CNS5:Diffuse astrocytoma, MYB- or MYBL1-altered - Revision history

Bailey.Glen at 17:34, 3 July 2025

2025-07-03T17:34:32Z

← Older revision		Revision as of 12:34, 3 July 2025
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	\|}		\|}

	~~==WHO Essential and Desirable Genetic Diagnostic Criteria==~~
	<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-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/home <u>WHO Classification of Tumours</u>].
	==Related Terminology==		==Related Terminology==

Bailey.Glen at 21:53, 25 May 2025

2025-05-25T21:53:59Z

← Older revision		Revision as of 16:53, 25 May 2025
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	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Chr #!!~~'''~~Gain, Loss, Amp, LOH~~'''~~!!~~'''~~Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]~~'''~~!!~~'''~~Relevant Gene(s)~~'''~~		!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~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~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>		\|<span class="blue-text">EXAMPLE:</span>
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	!Chromosomal Pattern		!Chromosomal Pattern
	!Molecular Pathogenesis		!Molecular Pathogenesis
	!~~'''~~Prevalence -~~'''~~		!Prevalence -
	~~'''~~Common >20%, Recurrent 5-20% or Rare <5% (Disease)~~'''~~		Common >20%, Recurrent 5-20% or Rare <5% (Disease)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~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>		\|<span class="blue-text">EXAMPLE:</span>

Bailey.Glen at 20:39, 25 May 2025

2025-05-25T20:39:30Z

← Older revision		Revision as of 15:39, 25 May 2025
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	<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].		<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
	==Related Terminology==		==Related Terminology==
	~~<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>~~
	{\| class="wikitable"		{\| class="wikitable"
	\|+		\|+
	\|Acceptable		\|Acceptable
	\|		\|N/A
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|Isomorphic astrocytoma variant; isomorphic diffuse glioma
	\|}		\|}

Bailey.Glen at 19:38, 25 May 2025

2025-05-25T19:38:09Z

← Older revision		Revision as of 14:38, 25 May 2025
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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.)]]

	{{Under Construction}}		{{Under Construction}}

Jennelleh at 01:30, 28 March 2025

2025-03-28T01:30:51Z

@@ Line 9: / Line 9: @@
 Scott C. Smith, PhD, FACMG; SUNY Upstate Medical University
 ==WHO Classification of Disease==
@@ Line 31: / Line 30: @@
 |Subtype(s)
 |Diffuse astrocytoma, MYB- or MYBL1-altered
 |}

Jennelleh at 20:40, 27 March 2025

2025-03-27T20:40:18Z

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Jennelleh at 20:29, 27 March 2025

2025-03-27T20:29:54Z

@@ Line 346: / Line 346: @@
 |Overexpression  of MYB/MYBL1
 |}
 ==Genetic Diagnostic Testing Methods==
 Sequencing, PCR, RT-PCR, chromosomal microarray, FISH, possibly detection of double minutes or homogenously stained regions by G-banding
 ==References==

Bailey.Glen: /* Genes and Main Pathways Involved */

2025-03-27T14:44:20Z

Genes and Main Pathways Involved

← Older revision		Revision as of 09:44, 27 March 2025
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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]]

Bailey.Glen at 17:51, 24 March 2025

2025-03-24T17:51:54Z

Show changes

Laveniya.Satgunaseelan: /* Primary Author(s)* */

2024-07-30T21:04:09Z

Primary Author(s)*

Show changes