Compendium of Cancer Genome Aberrations

HAEM5:T-prolymphocytic leukaemia: Difference between revisions

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!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
!Driver Gene!!Fusion(s) and Common Partner Genes!!''Molecular Pathogenesis''!!Typical Chromosomal Alteration(s)
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
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|inv(14)<br />||TCRα/δ and TCL1A||Pericentric inversion within chromosome 14, leading to '''j'''uxtaposition of the TCRα/δ enhancer to the TCL1A locus and aberrant overexpression of ''TCL1A''||inv(14)(q11.2q32.1)
|inv(14)<br />||TCRα/δ and TCL1A||Pericentric inversion within chromosome 14, leading to '''j'''uxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus and aberrant overexpression of ''TCL1A''||inv(14)(q11.2q32.1)
|Common ~60%
|Common ~60%
|<span class="blue-text">EXAMPLE:</span> D, P, T
|<span class="blue-text">EXAMPLE:</span> D, P, T
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|t(14;14)
|t(14;14)
|juxtaposition of TCRα/δ enhancer and TCL1A
|TCRα/δ and TCL1A
|Reciprocal translocation between the ''two homologous chromosome 14s, leading to juxtaposition of the TCRα/δ enhancer to the TCL1A locus  and aberrant overexpression of TCL1A''
|''Reciprocal translocation between the two'' homologous chromosome 14s, leading to juxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus  and aberrant overexpression of ''TCL1A''
|t(14;14)(q11.2;q32.1)
|t(14;14)(q11.2;q32.1)
|Recurrent ~20%
|Recurrent ~20%
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|t(X;14)
|t(X;14)
|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
|''TCRα/δ and MTCP1''
 
|Transcriptional activation of ''MTCP1'' via juxtaposition to ''TCRα/δ'' enhancer elements, leading to ''AKT'' pathway activation
 
Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
|<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18.
|t(X;14)(q28;q11.2)
|t(X;14)(q28;q11.2)
|Rare ~5%
|Rare ~5%
|<span class="blue-text">EXAMPLE:</span> T
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|<span class="blue-text">EXAMPLE:</span>
|
 
|Major diagnostic criteria.<ref name=":6" />
Both balanced and unbalanced forms are observed by FISH (add references).
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