HAEM5:T-prolymphocytic leukaemia: Difference between revisions
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|TSG | |TSG | ||
|53% (COSMIC) | |53% (COSMIC) | ||
|ATM mutation/deletion | |''ATM'' mutation/deletion | ||
|None specified | |None specified | ||
|Yes | |Yes | ||
|Yes | |Yes | ||
| | |Yes | ||
|Deletions of or missense mutations at the ataxia telangiectasia mutated (''ATM'') locus at 11q23 are found in up to 80% to 90% of T-PLL cases. (T-PLL-ISG) | |Deletions of or missense mutations at the ataxia telangiectasia mutated (''ATM'') locus at 11q23 are found in up to 80% to 90% of T-PLL cases. (T-PLL-ISG) | ||
|- | |- | ||
| Line 254: | Line 254: | ||
|TSG | |TSG | ||
|72% (COSMIC) | |72% (COSMIC) | ||
|JAK/STAT pathway | |''JAK/STAT'' pathway | ||
|None specified | |None specified | ||
|Unknown | |Unknown | ||
| Line 272: | Line 272: | ||
(COSMIC) | (COSMIC) | ||
|ATM, TP53, Epigenetic modifiers <ref name=":1">{{Cite journal|last=Andersson|first=E. I.|last2=Pützer|first2=S.|last3=Yadav|first3=B.|last4=Dufva|first4=O.|last5=Khan|first5=S.|last6=He|first6=L.|last7=Sellner|first7=L.|last8=Schrader|first8=A.|last9=Crispatzu|first9=G.|date=2018-03|title=Discovery of novel drug sensitivities in T-PLL by high-throughput ex vivo drug testing and mutation profiling|url=https://pubmed.ncbi.nlm.nih.gov/28804127|journal=Leukemia|volume=32|issue=3|pages=774–787|doi=10.1038/leu.2017.252|issn=1476-5551|pmid=28804127}}</ref><ref name=":2">{{Cite journal|last=Pinter-Brown|first=Lauren C.|date=2021-12-30|title=JAK/STAT: a pathway through the maze of PTCL?|url=https://doi.org/10.1182/blood.2021014238|journal=Blood|volume=138|issue=26|pages=2747–2748|doi=10.1182/blood.2021014238|issn=0006-4971}}</ref> | |''ATM, TP53'', Epigenetic modifiers <ref name=":1">{{Cite journal|last=Andersson|first=E. I.|last2=Pützer|first2=S.|last3=Yadav|first3=B.|last4=Dufva|first4=O.|last5=Khan|first5=S.|last6=He|first6=L.|last7=Sellner|first7=L.|last8=Schrader|first8=A.|last9=Crispatzu|first9=G.|date=2018-03|title=Discovery of novel drug sensitivities in T-PLL by high-throughput ex vivo drug testing and mutation profiling|url=https://pubmed.ncbi.nlm.nih.gov/28804127|journal=Leukemia|volume=32|issue=3|pages=774–787|doi=10.1038/leu.2017.252|issn=1476-5551|pmid=28804127}}</ref><ref name=":2">{{Cite journal|last=Pinter-Brown|first=Lauren C.|date=2021-12-30|title=JAK/STAT: a pathway through the maze of PTCL?|url=https://doi.org/10.1182/blood.2021014238|journal=Blood|volume=138|issue=26|pages=2747–2748|doi=10.1182/blood.2021014238|issn=0006-4971}}</ref> | ||
|Typically, mutations within this pathway occur in a mutually exclusive manner.<ref name=":3">{{Cite journal|last=Kiel|first=Mark J.|last2=Velusamy|first2=Thirunavukkarasu|last3=Rolland|first3=Delphine|last4=Sahasrabuddhe|first4=Anagh A.|last5=Chung|first5=Fuzon|last6=Bailey|first6=Nathanael G.|last7=Schrader|first7=Alexandra|last8=Li|first8=Bo|last9=Li|first9=Jun Z.|date=2014-08-28|title=Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24825865|journal=Blood|volume=124|issue=9|pages=1460–1472|doi=10.1182/blood-2014-03-559542|issn=1528-0020|pmc=4148768|pmid=24825865}}</ref> | |Typically, mutations within this pathway occur in a mutually exclusive manner.<ref name=":3">{{Cite journal|last=Kiel|first=Mark J.|last2=Velusamy|first2=Thirunavukkarasu|last3=Rolland|first3=Delphine|last4=Sahasrabuddhe|first4=Anagh A.|last5=Chung|first5=Fuzon|last6=Bailey|first6=Nathanael G.|last7=Schrader|first7=Alexandra|last8=Li|first8=Bo|last9=Li|first9=Jun Z.|date=2014-08-28|title=Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24825865|journal=Blood|volume=124|issue=9|pages=1460–1472|doi=10.1182/blood-2014-03-559542|issn=1528-0020|pmc=4148768|pmid=24825865}}</ref> | ||
|Yes | |Yes | ||
|Yes | |Yes | ||
| | |Associated with resistance to therapy | ||
|The cumulative prevalence of these mutations in T-PLL is approximately 60%. (Dr jaffe book) | |The cumulative prevalence of these mutations in T-PLL is approximately 60%. (Dr jaffe book) | ||
|- | |- | ||
| Line 282: | Line 282: | ||
|Oncogene, TSG | |Oncogene, TSG | ||
|16% (COSMIC) | |16% (COSMIC) | ||
|JAK/STAT pathway | |JAK/STAT pathway<ref name=":1" /><ref name=":2" /> | ||
|None specified | |None specified | ||
|No | |No | ||
|Yes | |Yes | ||
|Yes?? | |||
| | | | ||
|- | |- | ||
|''BCOR'' | |''BCOR'' | ||
|TSG | |TSG | ||
|8% (COSMIC) | |8% (COSMIC) | ||
|JAK/STAT pathway | |''JAK/STAT'' pathway<ref name=":1" /><ref name=":2" /> | ||
|None specified | |None specified | ||
|No | |No | ||
|Yes | |Yes | ||
| | |Yes?? | ||
| | | | ||
|- | |- | ||
| Line 302: | Line 302: | ||
|TSG | |TSG | ||
|5% (COSMIC) | |5% (COSMIC) | ||
| | |''ATM, TP53, JAK/STA''T pathway, Epigenetic modifiers | ||
| | |None specified | ||
| | |No | ||
|Yes | |Yes | ||
| | |No | ||
|CHEK2 mutations may indicate a defective DNA damage response and aggressive disease <ref name=":3" /><ref>{{Cite journal|last=Braun|first=Till|last2=Dechow|first2=Annika|last3=Friedrich|first3=Gregor|last4=Seifert|first4=Michael|last5=Stachelscheid|first5=Johanna|last6=Herling|first6=Marco|date=2021|title=Advanced Pathogenetic Concepts in T-Cell Prolymphocytic Leukemia and Their Translational Impact|url=https://pubmed.ncbi.nlm.nih.gov/34869023|journal=Frontiers in Oncology|volume=11|pages=775363|doi=10.3389/fonc.2021.775363|issn=2234-943X|pmc=8639578|pmid=34869023}}</ref> | |''CHEK2'' mutations may indicate a defective DNA damage response and aggressive disease <ref name=":3" /><ref>{{Cite journal|last=Braun|first=Till|last2=Dechow|first2=Annika|last3=Friedrich|first3=Gregor|last4=Seifert|first4=Michael|last5=Stachelscheid|first5=Johanna|last6=Herling|first6=Marco|date=2021|title=Advanced Pathogenetic Concepts in T-Cell Prolymphocytic Leukemia and Their Translational Impact|url=https://pubmed.ncbi.nlm.nih.gov/34869023|journal=Frontiers in Oncology|volume=11|pages=775363|doi=10.3389/fonc.2021.775363|issn=2234-943X|pmc=8639578|pmid=34869023}}</ref> | ||
|- | |- | ||
|''TP53'' | |''TP53'' | ||
|TSG | |TSG | ||
|2% (COSMIC) | |2% (COSMIC) | ||
| | |''ATM, JAK/STA''T pathway, Epigenetic modifiers | ||
| | |None specified | ||
| | |No | ||
| | |Yes | ||
| | |Associated with resistance to therapy | ||
| | |Mutations in TP53 are less frequent than deletions<ref>{{Cite journal|last=Stengel|first=Anna|last2=Kern|first2=Wolfgang|last3=Zenger|first3=Melanie|last4=Perglerová|first4=Karolína|last5=Schnittger|first5=Susanne|last6=Haferlach|first6=Torsten|last7=Haferlach|first7=Claudia|date=2016-01|title=Genetic characterization of T-PLL reveals two major biologic subgroups and JAK3 mutations as prognostic marker|url=https://pubmed.ncbi.nlm.nih.gov/26493028|journal=Genes, Chromosomes & Cancer|volume=55|issue=1|pages=82–94|doi=10.1002/gcc.22313|issn=1098-2264|pmid=26493028}}</ref> | ||
|}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | |}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | ||
==Epigenomic Alterations== | ==Epigenomic Alterations== | ||