Compendium of Cancer Genome Aberrations

CNS5:Diffuse leptomeningeal glioneuronal tumour: Difference between revisions

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<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)*==




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==


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|Diffuse leptomeningeal glioneuronal tumour
|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, 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/login WHO Classification of Tumours].


==Related Terminology==
==Related Terminology==
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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>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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|''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
|Yes (WHO)
|Yes (WHO)
|Case report evidence of efficacy of BRAF inhibitors in DLGNT case  harboring ''KIAA1549::BRAF'' fusion (PMCID: PMC7715974)
|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>
|-
|-
|''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
|Rare  
|Rare
|D,T
|D,T
|Yes (WHO)
|Yes (WHO)
|3 cases with ''NTRK1/2/3'' fusions (PMID: 29766299)
|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)
|Rare  
|Rare
|D
|D
|Yes (WHO)
|Yes (WHO)
|1 case with ''TRIM33::RAF1'' fusion (PMID: 29766299)
|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>
|-
|-
| colspan="8" |
| colspan="8" |
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==Individual Region Genomic Gain/Loss/LOH==
==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 rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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!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<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> 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<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>)
|
 
|<span class="blue-text">EXAMPLE:</span>
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>
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.
|-
|
|
|
|
|
|
|
|}
|}


==Characteristic Chromosomal or Other Global Mutational Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as 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; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. 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>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|Co-deletion of 1p and 19q
Co-deletion of 1p and 18q
|Unknown
|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|Recurrent to common
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
|D
|<span class="blue-text">EXAMPLE:</span> D, P
|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>
|
|-
|-
|<span class="blue-text">EXAMPLE:</span>
| colspan="6" |
Microsatellite instability - hypermutated
|
|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
|<span class="blue-text">EXAMPLE:</span> P, T
|
|
|-
|
|
|
|
|
|
|}
|}


==Gene Mutations (SNV/INDEL)==
==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 or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries 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. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') </span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|''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 />
<br />
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
|<span class="blue-text">EXAMPLE:</span> T
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|''PIK3CA''
|p.E545A
|Oncogene
<br />
<br />
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|Rare
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|Nil
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|No
|<span class="blue-text">EXAMPLE:</span> P
|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>
|
|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
|''TERT''
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|Activating mutations in promoter region
|<span class="blue-text">EXAMPLE:</span> Oncogene
|Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|Rare
|<span class="blue-text">EXAMPLE:</span> T
|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>
|-
|-
|
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==Epigenomic Alterations==
==Epigenomic Alterations==


 
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>.
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: Please include references throughout the table. Do not delete the 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==


-         Fusion detection via targeted NGS (RNA or DNA panels) or FISH


Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
-         Chromosomal alterations can be detected by FISH, SNP array, methylation array or NGS
==Familial Forms==


-         Methylation profiling via CNS tumor classifiers for DLGNT-MCs


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>
==Familial Forms==
==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
<br />
==Links==
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==References==
==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 on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as 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>
==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|''Associate Editor'']] 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):
<nowiki>*</nowiki>''Citation of this Page'': “Diffuse leptomeningeal glioneuronal tumour”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/CNS5:Diffuse leptomeningeal glioneuronal tumour</nowiki>.
[[Category:CNS5]]
[[Category:CNS5]]
[[Category:DISEASE]]
[[Category:DISEASE]]
[[Category:Diseases D]]
[[Category:Diseases D]]
<references />
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