HAEM5:Myelodysplastic neoplasm with biallelic TP53 inactivation - Revision history

Eric.McGinnis: Updated gene mutations section to WHO5 format table (previously missed)

2025-12-09T21:09:32Z

Updated gene mutations section to WHO5 format table (previously missed)

Jennelleh at 15:02, 9 December 2025

2025-12-09T15:02:54Z

← Older revision		Revision as of 10:02, 9 December 2025
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	~~<br />~~
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==
	MDS bi-''TP53'' is strongly associated with karyotype complexity, with a higher average number of cytogenetic abnormalities (rearrangements, copy gains, and copy losses) relative to MDS with unmutated ''TP53'' or with monoallelic mutation, with particular predilection for recurrent copy number losses.<ref name=":1">{{Cite journal\|last=Haase\|first=Detlef\|last2=Stevenson\|first2=Kristen E.\|last3=Neuberg\|first3=Donna\|last4=Maciejewski\|first4=Jaroslaw P.\|last5=Nazha\|first5=Aziz\|last6=Sekeres\|first6=Mikkael A.\|last7=Ebert\|first7=Benjamin L.\|last8=Garcia-Manero\|first8=Guillermo\|last9=Haferlach\|first9=Claudia\|date=2019-07\|title=TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups\|url=https://pubmed.ncbi.nlm.nih.gov/30635634\|journal=Leukemia\|volume=33\|issue=7\|pages=1747–1758\|doi=10.1038/s41375-018-0351-2\|issn=1476-5551\|pmc=6609480\|pmid=30635634}}</ref><ref name=":0">{{Cite journal\|last=Bernard\|first=Elsa\|last2=Nannya\|first2=Yasuhito\|last3=Hasserjian\|first3=Robert P.\|last4=Devlin\|first4=Sean M.\|last5=Tuechler\|first5=Heinz\|last6=Medina-Martinez\|first6=Juan S.\|last7=Yoshizato\|first7=Tetsuichi\|last8=Shiozawa\|first8=Yusuke\|last9=Saiki\|first9=Ryunosuke\|date=2020-10\|title=Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes\|url=https://pubmed.ncbi.nlm.nih.gov/32747829\|journal=Nature Medicine\|volume=26\|issue=10\|pages=1549–1556\|doi=10.1038/s41591-020-1008-z\|issn=1546-170X\|pmc=8381722\|pmid=32747829}}</ref> Recurrent chromosomal gains, losses, and regions of LOH described which have been observed at higher frequency in MDS-bi''TP53'' include<ref name=":0" /><ref name=":2">Germing U., Claudi M., Zerbini N., et al. Myelodysplastic neoplasm with biallelic TP53 inactivation. In: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours [Internet; beta version ahead of print]. Lyon (France): International Agency for Research on Cancer; 2022 [cited YYYY Mmm D]. (WHO classification of tumours series, 5th ed.; vol. 11). Available from: <nowiki>https://tumourclassification.iarc.who.int/chapters/63</nowiki>.</ref><ref name=":1" />		MDS bi-''TP53'' is strongly associated with karyotype complexity, with a higher average number of cytogenetic abnormalities (rearrangements, copy gains, and copy losses) relative to MDS with unmutated ''TP53'' or with monoallelic mutation, with particular predilection for recurrent copy number losses.<ref name=":1">{{Cite journal\|last=Haase\|first=Detlef\|last2=Stevenson\|first2=Kristen E.\|last3=Neuberg\|first3=Donna\|last4=Maciejewski\|first4=Jaroslaw P.\|last5=Nazha\|first5=Aziz\|last6=Sekeres\|first6=Mikkael A.\|last7=Ebert\|first7=Benjamin L.\|last8=Garcia-Manero\|first8=Guillermo\|last9=Haferlach\|first9=Claudia\|date=2019-07\|title=TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups\|url=https://pubmed.ncbi.nlm.nih.gov/30635634\|journal=Leukemia\|volume=33\|issue=7\|pages=1747–1758\|doi=10.1038/s41375-018-0351-2\|issn=1476-5551\|pmc=6609480\|pmid=30635634}}</ref><ref name=":0">{{Cite journal\|last=Bernard\|first=Elsa\|last2=Nannya\|first2=Yasuhito\|last3=Hasserjian\|first3=Robert P.\|last4=Devlin\|first4=Sean M.\|last5=Tuechler\|first5=Heinz\|last6=Medina-Martinez\|first6=Juan S.\|last7=Yoshizato\|first7=Tetsuichi\|last8=Shiozawa\|first8=Yusuke\|last9=Saiki\|first9=Ryunosuke\|date=2020-10\|title=Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes\|url=https://pubmed.ncbi.nlm.nih.gov/32747829\|journal=Nature Medicine\|volume=26\|issue=10\|pages=1549–1556\|doi=10.1038/s41591-020-1008-z\|issn=1546-170X\|pmc=8381722\|pmid=32747829}}</ref> Recurrent chromosomal gains, losses, and regions of LOH described which have been observed at higher frequency in MDS-bi''TP53'' include<ref name=":0" /><ref name=":2">Germing U., Claudi M., Zerbini N., et al. Myelodysplastic neoplasm with biallelic TP53 inactivation. In: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours [Internet; beta version ahead of print]. Lyon (France): International Agency for Research on Cancer; 2022 [cited YYYY Mmm D]. (WHO classification of tumours series, 5th ed.; vol. 11). Available from: <nowiki>https://tumourclassification.iarc.who.int/chapters/63</nowiki>.</ref><ref name=":1" />

Jennelleh at 15:02, 9 December 2025

2025-12-09T15:02:23Z

← Older revision		Revision as of 10:02, 9 December 2025
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	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==
	MDS bi-''TP53'' is strongly associated with karyotype complexity, with a higher average number of cytogenetic abnormalities (rearrangements, copy gains, and copy losses) relative to MDS with unmutated ''TP53'' or with monoallelic mutation, with particular predilection for recurrent copy number losses.<ref name=":1">{{Cite journal\|last=Haase\|first=Detlef\|last2=Stevenson\|first2=Kristen E.\|last3=Neuberg\|first3=Donna\|last4=Maciejewski\|first4=Jaroslaw P.\|last5=Nazha\|first5=Aziz\|last6=Sekeres\|first6=Mikkael A.\|last7=Ebert\|first7=Benjamin L.\|last8=Garcia-Manero\|first8=Guillermo\|last9=Haferlach\|first9=Claudia\|date=2019-07\|title=TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups\|url=https://pubmed.ncbi.nlm.nih.gov/30635634\|journal=Leukemia\|volume=33\|issue=7\|pages=1747–1758\|doi=10.1038/s41375-018-0351-2\|issn=1476-5551\|pmc=6609480\|pmid=30635634}}</ref><ref name=":0">{{Cite journal\|last=Bernard\|first=Elsa\|last2=Nannya\|first2=Yasuhito\|last3=Hasserjian\|first3=Robert P.\|last4=Devlin\|first4=Sean M.\|last5=Tuechler\|first5=Heinz\|last6=Medina-Martinez\|first6=Juan S.\|last7=Yoshizato\|first7=Tetsuichi\|last8=Shiozawa\|first8=Yusuke\|last9=Saiki\|first9=Ryunosuke\|date=2020-10\|title=Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes\|url=https://pubmed.ncbi.nlm.nih.gov/32747829\|journal=Nature Medicine\|volume=26\|issue=10\|pages=1549–1556\|doi=10.1038/s41591-020-1008-z\|issn=1546-170X\|pmc=8381722\|pmid=32747829}}</ref> Recurrent chromosomal gains, losses, and regions of LOH described which have been observed at higher frequency in MDS-bi''TP53'' include<ref name=":0" /><ref name=":2">Germing U., Claudi M., Zerbini N., et al. Myelodysplastic neoplasm with biallelic TP53 inactivation. In: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours [Internet; beta version ahead of print]. Lyon (France): International Agency for Research on Cancer; 2022 [cited YYYY Mmm D]. (WHO classification of tumours series, 5th ed.; vol. 11). Available from: <nowiki>https://tumourclassification.iarc.who.int/chapters/63</nowiki>.</ref><ref name=":1" />		MDS bi-''TP53'' is strongly associated with karyotype complexity, with a higher average number of cytogenetic abnormalities (rearrangements, copy gains, and copy losses) relative to MDS with unmutated ''TP53'' or with monoallelic mutation, with particular predilection for recurrent copy number losses.<ref name=":1">{{Cite journal\|last=Haase\|first=Detlef\|last2=Stevenson\|first2=Kristen E.\|last3=Neuberg\|first3=Donna\|last4=Maciejewski\|first4=Jaroslaw P.\|last5=Nazha\|first5=Aziz\|last6=Sekeres\|first6=Mikkael A.\|last7=Ebert\|first7=Benjamin L.\|last8=Garcia-Manero\|first8=Guillermo\|last9=Haferlach\|first9=Claudia\|date=2019-07\|title=TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups\|url=https://pubmed.ncbi.nlm.nih.gov/30635634\|journal=Leukemia\|volume=33\|issue=7\|pages=1747–1758\|doi=10.1038/s41375-018-0351-2\|issn=1476-5551\|pmc=6609480\|pmid=30635634}}</ref><ref name=":0">{{Cite journal\|last=Bernard\|first=Elsa\|last2=Nannya\|first2=Yasuhito\|last3=Hasserjian\|first3=Robert P.\|last4=Devlin\|first4=Sean M.\|last5=Tuechler\|first5=Heinz\|last6=Medina-Martinez\|first6=Juan S.\|last7=Yoshizato\|first7=Tetsuichi\|last8=Shiozawa\|first8=Yusuke\|last9=Saiki\|first9=Ryunosuke\|date=2020-10\|title=Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes\|url=https://pubmed.ncbi.nlm.nih.gov/32747829\|journal=Nature Medicine\|volume=26\|issue=10\|pages=1549–1556\|doi=10.1038/s41591-020-1008-z\|issn=1546-170X\|pmc=8381722\|pmid=32747829}}</ref> Recurrent chromosomal gains, losses, and regions of LOH described which have been observed at higher frequency in MDS-bi''TP53'' include<ref name=":0" /><ref name=":2">Germing U., Claudi M., Zerbini N., et al. Myelodysplastic neoplasm with biallelic TP53 inactivation. In: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours [Internet; beta version ahead of print]. Lyon (France): International Agency for Research on Cancer; 2022 [cited YYYY Mmm D]. (WHO classification of tumours series, 5th ed.; vol. 11). Available from: <nowiki>https://tumourclassification.iarc.who.int/chapters/63</nowiki>.</ref><ref name=":1" />



	Copy-neutral LOH involving chromosome 17p and the ''TP53'' locus is a component of the diagnostic definition of MDS-bi''TP53'' and has been reported to occur in 21% of patients with this disease, usually in the setting of a single ''TP53'' mutation (i.e. not typically in association with more than one distinct ''TP53'' mutation).<ref name=":0" /> It is not currently known whether other instances of recurrent copy-neutral LOH in myeloid neoplasms are observed at significantly higher frequency in MDS-bi''TP53''.		Copy-neutral LOH involving chromosome 17p and the ''TP53'' locus is a component of the diagnostic definition of MDS-bi''TP53'' and has been reported to occur in 21% of patients with this disease, usually in the setting of a single ''TP53'' mutation (i.e. not typically in association with more than one distinct ''TP53'' mutation).<ref name=":0" /> It is not currently known whether other instances of recurrent copy-neutral LOH in myeloid neoplasms are observed at significantly higher frequency in MDS-bi''TP53''.

Jennelleh at 15:01, 9 December 2025

2025-12-09T15:01:45Z

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	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
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	*A complex karyotype (at least three distinct abnormalities excluding loss of Y) and/or 17p deletion detected by analysis of banded chromosomes, in the context of one detected ''TP53'' variant, can be considered evidence of biallelic inactivation		*A complex karyotype (at least three distinct abnormalities excluding loss of Y) and/or 17p deletion detected by analysis of banded chromosomes, in the context of one detected ''TP53'' variant, can be considered evidence of biallelic inactivation
	*If myeloid blasts account for 10-19% of cellularity in blood or bone marrow then a diagnosis of MDS/AML with mutated ''TP53'' is applied (for which only a single ''TP53'' mutation with VAF ≥10% is required for diagnosis)		*If myeloid blasts account for 10-19% of cellularity in blood or bone marrow then a diagnosis of MDS/AML with mutated ''TP53'' is applied (for which only a single ''TP53'' mutation with VAF ≥10% is required for diagnosis)
			==Links==


	Links

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	==References==		==References==

Eric.McGinnis: Updated to reflect new somatic format.

2025-12-08T22:53:26Z

Updated to reflect new somatic format.

Show changes

Eric.McGinnis: /* Links */

2025-11-06T22:01:16Z

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← Older revision		Revision as of 17:01, 6 November 2025
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Eric.McGinnis: /* Links */

2025-11-06T21:59:04Z

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Bailey.Glen at 17:22, 3 July 2025

2025-07-03T17:22:27Z

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 |Myelodysplastic neoplasm with biallelic TP53 inactivation
 |}
 ==Related Terminology==

Bailey.Glen at 21:41, 25 May 2025

2025-05-25T21:41:56Z

← Older revision		Revision as of 16:41, 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>
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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''

Bailey.Glen at 20:18, 25 May 2025

2025-05-25T20:18:13Z

← Older revision		Revision as of 15:18, 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
	\|		\|Myelodysplastic neoplasm with muti-hit TP53 inactivation
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|N/A
	\|}		\|}