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| |Yes | | |Yes |
| |Yes | | |Yes |
− | |Yes | + | |Yes (although not established as a therapeutic marker, it associated with poor response to conventional chemotherapy) |
| |These genetic abnormalities serve as diagnostic markers and generally indicate an aggressive disease. This is due to their role in overexpressing oncogenes like ''TCL1A''. '''Major diagnostic criteria'''.<ref name=":6" /> | | |These genetic abnormalities serve as diagnostic markers and generally indicate an aggressive disease. This is due to their role in overexpressing oncogenes like ''TCL1A''. '''Major diagnostic criteria'''.<ref name=":6" /> |
| |- | | |- |
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| |Yes | | |Yes |
| |No | | |No |
− | |Yes | + | |Yes (although not established as a therapeutic marker, it associated with poor response to conventional chemotherapy) |
| |'''Major diagnostic criteria'''.<ref name=":6" /> | | |'''Major diagnostic criteria'''.<ref name=":6" /> |
| |} | | |} |
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| |- | | |- |
| |17 | | |17 |
− | |Abnormality | + | |Loss |
− | |17p, 17q | + | |17p |
| |17p13 | | |17p13 |
| |No | | |No |
| |Yes | | |Yes |
| |Yes (resistance to therapy) | | |Yes (resistance to therapy) |
− | |The TP53 gene is deleted (at 17p13.1), with overexpression of p53, in some cases. <ref name=":7" /> | + | |May include TP53 gene at 17p13.1. <ref name=":7" /> |
| |- | | |- |
| |22 | | |22 |
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| **Involvement of specific sites (spleen, effusions) | | **Involvement of specific sites (spleen, effusions) |
| | | |
− | == Characteristic Chromosomal Patterns == | + | ==Characteristic Chromosomal Patterns== |
| [[File:Inv(14)(q11.2q32).png|thumb|Inv(14)(q11.2q32)]] | | [[File:Inv(14)(q11.2q32).png|thumb|Inv(14)(q11.2q32)]] |
| The most common chromosomal abnormality in T-PLL involves an inversion of chromosome 14, with breakpoints at q11.2 and q32.1, observed in about 60-80% of patients and described as inv(14). Additionally, in 10-20% of cases, there is a translocation t(14;14)(q11.2;q32.1).<ref name=":5" /> <ref name=":7" /> | | The most common chromosomal abnormality in T-PLL involves an inversion of chromosome 14, with breakpoints at q11.2 and q32.1, observed in about 60-80% of patients and described as inv(14). Additionally, in 10-20% of cases, there is a translocation t(14;14)(q11.2;q32.1).<ref name=":5" /> <ref name=":7" /> |
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| |Yes | | |Yes |
| |Associated with resistance to therapy | | |Associated with resistance to therapy |
− | |Mutations in TP53 are less frequent than deletions.<ref name=":9" /> | + | |Mutations in TP53 are less frequent than deletions.<ref name=":9" />May show overexpression of p53 in some cases.<ref name=":7" /> |
| |}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== |