HAEM5:T-prolymphocytic leukaemia: Difference between revisions
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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 | ||
| | |Loss | ||
|17p | |17p | ||
|17p13 | |17p13 | ||
|No | |No | ||
|Yes | |Yes | ||
|Yes (resistance to therapy) | |Yes (resistance to therapy) | ||
| | |May include TP53 gene at 17p13.1. <ref name=":7" /> | ||
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|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== | ||