CNS5:Oligodendroglioma, IDH-mutant and 1p/19q-codeleted: Difference between revisions
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{{DISPLAYTITLE:Oligodendroglioma, IDH-mutant and 1p/19q-codeleted}} | |||
[[CNS5:Table_of_Contents|Central Nervous System Tumours (WHO Classification, 5th ed.)]] | |||
{{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> | |||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
| Line 5: | Line 12: | ||
Shashirekha Shetty, PhD, Director, Cytogenetics Laboratory, Center for Human Genetics Laboratory, University Hospitals | Shashirekha Shetty, PhD, Director, Cytogenetics Laboratory, Center for Human Genetics Laboratory, University Hospitals | ||
==WHO Classification of Disease== | |||
= | {| class="wikitable" | ||
!Structure | |||
!Disease | |||
|- | |||
|Book | |||
|Central Nervous System Tumours (5th ed.) | |||
|- | |||
|Category | |||
|Gliomas, glioneuronal tumours, and neuronal tumours | |||
|- | |||
|Family | |||
|Gliomas, glioneuronal tumours, and neuronal tumours | |||
|- | |||
|Type | |||
|Adult-type diffuse gliomas | |||
|- | |||
|Subtype(s) | |||
|Oligodendroglioma, IDH-mutant and 1p/19q-codeleted | |||
|} | |||
==Related Terminology== | |||
{| class="wikitable" | {| class="wikitable" | ||
| | |+ | ||
| | |Acceptable | ||
|N/A | |||
|- | |- | ||
| | |Not Recommended | ||
| | |Anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted | ||
|} | |} | ||
== | ==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" | ||
|- | |- | ||
! | !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 | |||
|- | |- | ||
| | |<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2) | ||
|<span class="blue-text">EXAMPLE:</span> Common (CML) | |||
|<span class="blue-text">EXAMPLE:</span> D, P, T | |||
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN) | |||
|<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). BCR::ABL1 is generally favorable in CML (add reference). | |||
|- | |- | ||
| | |<span class="blue-text">EXAMPLE:</span> ''CIC'' | ||
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4'' | |||
|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''. | |||
|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13) | |||
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma) | |||
|<span class="blue-text">EXAMPLE:</span> D | |||
| | |||
|<span class="blue-text">EXAMPLE:</span> | |||
''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references). | |||
|- | |||
|<span class="blue-text">EXAMPLE:</span> ''ALK'' | |||
|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK'' | |||
Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1'' | |||
|<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18. | |||
|<span class="blue-text">EXAMPLE:</span> N/A | |||
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma) | |||
|<span class="blue-text">EXAMPLE:</span> T | |||
| | |||
|<span class="blue-text">EXAMPLE:</span> | |||
Both balanced and unbalanced forms are observed by FISH (add references). | |||
|- | |- | ||
| | |<span class="blue-text">EXAMPLE:</span> ''ABL1'' | ||
|<span class="blue-text">EXAMPLE:</span> N/A | |||
|<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways. | |||
|<span class="blue-text">EXAMPLE:</span> N/A | |||
|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma) | |||
|<span class="blue-text">EXAMPLE:</span> D, P, T | |||
| | |||
| | |||
|- | |- | ||
| | | | ||
| | |||
| | |||
| | |||
| | |||
| | |||
| | |||
| | |||
|} | |} | ||
'''Add content below into table above''' | |||
- Oligodendrogliomas are defined by a t(1;19)(q10;p10) rearrangement that results in 1p/19q whole-arm codeletion | - Oligodendrogliomas are defined by a t(1;19)(q10;p10) rearrangement that results in 1p/19q whole-arm codeletion | ||
| Line 147: | Line 129: | ||
|No | |No | ||
|1p/19q codeletion is the defining mutation of oligodendrogliomas and is required for diagnosis. Prognosis is dependent on histomorphologic grading<ref name=":6">{{Cite journal|last=Griffin|first=Constance A.|last2=Burger|first2=Peter|last3=Morsberger|first3=Laura|last4=Yonescu|first4=Raluca|last5=Swierczynski|first5=Sharon|last6=Weingart|first6=Jon D.|last7=Murphy|first7=Kathleen M.|date=2006-10|title=Identification of der(1;19)(q10;p10) in five oligodendrogliomas suggests mechanism of concurrent 1p and 19q loss|url=https://pubmed.ncbi.nlm.nih.gov/17021403|journal=Journal of Neuropathology and Experimental Neurology|volume=65|issue=10|pages=988–994|doi=10.1097/01.jnen.0000235122.98052.8f|issn=0022-3069|pmid=17021403}}</ref> <ref name=":7">{{Cite journal|last=Jenkins|first=Robert B.|last2=Blair|first2=Hilary|last3=Ballman|first3=Karla V.|last4=Giannini|first4=Caterina|last5=Arusell|first5=Robert M.|last6=Law|first6=Mark|last7=Flynn|first7=Heather|last8=Passe|first8=Sandra|last9=Felten|first9=Sara|date=2006-10-15|title=A t(1;19)(q10;p10) mediates the combined deletions of 1p and 19q and predicts a better prognosis of patients with oligodendroglioma|url=https://pubmed.ncbi.nlm.nih.gov/17047046|journal=Cancer Research|volume=66|issue=20|pages=9852–9861|doi=10.1158/0008-5472.CAN-06-1796|issn=0008-5472|pmid=17047046}}</ref> | |1p/19q codeletion is the defining mutation of oligodendrogliomas and is required for diagnosis. Prognosis is dependent on histomorphologic grading<ref name=":6">{{Cite journal|last=Griffin|first=Constance A.|last2=Burger|first2=Peter|last3=Morsberger|first3=Laura|last4=Yonescu|first4=Raluca|last5=Swierczynski|first5=Sharon|last6=Weingart|first6=Jon D.|last7=Murphy|first7=Kathleen M.|date=2006-10|title=Identification of der(1;19)(q10;p10) in five oligodendrogliomas suggests mechanism of concurrent 1p and 19q loss|url=https://pubmed.ncbi.nlm.nih.gov/17021403|journal=Journal of Neuropathology and Experimental Neurology|volume=65|issue=10|pages=988–994|doi=10.1097/01.jnen.0000235122.98052.8f|issn=0022-3069|pmid=17021403}}</ref> <ref name=":7">{{Cite journal|last=Jenkins|first=Robert B.|last2=Blair|first2=Hilary|last3=Ballman|first3=Karla V.|last4=Giannini|first4=Caterina|last5=Arusell|first5=Robert M.|last6=Law|first6=Mark|last7=Flynn|first7=Heather|last8=Passe|first8=Sandra|last9=Felten|first9=Sara|date=2006-10-15|title=A t(1;19)(q10;p10) mediates the combined deletions of 1p and 19q and predicts a better prognosis of patients with oligodendroglioma|url=https://pubmed.ncbi.nlm.nih.gov/17047046|journal=Cancer Research|volume=66|issue=20|pages=9852–9861|doi=10.1158/0008-5472.CAN-06-1796|issn=0008-5472|pmid=17047046}}</ref> | ||
|} | |} | ||
==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" | |||
|- | |||
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s) | |||
!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> | |||
7 | |||
|<span class="blue-text">EXAMPLE:</span> Loss | |||
|<span class="blue-text">EXAMPLE:</span> | |||
chr7 | |||
|<span class="blue-text">EXAMPLE:</span> | |||
Unknown | |||
|<span class="blue-text">EXAMPLE:</span> D, P | |||
|<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> | |||
8 | |||
|<span class="blue-text">EXAMPLE:</span> Gain | |||
|<span class="blue-text">EXAMPLE:</span> | |||
chr8 | |||
|<span class="blue-text">EXAMPLE:</span> | |||
Unknown | |||
|<span class="blue-text">EXAMPLE:</span> D, P | |||
| | |||
|<span class="blue-text">EXAMPLE:</span> | |||
Common recurrent secondary finding for t(8;21) (add references). | |||
|- | |||
|<span class="blue-text">EXAMPLE:</span> | |||
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. | |||
|- | |||
| | |||
| | |||
| | |||
| | |||
| | |||
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|} | |||
'''Add content below into table above''' | |||
Put your text here and fill in the table | Put your text here and fill in the table | ||
| Line 171: | Line 209: | ||
|Loss CDKN2A gene locus associated with shorter survival of grade 3<ref>{{Cite journal|last=Fallon|first=Kenneth B.|last2=Palmer|first2=Cheryl A.|last3=Roth|first3=Kevin A.|last4=Nabors|first4=L. Burton|last5=Wang|first5=Wenquan|last6=Carpenter|first6=Mark|last7=Banerjee|first7=Ruma|last8=Forsyth|first8=Peter|last9=Rich|first9=Keith|date=2004-04|title=Prognostic value of 1p, 19q, 9p, 10q, and EGFR-FISH analyses in recurrent oligodendrogliomas|url=https://pubmed.ncbi.nlm.nih.gov/15099021|journal=Journal of Neuropathology and Experimental Neurology|volume=63|issue=4|pages=314–322|doi=10.1093/jnen/63.4.314|issn=0022-3069|pmid=15099021}}</ref> <ref>{{Cite journal|last=Alentorn|first=Agustí|last2=Dehais|first2=Caroline|last3=Ducray|first3=François|last4=Carpentier|first4=Catherine|last5=Mokhtari|first5=Karima|last6=Figarella-Branger|first6=Dominique|last7=Chinot|first7=Olivier|last8=Cohen-Moyal|first8=Elisabeth|last9=Ramirez|first9=Carole|date=2015-10-13|title=Allelic loss of 9p21.3 is a prognostic factor in 1p/19q codeleted anaplastic gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26385879|journal=Neurology|volume=85|issue=15|pages=1325–1331|doi=10.1212/WNL.0000000000002014|issn=1526-632X|pmc=4617162|pmid=26385879}}</ref> | |Loss CDKN2A gene locus associated with shorter survival of grade 3<ref>{{Cite journal|last=Fallon|first=Kenneth B.|last2=Palmer|first2=Cheryl A.|last3=Roth|first3=Kevin A.|last4=Nabors|first4=L. Burton|last5=Wang|first5=Wenquan|last6=Carpenter|first6=Mark|last7=Banerjee|first7=Ruma|last8=Forsyth|first8=Peter|last9=Rich|first9=Keith|date=2004-04|title=Prognostic value of 1p, 19q, 9p, 10q, and EGFR-FISH analyses in recurrent oligodendrogliomas|url=https://pubmed.ncbi.nlm.nih.gov/15099021|journal=Journal of Neuropathology and Experimental Neurology|volume=63|issue=4|pages=314–322|doi=10.1093/jnen/63.4.314|issn=0022-3069|pmid=15099021}}</ref> <ref>{{Cite journal|last=Alentorn|first=Agustí|last2=Dehais|first2=Caroline|last3=Ducray|first3=François|last4=Carpentier|first4=Catherine|last5=Mokhtari|first5=Karima|last6=Figarella-Branger|first6=Dominique|last7=Chinot|first7=Olivier|last8=Cohen-Moyal|first8=Elisabeth|last9=Ramirez|first9=Carole|date=2015-10-13|title=Allelic loss of 9p21.3 is a prognostic factor in 1p/19q codeleted anaplastic gliomas|url=https://pubmed.ncbi.nlm.nih.gov/26385879|journal=Neurology|volume=85|issue=15|pages=1325–1331|doi=10.1212/WNL.0000000000002014|issn=1526-632X|pmc=4617162|pmid=26385879}}</ref> | ||
|} | |} | ||
==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" | |||
|- | |||
!Chromosomal Pattern | |||
!Molecular Pathogenesis | |||
!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 | |||
|- | |||
|<span class="blue-text">EXAMPLE:</span> | |||
Co-deletion of 1p and 18q | |||
|<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). | |||
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma) | |||
|<span class="blue-text">EXAMPLE:</span> D, P | |||
| | |||
| | |||
|- | |||
|<span class="blue-text">EXAMPLE:</span> | |||
Microsatellite instability - hypermutated | |||
| | |||
|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma) | |||
|<span class="blue-text">EXAMPLE:</span> P, T | |||
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|- | |||
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|} | |||
'''Add content below into table above''' | |||
Put your text here | Put your text here | ||
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|See chromosomal rearrangements table - this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma<ref name=":6" /> <ref name=":7" /> <ref>{{Cite journal|last=Wesseling|first=Pieter|last2=van den Bent|first2=Martin|last3=Perry|first3=Arie|date=2015-06|title=Oligodendroglioma: pathology, molecular mechanisms and markers|url=https://pubmed.ncbi.nlm.nih.gov/25943885|journal=Acta Neuropathologica|volume=129|issue=6|pages=809–827|doi=10.1007/s00401-015-1424-1|issn=1432-0533|pmc=4436696|pmid=25943885}}</ref> | |See chromosomal rearrangements table - this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma<ref name=":6" /> <ref name=":7" /> <ref>{{Cite journal|last=Wesseling|first=Pieter|last2=van den Bent|first2=Martin|last3=Perry|first3=Arie|date=2015-06|title=Oligodendroglioma: pathology, molecular mechanisms and markers|url=https://pubmed.ncbi.nlm.nih.gov/25943885|journal=Acta Neuropathologica|volume=129|issue=6|pages=809–827|doi=10.1007/s00401-015-1424-1|issn=1432-0533|pmc=4436696|pmid=25943885}}</ref> | ||
|} | |} | ||
==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" | |||
|- | |||
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!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 | |||
|- | |||
|<span class="blue-text">EXAMPLE:</span>''EGFR'' | |||
<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 | |||
<br /> | |||
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations | |||
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene | |||
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer) | |||
|<span class="blue-text">EXAMPLE:</span> P | |||
| | |||
|<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 | |||
|<span class="blue-text">EXAMPLE:</span> Activating mutations | |||
|<span class="blue-text">EXAMPLE:</span> Oncogene | |||
|<span class="blue-text">EXAMPLE:</span> Common (melanoma) | |||
|<span class="blue-text">EXAMPLE:</span> T | |||
| | |||
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|- | |||
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|}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. | |||
'''Add content below into table above''' | |||
Put your text here and fill in the table | Put your text here and fill in the table | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene; Genetic Alteration!! | !Gene; Genetic Alteration!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)!!Prevalence (COSMIC / TCGA / Other)!!Concomitant Mutations!!Mutually Exclusive Mutations | ||
! | !Diagnostic Significance (Yes, No or Unknown) | ||
!Prognostic Significance (Yes, No or Unknown) | !Prognostic Significance (Yes, No or Unknown) | ||
!Therapeutic Significance (Yes, No or Unknown) | !Therapeutic Significance (Yes, No or Unknown) | ||
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==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
<br /> | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
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==Familial Forms== | ==Familial Forms== | ||
- Germline mutations in ''POT1'' have been associated with familial oligodendroglioma<ref>{{Cite journal|last=Bainbridge|first=Matthew N.|last2=Armstrong|first2=Georgina N.|last3=Gramatges|first3=M. Monica|last4=Bertuch|first4=Alison A.|last5=Jhangiani|first5=Shalini N.|last6=Doddapaneni|first6=Harsha|last7=Lewis|first7=Lora|last8=Tombrello|first8=Joseph|last9=Tsavachidis|first9=Spyros|date=2015-01|title=Germline mutations in shelterin complex genes are associated with familial glioma|url=https://pubmed.ncbi.nlm.nih.gov/25482530|journal=Journal of the National Cancer Institute|volume=107|issue=1|pages=384|doi=10.1093/jnci/dju384|issn=1460-2105|pmc=4296199|pmid=25482530}}</ref> | - Germline mutations in ''POT1'' have been associated with familial oligodendroglioma<ref>{{Cite journal|last=Bainbridge|first=Matthew N.|last2=Armstrong|first2=Georgina N.|last3=Gramatges|first3=M. Monica|last4=Bertuch|first4=Alison A.|last5=Jhangiani|first5=Shalini N.|last6=Doddapaneni|first6=Harsha|last7=Lewis|first7=Lora|last8=Tombrello|first8=Joseph|last9=Tsavachidis|first9=Spyros|date=2015-01|title=Germline mutations in shelterin complex genes are associated with familial glioma|url=https://pubmed.ncbi.nlm.nih.gov/25482530|journal=Journal of the National Cancer Institute|volume=107|issue=1|pages=384|doi=10.1093/jnci/dju384|issn=1460-2105|pmc=4296199|pmid=25482530}}</ref> | ||
==Additional Information== | |||
This disease is <u>defined/characterized</u> as detailed below: | |||
*Can be called anaplastic oligodendroglioma (historical; now known as oligodendroglioma, IDH-mutant and 1p/19q-codeleted, CNS WHO grade 3). It is discouraged to call this entity oligoastrocytoma (oligodendroglioma and astrocytoma are molecularly distinct entities. The diagnosis is reserved for rare cases where a dual genotype is identified, or where molecular testing could not be completed). | |||
*A molecularly defined diffusely infiltrating glioma with IDH1 or IDH2 mutation and codeletion of chromosome arms 1p and 19q<ref name=":0">WHO Classification of Tumours Editorial Board. Central nervous system tumours. Lyon (France): International Agency for Research on Cancer; 2021. (WHO classification of tumours series, 5th ed.; vol. 6). <nowiki>https://publications.iarc.fr/601</nowiki>.</ref> . | |||
*Oligodendrogliomas are graded morphologically as either CNS WHO grade 2 or CNS WHO grade 3. | |||
*In rare cases where molecular studies are unable to be completed or have failed, tumors can be histologically diagnosed as Oligodendroglioma, NOS (not otherwise specified). | |||
The <u>epidemiology/prevalence</u> of this disease is detailed below: | |||
*Epidemiological statistics should be interpreted with caution as oligodendroglioma is now molecularly defined. | |||
**A subset of tumor historically diagnosed as oligodendroglioma on morphological grounds may therefore not meet current definition | |||
*Oligodendrogliomas occur primarily in adults (median age 43 years for CNS WHO grade 2 and 50 years for CNS WHO grade 3)<ref name=":1">{{Cite journal|last=Ostrom|first=Quinn T.|last2=Cioffi|first2=Gino|last3=Gittleman|first3=Haley|last4=Patil|first4=Nirav|last5=Waite|first5=Kristin|last6=Kruchko|first6=Carol|last7=Barnholtz-Sloan|first7=Jill S.|date=2019-11-01|title=CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2012-2016|url=https://pubmed.ncbi.nlm.nih.gov/31675094|journal=Neuro-Oncology|volume=21|issue=Suppl 5|pages=v1–v100|doi=10.1093/neuonc/noz150|issn=1523-5866|pmc=6823730|pmid=31675094}}</ref> | |||
**Slight male preponderance (M:F = 1.2:1<ref name=":1" />) | |||
*Low incidence worldwide | |||
**Incidence is changing over time due to refined molecular definition | |||
***Incidence rate (cases per 100,000 person-years) for histologically defined oligodendroglioma – 0.10% (Republic of Korea; <ref name=":2">{{Cite journal|last=Lee|first=Chang-Hyun|last2=Jung|first2=Kyu-Won|last3=Yoo|first3=Heon|last4=Park|first4=Sohee|last5=Lee|first5=Seung Hoon|date=2010-08|title=Epidemiology of primary brain and central nervous system tumors in Korea|url=https://pubmed.ncbi.nlm.nih.gov/20856664|journal=Journal of Korean Neurosurgical Society|volume=48|issue=2|pages=145–152|doi=10.3340/jkns.2010.48.2.145|issn=1598-7876|pmc=2941858|pmid=20856664}}</ref>), 0.50 (France <ref name=":3">{{Cite journal|last=Darlix|first=Amélie|last2=Zouaoui|first2=Sonia|last3=Rigau|first3=Valérie|last4=Bessaoud|first4=Faiza|last5=Figarella-Branger|first5=Dominique|last6=Mathieu-Daudé|first6=Hélène|last7=Trétarre|first7=Brigitte|last8=Bauchet|first8=Fabienne|last9=Duffau|first9=Hugues|date=2017-02|title=Epidemiology for primary brain tumors: a nationwide population-based study|url=https://pubmed.ncbi.nlm.nih.gov/27853959|journal=Journal of Neuro-Oncology|volume=131|issue=3|pages=525–546|doi=10.1007/s11060-016-2318-3|issn=1573-7373|pmid=27853959}}</ref>), 0.23 (USA 31675094<ref name=":1" />) | |||
***Incidence rate for histologically defined CNS WHO Grade 3 oligodendroglioma – 0.06% (Republic of Korea<ref name=":2" />), 0.39 (France <ref name=":3" />), 0.11 (USA<ref name=":1" />) | |||
**CNS WHO grade 2 oligodendrogliomas account for 0.9% of primary brain tumors in US (PMID: 34608945)<ref name=":1" /> | |||
**CNS WHO grade 3 oligodendrogliomas account of primary brain tumors in the US(PMID: 34608945)<ref name=":1" /> | |||
The <u>clinical features</u> of this disease are detailed below: | |||
Oligodendrogliomas are most often low-grade, slow growing tumors | |||
*Tumors are frequently asymptomatic and are increasingly found incidentally on imaging for other indications<ref name=":20">{{Cite journal|last=Wijnenga|first=Maarten M. J.|last2=French|first2=Pim J.|last3=Dubbink|first3=Hendrikus J.|last4=Dinjens|first4=Winand N. M.|last5=Atmodimedjo|first5=Peggy N.|last6=Kros|first6=Johan M.|last7=Smits|first7=Marion|last8=Gahrmann|first8=Renske|last9=Rutten|first9=Geert-Jan|date=2018-01-10|title=The impact of surgery in molecularly defined low-grade glioma: an integrated clinical, radiological, and molecular analysis|url=https://pubmed.ncbi.nlm.nih.gov/29016833|journal=Neuro-Oncology|volume=20|issue=1|pages=103–112|doi=10.1093/neuonc/nox176|issn=1523-5866|pmc=5761503|pmid=29016833}}</ref> | |||
*Most commonly present with seizures<ref name=":4">{{Cite journal|last=Zetterling|first=Maria|last2=Berhane|first2=Luwam|last3=Alafuzoff|first3=Irina|last4=Jakola|first4=Asgeir S.|last5=Smits|first5=Anja|date=2017|title=Prognostic markers for survival in patients with oligodendroglial tumors; a single-institution review of 214 cases|url=https://pubmed.ncbi.nlm.nih.gov/29186201|journal=PloS One|volume=12|issue=11|pages=e0188419|doi=10.1371/journal.pone.0188419|issn=1932-6203|pmc=5706698|pmid=29186201}}</ref> | |||
*Can present with focal neurologic deficits or cognitive changes secondary to increased cranial pressure, especially in the high-grade setting<ref name=":4" /> | |||
*Signs and symptoms - Seizures<ref name=":4" />; Headache; Signs of increased intracranial pressure (Focal neurologic deficits, Cognitive changes); Asymptomatic (increasingly an incidental finding on neuroimaging<ref name=":4" />) | |||
*Laboratory findings - Not applicable | |||
The <u>sites of involvement</u> of this disease are detailed below: | |||
*Approximately 60% of oligodendrogliomas occur within the frontal lobes with | |||
**14-16% in the temporal lobe | |||
**10-15% in the parietal lobe | |||
**1-6% in the occipital lobe | |||
**Less commonly basal ganglia / cerebellum brainstem | |||
*Leptomeningeal spread and gliomatosis cerebri pattern can rarely occur | |||
*Rare spinal lesions have been reported but lack genotyping to confirm true oligodendroglioma | |||
*Extracranial metastasis exceedingly rare (CNS WHO grade 3) | |||
The <u>morphologic features</u> of this disease are detailed below: | |||
*Classically consist of cells with round, monomorphous nuclei with stippled chromatin and perinuclear halos (artifactual fried-egg appearance) | |||
**Intervening delicate “chicken wire” vasculature | |||
**Can contain GFAP-positive minigemistocytes | |||
**Often contain microcalcifications, especially in low-grade tumors<ref name=":0" /> | |||
The <u>immunophenotype</u> of this disease is detailed below: | |||
*Positive (universal) - Retained nuclear ATRX<ref name=":5">{{Cite journal|last=Liu|first=Xiao-Yang|last2=Gerges|first2=Noha|last3=Korshunov|first3=Andrey|last4=Sabha|first4=Nesrin|last5=Khuong-Quang|first5=Dong-Anh|last6=Fontebasso|first6=Adam M.|last7=Fleming|first7=Adam|last8=Hadjadj|first8=Djihad|last9=Schwartzentruber|first9=Jeremy|date=2012-11|title=Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations|url=https://pubmed.ncbi.nlm.nih.gov/22886134|journal=Acta Neuropathologica|volume=124|issue=5|pages=615–625|doi=10.1007/s00401-012-1031-3|issn=1432-0533|pmid=22886134}}</ref>, OLIG2<ref name=":21">{{Cite journal|last=Ligon|first=Keith L.|last2=Alberta|first2=John A.|last3=Kho|first3=Alvin T.|last4=Weiss|first4=Jennifer|last5=Kwaan|first5=Mary R.|last6=Nutt|first6=Catherine L.|last7=Louis|first7=David N.|last8=Stiles|first8=Charles D.|last9=Rowitch|first9=David H.|date=2004-05|title=The oligodendroglial lineage marker OLIG2 is universally expressed in diffuse gliomas|url=https://pubmed.ncbi.nlm.nih.gov/15198128|journal=Journal of Neuropathology and Experimental Neurology|volume=63|issue=5|pages=499–509|doi=10.1093/jnen/63.5.499|issn=0022-3069|pmid=15198128}}</ref>, S100<ref name=":22">{{Cite journal|last=Reifenberger|first=G.|last2=Szymas|first2=J.|last3=Wechsler|first3=W.|date=1987|title=Differential expression of glial- and neuronal-associated antigens in human tumors of the central and peripheral nervous system|url=https://pubmed.ncbi.nlm.nih.gov/3314309|journal=Acta Neuropathologica|volume=74|issue=2|pages=105–123|doi=10.1007/BF00692841|issn=0001-6322|pmid=3314309}}</ref>, MAP2<ref name=":23">{{Cite journal|last=Blümcke|first=I.|last2=Becker|first2=A. J.|last3=Normann|first3=S.|last4=Hans|first4=V.|last5=Riederer|first5=B. M.|last6=Krajewski|first6=S.|last7=Wiestler|first7=O. D.|last8=Reifenberger|first8=G.|date=2001-10|title=Distinct expression pattern of microtubule-associated protein-2 in human oligodendrogliomas and glial precursor cells|url=https://pubmed.ncbi.nlm.nih.gov/11589429|journal=Journal of Neuropathology and Experimental Neurology|volume=60|issue=10|pages=984–993|doi=10.1093/jnen/60.10.984|issn=0022-3069|pmid=11589429}}</ref>, SOX10<ref name=":24">{{Cite journal|last=Bannykh|first=Sergei I.|last2=Stolt|first2=C. Claus|last3=Kim|first3=Jung|last4=Perry|first4=Arie|last5=Wegner|first5=Michael|date=2006-01|title=Oligodendroglial-specific transcriptional factor SOX10 is ubiquitously expressed in human gliomas|url=https://pubmed.ncbi.nlm.nih.gov/16205963|journal=Journal of Neuro-Oncology|volume=76|issue=2|pages=115–127|doi=10.1007/s11060-005-5533-x|issn=0167-594X|pmid=16205963}}</ref> | |||
*Positive (subset) - Most positive for IDH1 p.R132H mutation (smaller subset lacking staining have non-canonical IDH mutation, <10%)<ref name=":25">{{Cite journal|last=Capper|first=David|last2=Zentgraf|first2=Hanswalter|last3=Balss|first3=Jörg|last4=Hartmann|first4=Christian|last5=von Deimling|first5=Andreas|date=2009-11|title=Monoclonal antibody specific for IDH1 R132H mutation|url=https://pubmed.ncbi.nlm.nih.gov/19798509|journal=Acta Neuropathologica|volume=118|issue=5|pages=599–601|doi=10.1007/s00401-009-0595-z|issn=1432-0533|pmid=19798509}}</ref>, Synaptophysin (cytoplasmic dot-like pattern<ref name=":26">{{Cite journal|last=Perry|first=Arie|last2=Burton|first2=Stephanie S.|last3=Fuller|first3=Gregory N.|last4=Robinson|first4=Christopher A.|last5=Palmer|first5=Cheryl A.|last6=Resch|first6=Lothar|last7=Bigio|first7=Eileen H.|last8=Gujrati|first8=Meena|last9=Rosenblum|first9=Marc K.|date=2010-08|title=Oligodendroglial neoplasms with ganglioglioma-like maturation: a diagnostic pitfall|url=https://pubmed.ncbi.nlm.nih.gov/20464403|journal=Acta Neuropathologica|volume=120|issue=2|pages=237–252|doi=10.1007/s00401-010-0695-9|issn=1432-0533|pmc=2892612|pmid=20464403}}</ref>) | |||
*Negative (universal) - Lack diffuse p53<ref name=":5" /> | |||
*Negative (subset) - N/A | |||
==Links== | ==Links== | ||
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<references /> | <references /> | ||
==Notes== | ==Notes== | ||
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. | |||
<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. | |||
Prior Author(s): | |||
<nowiki>*</nowiki>''Citation of this Page'': “Oligodendroglioma, IDH-mutant and 1p/19q-codeleted”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/CNS5:Oligodendroglioma, IDH-mutant and 1p/19q-codeleted</nowiki>. | |||
[[Category:CNS5]] | |||
[[Category:DISEASE]] | |||
[[Category:Diseases O]] | |||