Compendium of Cancer Genome Aberrations

CNS5:Astrocytoma, IDH-mutant: Difference between revisions

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{{DISPLAYTITLE:Astrocytoma, IDH-mutant}}
{{DISPLAYTITLE:Astrocytoma, IDH-mutant}}
[[CNS5:Table_of_Contents|Central Nervous System Tumours (WHO Classification, 5th ed.)]]
[[CNS5:Table_of_Contents|Central Nervous System Tumours (WHO Classification, 5th ed.)]]


{{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>
==Primary Author(s)*==
==Primary Author(s)*==
Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
Meenakshi Mehrotra, PhD, Mount Sinai Health System, New York
==WHO Classification of Disease==
==WHO Classification of Disease==


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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>
<br />
{| 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> ''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)
|''MET''
|<span class="blue-text">EXAMPLE:</span> Common (CML)
|''PTPRZ1::MET''
|<span class="blue-text">EXAMPLE:</span> D, P, T
|N/A
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
|N/A
|<span class="blue-text">EXAMPLE:</span>
|Rare (~1%)
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).
|P
|No
|MET fusions and splicing variants convergently define a subgroup  of glioma sensitive to MET inhibitors<ref>{{Cite journal|last=Liu|first=Lingyu|last2=Zhang|first2=Ke-Nan|last3=Zhao|first3=Zheng|last4=Li|first4=Guanzhang|last5=Chai|first5=Rui-Chao|last6=Li|first6=Zhuoqun|last7=Liu|first7=Xing|last8=Chen|first8=Jing|last9=Jiang|first9=Tao|date=2024-05|title=MET fusions and splicing variants is a strong adverse prognostic factor in astrocytoma, isocitrate dehydrogenase mutant|url=https://pubmed.ncbi.nlm.nih.gov/37530224|journal=Brain Pathology (Zurich, Switzerland)|volume=34|issue=3|pages=e13198|doi=10.1111/bpa.13198|issn=1750-3639|pmc=11007006|pmid=37530224}}</ref><ref>{{Cite journal|last=Wong|first=Queenie Hoi-Wing|last2=Li|first2=Kay Ka-Wai|last3=Wang|first3=Wei-Wei|last4=Malta|first4=Tathiane M.|last5=Noushmehr|first5=Houtan|last6=Grabovska|first6=Yura|last7=Jones|first7=Chris|last8=Chan|first8=Aden Ka-Yin|last9=Kwan|first9=Johnny Sheung-Him|date=2021-07|title=Molecular landscape of IDH-mutant primary astrocytoma Grade IV/glioblastomas|url=https://pubmed.ncbi.nlm.nih.gov/33692446|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=34|issue=7|pages=1245–1260|doi=10.1038/s41379-021-00778-x|issn=1530-0285|pmid=33692446}}</ref>
|-
|''NTRK2''
|''GOLGA1::NTRK2''
|N/A
|N/A
|Rare (observed in single case report)
|P, T
|No
|Single case report<ref>{{Cite journal|last=Kirishima|first=Mari|last2=Akahane|first2=Toshiaki|last3=Higa|first3=Nayuta|last4=Suzuki|first4=Shinsuke|last5=Ueno|first5=Shinichi|last6=Yonezawa|first6=Hajime|last7=Uchida|first7=Hiroyuki|last8=Hanaya|first8=Ryosuke|last9=Yoshimoto|first9=Koji|date=2022-11|title=IDH-mutant astrocytoma with an evolutional progression to CDKN2A/B homozygous deletion and NTRK fusion during recurrence: A case report|url=https://pubmed.ncbi.nlm.nih.gov/36265224|journal=Pathology, Research and Practice|volume=239|pages=154163|doi=10.1016/j.prp.2022.154163|issn=1618-0631|pmid=36265224}}</ref>  
|-
|''NTRK2''
|''CDK5RAP2::NTRK2''
|N/A
|N/A
|Rare (observed in single case report)
|P, T
|No
|Single case report<ref>{{Cite journal|last=Kirishima|first=Mari|last2=Akahane|first2=Toshiaki|last3=Higa|first3=Nayuta|last4=Suzuki|first4=Shinsuke|last5=Ueno|first5=Shinichi|last6=Yonezawa|first6=Hajime|last7=Uchida|first7=Hiroyuki|last8=Hanaya|first8=Ryosuke|last9=Yoshimoto|first9=Koji|date=2022-11|title=IDH-mutant astrocytoma with an evolutional progression to CDKN2A/B homozygous deletion and NTRK fusion during recurrence: A case report|url=https://pubmed.ncbi.nlm.nih.gov/36265224|journal=Pathology, Research and Practice|volume=239|pages=154163|doi=10.1016/j.prp.2022.154163|issn=1618-0631|pmid=36265224}}</ref>
|-
|-
|<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
|
|
|
|
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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|9
7
|loss
|<span class="blue-text">EXAMPLE:</span> Loss
|chr9:21,967,752-21,995,324
|<span class="blue-text">EXAMPLE:</span>
|''CDKN2A''
chr7
|P
|<span class="blue-text">EXAMPLE:</span>
|Yes  (WHO CNS5)
Unknown
|Poorer prognosis<ref>{{Cite journal|last=Yang|first=Rui Ryan|last2=Shi|first2=Zhi-Feng|last3=Zhang|first3=Zhen-Yu|last4=Chan|first4=Aden Ka-Yin|last5=Aibaidula|first5=Abudumijiti|last6=Wang|first6=Wei-Wei|last7=Kwan|first7=Johnny Sheung Him|last8=Poon|first8=Wai Sang|last9=Chen|first9=Hong|date=2020-05|title=IDH mutant lower grade (WHO Grades II/III) astrocytomas can be stratified for risk by CDKN2A, CDK4 and PDGFRA copy number alterations|url=https://pubmed.ncbi.nlm.nih.gov/31733156|journal=Brain Pathology (Zurich, Switzerland)|volume=30|issue=3|pages=541–553|doi=10.1111/bpa.12801|issn=1750-3639|pmc=8018138|pmid=31733156}}</ref>
|<span class="blue-text">EXAMPLE:</span> D, P
|-
|<span class="blue-text">EXAMPLE:</span> No
|9
|<span class="blue-text">EXAMPLE:</span>
|loss
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).
|chr9:22,002,903-22,009,313
|''CDKN2B''
|P
|Yes  (WHO CNS5)
|Poorer prognosis<ref>{{Cite journal|last=Lee|first=Kwanghoon|last2=Kim|first2=Seong-Ik|last3=Kim|first3=Eric Eunshik|last4=Shim|first4=Yu-Mi|last5=Won|first5=Jae-Kyung|last6=Park|first6=Chul-Kee|last7=Choi|first7=Seung Hong|last8=Yun|first8=Hongseok|last9=Lee|first9=Hyunju|date=2023-04-25|title=Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis|url=https://pubmed.ncbi.nlm.nih.gov/37185778|journal=Scientific Reports|volume=13|issue=1|pages=6761|doi=10.1038/s41598-023-32153-y|issn=2045-2322|pmc=10130138|pmid=37185778}}</ref>
|-
|12
|amp
|chr12:57,747,727-57,756,013
|''CDK4''
|P,T
|No
|Poorer prognosis<ref>{{Cite journal|last=Yang|first=Rui Ryan|last2=Shi|first2=Zhi-Feng|last3=Zhang|first3=Zhen-Yu|last4=Chan|first4=Aden Ka-Yin|last5=Aibaidula|first5=Abudumijiti|last6=Wang|first6=Wei-Wei|last7=Kwan|first7=Johnny Sheung Him|last8=Poon|first8=Wai Sang|last9=Chen|first9=Hong|date=2020-05|title=IDH mutant lower grade (WHO Grades II/III) astrocytomas can be stratified for risk by CDKN2A, CDK4 and PDGFRA copy number alterations|url=https://pubmed.ncbi.nlm.nih.gov/31733156|journal=Brain Pathology (Zurich, Switzerland)|volume=30|issue=3|pages=541–553|doi=10.1111/bpa.12801|issn=1750-3639|pmc=8018138|pmid=31733156}}</ref>
|-
|13
|loss
|chr13:48,303,744-48,599,436
|''RB1''
|P
|No
|<ref>{{Cite journal|last=Shirahata|first=Mitsuaki|last2=Ono|first2=Takahiro|last3=Stichel|first3=Damian|last4=Schrimpf|first4=Daniel|last5=Reuss|first5=David E.|last6=Sahm|first6=Felix|last7=Koelsche|first7=Christian|last8=Wefers|first8=Annika|last9=Reinhardt|first9=Annekathrin|date=2018-07|title=Novel, improved grading system(s) for IDH-mutant astrocytic gliomas|url=https://pubmed.ncbi.nlm.nih.gov/29687258|journal=Acta Neuropathologica|volume=136|issue=1|pages=153–166|doi=10.1007/s00401-018-1849-4|issn=1432-0533|pmid=29687258}}</ref>
|-
|4
|amp
|chr4:54,229,280-54,298,245
|''PDGFRA''
|P
|No
|Poorer prognosis<ref>{{Cite journal|last=Yang|first=Rui Ryan|last2=Shi|first2=Zhi-Feng|last3=Zhang|first3=Zhen-Yu|last4=Chan|first4=Aden Ka-Yin|last5=Aibaidula|first5=Abudumijiti|last6=Wang|first6=Wei-Wei|last7=Kwan|first7=Johnny Sheung Him|last8=Poon|first8=Wai Sang|last9=Chen|first9=Hong|date=2020-05|title=IDH mutant lower grade (WHO Grades II/III) astrocytomas can be stratified for risk by CDKN2A, CDK4 and PDGFRA copy number alterations|url=https://pubmed.ncbi.nlm.nih.gov/31733156|journal=Brain Pathology (Zurich, Switzerland)|volume=30|issue=3|pages=541–553|doi=10.1111/bpa.12801|issn=1750-3639|pmc=8018138|pmid=31733156}}</ref>
|-
|2
|amp
|chr2:15,940,550-15,947,007
|''MYCN''
|P
|No
|PMID: 29687258; PMID: 37185778; poorer  prognosis
|-
|7
|amp
|chr7:116,672,196-116,798,377
|''MET''
|
|No
|PMID: 31667475
|-
|10
|loss
|chr10:87863113-87971930
|''PTEN''
|P
|No
|PMID: 37185778
|-
|-
|<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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Prior Author(s):
Prior Author(s):
<nowiki>*</nowiki>''Citation of this Page'': “Astrocytoma, IDH-mutant”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/CNS5:Astrocytoma, IDH-mutant</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Astrocytoma, IDH-mutant”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/CNS5:Astrocytoma, IDH-mutant</nowiki>.
[[Category:CNS5]][[Category:DISEASE]][[Category:Diseases A]]
[[Category:CNS5]]
[[Category:DISEASE]]
[[Category:Diseases A]]
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