Compendium of Cancer Genome Aberrations

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

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==Chromosomal Rearrangements (Gene Fusions)==
==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>
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|WHO Essential Criteria (Genetics)*
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|WHO Desirable Criteria (Genetics)*
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|Other Classification
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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>].
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
{| class="wikitable"
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|Acceptable
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|Not Recommended
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==Gene Rearrangements==
There are no known recurrent rearrangements resulting in gene fusions associated with MDS-bi''TP53''.
There are no known recurrent rearrangements resulting in gene fusions associated with MDS-bi''TP53''.
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<nowiki>**</nowiki>MDS-bi''TP53'' diagnosis and therefore prognostic stratification is dependent on loss or LOH involving 17p unless multiple mutations are present  
<nowiki>**</nowiki>MDS-bi''TP53'' diagnosis and therefore prognostic stratification is dependent on loss or LOH involving 17p unless multiple mutations are present  


==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==
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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==Notes==
==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.
 
Prior Author(s): 
 
       
<nowiki>*</nowiki>''Citation of this Page'': “Myelodysplastic neoplasm with biallelic TP53 inactivation”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myelodysplastic_neoplasm_with_biallelic_TP53_inactivation</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Myelodysplastic neoplasm with biallelic TP53 inactivation”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myelodysplastic_neoplasm_with_biallelic_TP53_inactivation</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]]
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]]
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