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Line 137: |
| |5 | | |5 |
| |Abnormality | | |Abnormality |
− | |5p | + | |5p, 5q<ref>{{Cite journal|last=Tirado|first=Carlos A.|last2=Starshak|first2=Phillip|last3=Delgado|first3=Paul|last4=Rao|first4=Nagesh|date=2012-08-20|title="T-cell prolymphocytic leukemia (T-PLL), a heterogeneous disease exemplified by two cases and the important role of cytogenetics: a multidisciplinary approach"|url=https://pubmed.ncbi.nlm.nih.gov/23211026|journal=Experimental Hematology & Oncology|volume=1|issue=1|pages=21|doi=10.1186/2162-3619-1-21|issn=2162-3619|pmc=3514161|pmid=23211026}}</ref> |
| | | | | |
| |Yes | | |Yes |
− | | | + | |Yes |
− | | | + | |No |
| |Minor diagnostic criteria | | |Minor diagnostic criteria |
| |- | | |- |
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Line 239: |
| |Yes | | |Yes |
| |Yes | | |Yes |
− | |Yes | + | |Yes (PARP inhibitors, NCT03263637) |
− | |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 ''ATM'' locus are found in up to 80% to 90% of T-PLL cases. (T-PLL-ISG). |
| |- | | |- |
| |''FBXW10'' | | |''FBXW10'' |
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| |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) |
| |- | | |- |
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| |No | | |No |
| |Yes | | |Yes |
− | |Yes?? | + | |See note |
− | | | + | |EZH2 inhibitors like tazemetostat have shown efficacy in other hematologic malignancies, providing a rationale for their potential use in T-PLL |
| |- | | |- |
| |''BCOR'' | | |''BCOR'' |
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| |Associated with resistance to therapy | | |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> | | |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> |
| + | |- |
| + | |SAMHD1 |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| + | | |
| |}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== |