Compendium of Cancer Genome Aberrations

CNS5:Diffuse leptomeningeal glioneuronal tumour: Difference between revisions

[checked revision][checked revision]
← Older edit
VisualWikitext
references inserted
finalising page
 
(5 intermediate revisions by 2 users not shown)
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)*==


Line 31: Line 31:
|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==
Line 58: Line 44:


==Gene Rearrangements==
==Gene Rearrangements==
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
Line 69: Line 54:
|''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
Line 77: Line 61:
|-
|-
|''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 85: Line 69:
|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)
Line 147: Line 130:
|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 161:
|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 169:
|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>
|-
|-
|
|
Retrieved from "https://test.ccga.io/index.php/CNS5:Diffuse_leptomeningeal_glioneuronal_tumour"