Compendium of Cancer Genome Aberrations

CNS5:Diffuse astrocytoma, MYB- or MYBL1-altered: Difference between revisions

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{{DISPLAYTITLE:Diffuse astrocytoma, MYB- or MYBL1-altered}}
{{DISPLAYTITLE:Diffuse astrocytoma, MYB- or MYBL1-altered}}
[[CNS5:Table_of_Contents|Central Nervous System Tumours(WHO Classification, 5th ed.)]]
[[CNS5:Table_of_Contents|Central Nervous System Tumours(WHO Classification, 5th ed.)]]


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Scott C. Smith, PhD, FACMG; SUNY Upstate Medical University
Scott C. Smith, PhD, FACMG; SUNY Upstate Medical University




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|-
|-
|Positive (universal)||GFAP<span lang="EN-US">Scott C. Smith,
|Positive (universal)||GFAP<span lang="EN-US">Scott C. Smith,
PhD, FACMG; SUNY Upstate Medical University</span>
 
PhD, FACMG; SUNY Upstate Medical University
|-
|-
|Positive (subset)||Ki-67 index below 1%
|Positive (subset)||Ki-67 index below 1%
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|
|
|Creates fusion oncogenic protein
|Creates fusion oncogenic protein
|}
|}




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|Yes
|Yes
|Yes
|Yes
|Yes<ref>{{Cite journal|last=Trkova|first=Katerina|last2=Sumerauer|first2=David|last3=Krskova|first3=Lenka|last4=Vicha|first4=Ales|last5=Koblizek|first5=Miroslav|last6=Votava|first6=Tomas|last7=Priban|first7=Vladimir|last8=Zapotocky|first8=Michal|date=2023-09|title=DIPG-like MYB-altered diffuse astrocytoma with durable response to intensive chemotherapy|url=https://pubmed.ncbi.nlm.nih.gov/37165121|journal=Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery|volume=39|issue=9|pages=2509–2513|doi=10.1007/s00381-023-05976-3|issn=1433-0350|pmc=PMC10432314|pmid=37165121}}</ref>  
|Yes<ref>{{Cite journal|last=Trkova|first=Katerina|last2=Sumerauer|first2=David|last3=Krskova|first3=Lenka|last4=Vicha|first4=Ales|last5=Koblizek|first5=Miroslav|last6=Votava|first6=Tomas|last7=Priban|first7=Vladimir|last8=Zapotocky|first8=Michal|date=2023-09|title=DIPG-like MYB-altered diffuse astrocytoma with durable response to intensive chemotherapy|url=https://pubmed.ncbi.nlm.nih.gov/37165121|journal=Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery|volume=39|issue=9|pages=2509–2513|doi=10.1007/s00381-023-05976-3|issn=1433-0350|pmc=PMC10432314|pmid=37165121}}</ref>
|<ref>{{Cite journal|last=Ramkissoon|first=Lori A.|last2=Horowitz|first2=Peleg M.|last3=Craig|first3=Justin M.|last4=Ramkissoon|first4=Shakti H.|last5=Rich|first5=Benjamin E.|last6=Schumacher|first6=Steven E.|last7=McKenna|first7=Aaron|last8=Lawrence|first8=Michael S.|last9=Bergthold|first9=Guillaume|date=2013-05-14|title=Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1|url=https://pubmed.ncbi.nlm.nih.gov/23633565|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=110|issue=20|pages=8188–8193|doi=10.1073/pnas.1300252110|issn=1091-6490|pmc=3657784|pmid=23633565}}</ref><ref>{{Cite journal|last=Bale|first=Tejus A.|last2=Rosenblum|first2=Marc K.|date=2022-07|title=The 2021 WHO Classification of Tumors of the Central Nervous System: An update on pediatric low-grade gliomas and glioneuronal tumors|url=https://pubmed.ncbi.nlm.nih.gov/35218102|journal=Brain Pathology (Zurich, Switzerland)|volume=32|issue=4|pages=e13060|doi=10.1111/bpa.13060|issn=1750-3639|pmc=9245930|pmid=35218102}}</ref><ref>{{Cite journal|last=Trkova|first=Katerina|last2=Sumerauer|first2=David|last3=Krskova|first3=Lenka|last4=Vicha|first4=Ales|last5=Koblizek|first5=Miroslav|last6=Votava|first6=Tomas|last7=Priban|first7=Vladimir|last8=Zapotocky|first8=Michal|date=2023-09|title=DIPG-like MYB-altered diffuse astrocytoma with durable response to intensive chemotherapy|url=https://pubmed.ncbi.nlm.nih.gov/37165121|journal=Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery|volume=39|issue=9|pages=2509–2513|doi=10.1007/s00381-023-05976-3|issn=1433-0350|pmc=PMC10432314|pmid=37165121}}</ref>
|<ref>{{Cite journal|last=Ramkissoon|first=Lori A.|last2=Horowitz|first2=Peleg M.|last3=Craig|first3=Justin M.|last4=Ramkissoon|first4=Shakti H.|last5=Rich|first5=Benjamin E.|last6=Schumacher|first6=Steven E.|last7=McKenna|first7=Aaron|last8=Lawrence|first8=Michael S.|last9=Bergthold|first9=Guillaume|date=2013-05-14|title=Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1|url=https://pubmed.ncbi.nlm.nih.gov/23633565|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=110|issue=20|pages=8188–8193|doi=10.1073/pnas.1300252110|issn=1091-6490|pmc=3657784|pmid=23633565}}</ref><ref>{{Cite journal|last=Bale|first=Tejus A.|last2=Rosenblum|first2=Marc K.|date=2022-07|title=The 2021 WHO Classification of Tumors of the Central Nervous System: An update on pediatric low-grade gliomas and glioneuronal tumors|url=https://pubmed.ncbi.nlm.nih.gov/35218102|journal=Brain Pathology (Zurich, Switzerland)|volume=32|issue=4|pages=e13060|doi=10.1111/bpa.13060|issn=1750-3639|pmc=9245930|pmid=35218102}}</ref><ref>{{Cite journal|last=Trkova|first=Katerina|last2=Sumerauer|first2=David|last3=Krskova|first3=Lenka|last4=Vicha|first4=Ales|last5=Koblizek|first5=Miroslav|last6=Votava|first6=Tomas|last7=Priban|first7=Vladimir|last8=Zapotocky|first8=Michal|date=2023-09|title=DIPG-like MYB-altered diffuse astrocytoma with durable response to intensive chemotherapy|url=https://pubmed.ncbi.nlm.nih.gov/37165121|journal=Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery|volume=39|issue=9|pages=2509–2513|doi=10.1007/s00381-023-05976-3|issn=1433-0350|pmc=PMC10432314|pmid=37165121}}</ref>
|-
|-
|8
|8
|Amp/Loss/Gain
|Amp/Loss/Gain
|67474410-67525453 [GRCh37]  
|67474410-67525453 [GRCh37]
|8q13.1
|8q13.1
|Yes
|Yes
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|-
|-
|6q23.3 hsr; '' MYB'' amplification <span lang="EN-US">Scott C. Smith,
|6q23.3 hsr; '' MYB'' amplification <span lang="EN-US">Scott C. Smith,
PhD, FACMG; SUNY Upstate Medical University</span>
 
PhD, FACMG; SUNY Upstate Medical University
|No
|No
|Unknown
|Unknown
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|-
|-
|8q13.1 hsr; ''MYBL1'' amplification<span lang="EN-US">Scott C. Smith,
|8q13.1 hsr; ''MYBL1'' amplification<span lang="EN-US">Scott C. Smith,
PhD, FACMG; SUNY Upstate Medical University</span>
 
PhD, FACMG; SUNY Upstate Medical University
|No
|No
|Unknown
|Unknown
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==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"
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|-
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|-
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
|-
|
|
|
|}


{| class="wikitable sortable"
{| class="wikitable sortable"
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Prior Author(s):
Prior Author(s):
<nowiki>*</nowiki>''Citation of this Page'': “Diffuse astrocytoma, MYB- or MYBL1-altered”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/CNS5:Diffuse astrocytoma, MYB- or MYBL1-altered</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Diffuse astrocytoma, MYB- or MYBL1-altered”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/CNS5:Diffuse astrocytoma, MYB- or MYBL1-altered</nowiki>.
[[Category:CNS5]][[Category:DISEASE]][[Category:Diseases D]]
[[Category:CNS5]]
[[Category:DISEASE]]
[[Category:Diseases D]]
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