Line 244: |
Line 244: |
| |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 |
− | |Yes (resistance to therapy) | + | |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?? |
| | | | | |
− | |<ref name=":1" /><ref name=":2" />
| |
| |- | | |- |
| |''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 |
− | |Rare | + | |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== |