Xiaoyu|last7=Segura|first7=Annette D.|last8=Sharma|first8=Suash|last9=Ismail|first9=Azzam|date=2019-01|title=Chromosome arm 1q gain is an adverse prognostic factor in localized and diffuse leptomeningeal glioneuronal tumors with BRAF gene fusion and 1p deletion|url=https://pubmed.ncbi.nlm.nih.gov/30465258|journal=Acta Neuropathologica|volume=137|issue=1|pages=179–181|doi=10.1007/s00401-018-1940-x|issn=1432-0533|pmid=30465258}}</ref>)
 
Found in all cases of DLGNT methylation class (MC)-2<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>
|-
|-
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
| colspan="8" |
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
|<span class="blue-text">EXAMPLE:</span> Yes
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> Yes
|<span class="blue-text">EXAMPLE:</span>
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
|}
|}
==Individual Region Genomic Gain / Loss / LOH==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>
==Characteristic Chromosomal or Other Global Mutational Patterns==
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
!Chromosomal Pattern
!Diagnostic Significance (Yes, No or Unknown)
!Molecular Pathogenesis
!Prognostic Significance (Yes, No or Unknown)
!Prevalence -
!Therapeutic Significance (Yes, No or Unknown)
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Notes
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|Co-deletion of  1p and 19q
7
|Unknown
|<span class="blue-text">EXAMPLE:</span> Loss
|Recurrent to common
|<span class="blue-text">EXAMPLE:</span>
|D
chr7:1-159,335,973 [hg38]
|Yes  (WHO)
|<span class="blue-text">EXAMPLE:</span>
|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>
chr7
|<span class="blue-text">EXAMPLE:</span> Yes
|<span class="blue-text">EXAMPLE:</span> Yes
|<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 reference).
|-
|-
|<span class="blue-text">EXAMPLE:</span>
| colspan="6" |
8
|<span class="blue-text">EXAMPLE:</span> Gain
|<span class="blue-text">EXAMPLE:</span>
chr8:1-145,138,636 [hg38]
|<span class="blue-text">EXAMPLE:</span>
chr8
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span>
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}
==Characteristic Chromosomal Patterns==
 
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis. Do not delete table.'')</span>
==Gene Mutations (SNV/INDEL)==
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
!Diagnostic Significance (Yes, No or Unknown)
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Prognostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!Therapeutic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Notes
!Clinical Relevance Details/Other Notes
|-
|''BRAF''
|p.V600E (activating mutation)
|Oncogene
<br />
|Rare
|D, T
|Yes (WHO, NCCN)
|Rare reports  of DLGNTs harboring ''BRAF'' p.V600E mutations\<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><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>, including abstracts detailing efficacy of BRAF inhibtors in ''BRAF''-mutant  DLGNT<ref>{{Cite journal|last=Valiakhmetova|first=Andge|last2=Papusha|first2=Ludmila|last3=Yasko|first3=Ludmila|last4=Druy|first4=Alexander|last5=Karachunsky|first5=Alexander|last6=Novichkova|first6=Galina|last7=Hwang|first7=Eugene I|last8=Packer|first8=Roger J|date=2020-12-04|title=LGG-26. DIFFUSE LEPTOMENINGEAL GLIONEURONAL TUMOR (DLGNT) IN CHILDREN: DIFFERENT CLINICAL PRESENTATIONS AND OUTCOMES|url=https://academic.oup.com/neuro-oncology/article/22/Supplement_3/iii371/6018960|journal=Neuro-Oncology|language=en|volume=22|issue=Supplement_3|pages=iii371–iii371|doi=10.1093/neuonc/noaa222.408|issn=1522-8517|pmc=7715974}}</ref><ref>{{Cite journal|last=Aung|first=Le Le|date=2020-12-01|title=HGG-06. REMARKABLE RESPONSE TO BRAF INHIBITOR IN AN INFANT WITH DISSEMINATED DIFFUSE LEPTOMENINGEAL GLIONEURONAL TUMOR (DLGNT)|url=https://doi.org/10.1093/neuonc/noaa222.297|journal=Neuro-Oncology|volume=22|issue=Supplement_3|pages=iii345|doi=10.1093/neuonc/noaa222.297|issn=1522-8517|pmc=7715114}}</ref>)
<br />
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|''PIK3CA''
Co-deletion of 1p and 18q
|p.E545A
|<span class="blue-text">EXAMPLE:</span> Yes
|Oncogene
|<span class="blue-text">EXAMPLE:</span> No
<br />
|<span class="blue-text">EXAMPLE:</span> No
|Rare
|<span class="blue-text">EXAMPLE:</span>
|Nil
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|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>
==Gene Mutations (SNV / INDEL)==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable. Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Do not delete table.'') </span>
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
|''TERT''
!'''Diagnostic Significance (Yes, No or Unknown)'''
|Activating mutations in promoter region
!Prognostic Significance (Yes, No or Unknown)
|Oncogene
!Therapeutic Significance (Yes, No or Unknown)
|Rare
!Notes
|Nil
|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>
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|
<span class="blue-text">EXAMPLE:</span>
|
 
|
''EGFR''; Exon 20 mutations
|
|
|
|
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==


<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
On methylation profiling of a large series of DLGNTs, two methylation classes have been defined - DLGNT methylation class (MC)-1 and DLGNT methylation class (MC)-2. All cases of DLGNT-MC-2 exhibited gain of chr1q, with 1p/19q codeletion more common in DLGNT-MC-1<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>.
|<span class="blue-text">EXAMPLE:</span> TSG
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
|<span class="blue-text">EXAMPLE:</span> ''IDH1'' R123H
|<span class="blue-text">EXAMPLE:</span> ''EGFR'' amplification
|<span class="blue-text">EXAMPLE:</span> Yes
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference).
|}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
Put your text here
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
|''BRAF,  FGFR1''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|MAPK signaling
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|Increased cell growth and proliferation
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
|''FGFR1,  PIK3CA''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|PI3K–Akt  signaling pathway
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|Increased  cell growth, proliferation, survival and motility
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
| colspan="3" |
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
Put your text here
 
-         Fusion detection via targeted NGS (RNA or DNA panels) or FISH
 
-         Chromosomal alterations can be detected by FISH, SNP array, methylation array or NGS
 
-         Methylation profiling via CNS tumor classifiers for DLGNT-MCs
 
==Familial Forms==
==Familial Forms==
Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>
 
==Additional Information==
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>.  
Put your text here
 
==Links==
<br />
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==References==
==References==
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[[Category:CNS5]]
==Notes==
[[Category:DISEASE]]
<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 CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
[[Category:Diseases D]]
<references />
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