HAEM5:Myelodysplastic neoplasm with biallelic TP53 inactivation: Difference between revisions
| [checked revision] | [checked revision] |
No edit summary |
No edit summary |
||
| Line 55: | Line 55: | ||
|N/A | |N/A | ||
|} | |} | ||
==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" /> | ||