HAEM5:T-prolymphocytic leukaemia: Difference between revisions
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==Characteristic Chromosomal or Other Global Mutational Patterns== | ==Characteristic Chromosomal or Other Global Mutational Patterns== | ||
==Characteristic Chromosomal or Other Global Mutational Patterns== | |||
Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span> | |||
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!Chromosomal Pattern | |||
!Molecular Pathogenesis | |||
!'''Prevalence -''' | |||
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)''' | |||
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T''' | |||
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)''' | |||
!'''Clinical Relevance Details/Other Notes''' | |||
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|<span class="blue-text">EXAMPLE:</span> | |||
Co-deletion of 1p and 18q | |||
|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | |||
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma) | |||
|<span class="blue-text">EXAMPLE:</span> D, P | |||
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|<span class="blue-text">EXAMPLE:</span> | |||
Microsatellite instability - hypermutated | |||
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|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma) | |||
|<span class="blue-text">EXAMPLE:</span> P, T | |||
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[[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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|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) | |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) | ||
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==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
Although gene mutations beyond ''TCL1'' family alterations are not yet recognized as diagnostic criteria and remain under investigation for T-PLL, the mutational landscape of T-PLL provides valuable insights. These discoveries open up potential avenues for novel targeted therapies in treating this aggressive form of leukemia. | Although gene mutations beyond ''TCL1'' family alterations are not yet recognized as diagnostic criteria and remain under investigation for T-PLL, the mutational landscape of T-PLL provides valuable insights. These discoveries open up potential avenues for novel targeted therapies in treating this aggressive form of leukemia. | ||