CNS5:Medulloblastoma, WNT-activated - Revision history

Bailey.Glen at 17:38, 3 July 2025

2025-07-03T17:38:40Z

← Older revision		Revision as of 12:38, 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 21:59, 25 May 2025

2025-05-25T21:59:02Z

← Older revision		Revision as of 16:59, 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
	\|-		\|-
	\|		\|
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	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Gene!!~~'''~~Genetic Alteration~~'''~~!!~~'''~~Tumor Suppressor Gene, Oncogene, Other~~'''~~!!~~'''~~Prevalence -~~'''~~		!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!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>''EGFR''		\|<span class="blue-text">EXAMPLE:</span>''EGFR''
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	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Gene; Genetic Alteration!!~~'''~~Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)~~'''~~!!~~'''~~Prevalence (COSMIC / TCGA / Other)~~'''~~!!~~'''~~Concomitant Mutations~~'''~~!!~~'''~~Mutually Exclusive Mutations~~'''~~		!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)~~'''~~		!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)

Bailey.Glen at 20:44, 25 May 2025

2025-05-25T20:44:01Z

← Older revision		Revision as of 15:44, 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
	\|		\|N/A
	\|}		\|}

Bailey.Glen at 19:43, 25 May 2025

2025-05-25T19:43:12Z

← Older revision		Revision as of 14:43, 25 May 2025
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	{{DISPLAYTITLE:Medulloblastoma, WNT-activated}}		{{DISPLAYTITLE:Medulloblastoma, WNT-activated}}

	[[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 02:05, 28 March 2025

2025-03-28T02:05:41Z

← Older revision		Revision as of 21:05, 27 March 2025
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	\|''APC''		\|''APC''
	\|Yes		\|Yes
	\|Yes – Favorable prognosis<ref name=":3">{{Cite journal\|last=Surun\|first=Aurore\|last2=Varlet\|first2=Pascale\|last3=Brugières\|first3=Laurence\|last4=Lacour\|first4=Brigitte\|last5=Faure-Conter\|first5=Cécile\|last6=Leblond\|first6=Pierre\|last7=Bertozzi-Salomon\|first7=Anne-Isabelle\|last8=Berger\|first8=Claire\|last9=André\|first9=Nicolas\|date=2020-01-11\|title=Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas\|url=https://pubmed.ncbi.nlm.nih.gov/31504825\|journal=Neuro-Oncology\|volume=22\|issue=1\|pages=128–138\|doi=10.1093/neuonc/noz154\|issn=1523-5866\|pmc=6954432\|pmid=31504825}}</ref> ~~(PMID: 31504825)~~		\|Yes – Favorable prognosis<ref name=":3">{{Cite journal\|last=Surun\|first=Aurore\|last2=Varlet\|first2=Pascale\|last3=Brugières\|first3=Laurence\|last4=Lacour\|first4=Brigitte\|last5=Faure-Conter\|first5=Cécile\|last6=Leblond\|first6=Pierre\|last7=Bertozzi-Salomon\|first7=Anne-Isabelle\|last8=Berger\|first8=Claire\|last9=André\|first9=Nicolas\|date=2020-01-11\|title=Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas\|url=https://pubmed.ncbi.nlm.nih.gov/31504825\|journal=Neuro-Oncology\|volume=22\|issue=1\|pages=128–138\|doi=10.1093/neuonc/noz154\|issn=1523-5866\|pmc=6954432\|pmid=31504825}}</ref>
	\|No		\|No
	\|~85% of cases<ref name=":1" />; Somatic		\|~85% of cases<ref name=":1" />; Somatic

Jennelleh at 02:04, 28 March 2025

2025-03-28T02:04:26Z

← Older revision		Revision as of 21:04, 27 March 2025
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	'''Add content below into table above''' -		'''Add content below into table above''' -
	· Characterized by constitutive activation of the WNT signaling pathway. This occurs in approximately 85-90% of WNT-subtype medulloblastomas via somatic, gain-of-function, mutations in exon 3 of the ''CTNNB1'' gene ~~(PMID~~: ~~30765705)~~.		· Characterized by constitutive activation of the WNT signaling pathway. This occurs in approximately 85-90% of WNT-subtype medulloblastomas via somatic, gain-of-function, mutations in exon 3 of the ''CTNNB1'' gene<ref name=":2" />.

	· Patients without activating ''CTNNB1'' somatic mutations often have germline loss-of-function variants in ''APC'', which then also lead to constitutively increased WNT pathway signaling ~~(PMID~~: 29753700)		· Patients without activating ''CTNNB1'' somatic mutations often have germline loss-of-function variants in ''APC'', which then also lead to constitutively increased WNT pathway signaling<ref>{{Cite journal\|last=Waszak\|first=Sebastian M.\|last2=Northcott\|first2=Paul A.\|last3=Buchhalter\|first3=Ivo\|last4=Robinson\|first4=Giles W.\|last5=Sutter\|first5=Christian\|last6=Groebner\|first6=Susanne\|last7=Grund\|first7=Kerstin B.\|last8=Brugières\|first8=Laurence\|last9=Jones\|first9=David T. W.\|date=2018-06\|title=Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort\|url=https://pubmed.ncbi.nlm.nih.gov/29753700\|journal=The Lancet. Oncology\|volume=19\|issue=6\|pages=785–798\|doi=10.1016/S1470-2045(18)30242-0\|issn=1474-5488\|pmc=5984248\|pmid=29753700}}</ref>

	· The WNT-subtype has the second highest somatic single nucleotide burden of all subgroups with ~1,800 per genome. ''DDX3X'', ''SMARCA4'', ''TP53'', ''CSNK2B'', ''PIK3CA'', and ''EPHA7'' are among the most recurrently mutated genes ~~(PMIDs~~: ~~28726821;~~ 22832583, 22820256, 22722829)		· The WNT-subtype has the second highest somatic single nucleotide burden of all subgroups with ~1,800 per genome. ''DDX3X'', ''SMARCA4'', ''TP53'', ''CSNK2B'', ''PIK3CA'', and ''EPHA7'' are among the most recurrently mutated genes<ref name=":1" /><ref>{{Cite journal\|last=Jones\|first=David T. W.\|last2=Jäger\|first2=Natalie\|last3=Kool\|first3=Marcel\|last4=Zichner\|first4=Thomas\|last5=Hutter\|first5=Barbara\|last6=Sultan\|first6=Marc\|last7=Cho\|first7=Yoon-Jae\|last8=Pugh\|first8=Trevor J.\|last9=Hovestadt\|first9=Volker\|date=2012-08-02\|title=Dissecting the genomic complexity underlying medulloblastoma\|url=https://pubmed.ncbi.nlm.nih.gov/22832583\|journal=Nature\|volume=488\|issue=7409\|pages=100–105\|doi=10.1038/nature11284\|issn=1476-4687\|pmc=3662966\|pmid=22832583}}</ref><ref>{{Cite journal\|last=Pugh\|first=Trevor J.\|last2=Weeraratne\|first2=Shyamal Dilhan\|last3=Archer\|first3=Tenley C.\|last4=Pomeranz Krummel\|first4=Daniel A.\|last5=Auclair\|first5=Daniel\|last6=Bochicchio\|first6=James\|last7=Carneiro\|first7=Mauricio O.\|last8=Carter\|first8=Scott L.\|last9=Cibulskis\|first9=Kristian\|date=2012-08-02\|title=Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations\|url=https://pubmed.ncbi.nlm.nih.gov/22820256\|journal=Nature\|volume=488\|issue=7409\|pages=106–110\|doi=10.1038/nature11329\|issn=1476-4687\|pmc=3413789\|pmid=22820256}}</ref><ref>{{Cite journal\|last=Robinson\|first=Giles\|last2=Parker\|first2=Matthew\|last3=Kranenburg\|first3=Tanya A.\|last4=Lu\|first4=Charles\|last5=Chen\|first5=Xiang\|last6=Ding\|first6=Li\|last7=Phoenix\|first7=Timothy N.\|last8=Hedlund\|first8=Erin\|last9=Wei\|first9=Lei\|date=2012-08-02\|title=Novel mutations target distinct subgroups of medulloblastoma\|url=https://pubmed.ncbi.nlm.nih.gov/22722829\|journal=Nature\|volume=488\|issue=7409\|pages=43–48\|doi=10.1038/nature11213\|issn=1476-4687\|pmc=3412905\|pmid=22722829}}</ref>
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
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Jennelleh at 02:01, 28 March 2025

2025-03-28T02:01:30Z

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Jennelleh at 01:49, 28 March 2025

2025-03-28T01:49:41Z

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Jennelleh at 01:26, 28 March 2025

2025-03-28T01:26:44Z

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 |Subtype(s)
 |Medulloblastoma, WNT-activated
 |}

Jennelleh at 01:24, 28 March 2025

2025-03-28T01:24:59Z

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