Compendium of Cancer Genome Aberrations

HAEM5:Myelodysplastic neoplasm with biallelic TP53 inactivation: Difference between revisions

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==Characteristic Chromosomal or Other Global Mutational Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
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!Chromosomal Pattern
!Molecular Pathogenesis
!'''Prevalence -'''
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!'''Clinical Relevance Details/Other Notes'''
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|<span class="blue-text">EXAMPLE:</span>
Co-deletion of 1p and 18q
|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
|<span class="blue-text">EXAMPLE:</span> D, P
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|<span class="blue-text">EXAMPLE:</span>
Microsatellite instability - hypermutated
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|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
|<span class="blue-text">EXAMPLE:</span> P, T
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MDS-bi''TP53'' is strongly associated with complex (and monosomal) karyotypes; patients with biallelic inactivation of ''TP53'' showed significantly higher numbers of distinct cytogenetic abnormalities (median six excluding chromosome 17) relative to patients with monoallelic inactivation (median one), and a large majority of these tend to be accounted for by abnormalities associated with genomic loss (deletion/monosomy), with a median of four such abnormalities in MDS-bi''TP53'', which are particularly enriched for deletions involving chromosome 5q (identified in 85% of patients).<ref name=":0" /><ref name=":2" /><ref name=":1" /> Abnormalities involving chromosome 17p resulting in ''TP53'' loss are, by virtue of diagnostic criteria, present in approximately one third of MDS bi-''TP53'', in which they may result from simple deletion or unbalanced rearrangement, and which may in cases be submicroscopic/cryptic to analysis of banded chromosomes.<ref name=":0" />
MDS-bi''TP53'' is strongly associated with complex (and monosomal) karyotypes; patients with biallelic inactivation of ''TP53'' showed significantly higher numbers of distinct cytogenetic abnormalities (median six excluding chromosome 17) relative to patients with monoallelic inactivation (median one), and a large majority of these tend to be accounted for by abnormalities associated with genomic loss (deletion/monosomy), with a median of four such abnormalities in MDS-bi''TP53'', which are particularly enriched for deletions involving chromosome 5q (identified in 85% of patients).<ref name=":0" /><ref name=":2" /><ref name=":1" /> Abnormalities involving chromosome 17p resulting in ''TP53'' loss are, by virtue of diagnostic criteria, present in approximately one third of MDS bi-''TP53'', in which they may result from simple deletion or unbalanced rearrangement, and which may in cases be submicroscopic/cryptic to analysis of banded chromosomes.<ref name=":0" />
[[File:Complex karyotype with loss of 17p in MDS with biTP53.tif|thumb|1300x1300px|MDS-bi''TP53'' is strongly associated with complex and monosomal karyotypes. Left: Cytogenetic analysis of bone marrow cells in MDS showing a complex karyotype with deletion of 17p and characteristic recurrent abnormalities, including del(5q), del(7q), del(20q), and loss of chromosome 18. Center: Interphase FISH showing deletion of one ''TP53'' locus resulting from the del(17p). Right: Loss of 17p material resulting in deletion of ''TP53'' often results from unbalanced rearrangements involving 17p (top) or deletion of 17p (bottom) in the context of a complex karyotype.
[[File:Complex karyotype with loss of 17p in MDS with biTP53.tif|thumb|1300x1300px|MDS-bi''TP53'' is strongly associated with complex and monosomal karyotypes. Left: Cytogenetic analysis of bone marrow cells in MDS showing a complex karyotype with deletion of 17p and characteristic recurrent abnormalities, including del(5q), del(7q), del(20q), and loss of chromosome 18. Center: Interphase FISH showing deletion of one ''TP53'' locus resulting from the del(17p). Right: Loss of 17p material resulting in deletion of ''TP53'' often results from unbalanced rearrangements involving 17p (top) or deletion of 17p (bottom) in the context of a complex karyotype.
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