Compendium of Cancer Genome Aberrations

HAEM5:T-prolymphocytic leukaemia: Difference between revisions

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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
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|inv(14)<br />||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||t(14;14)(q11.2;q32.1)
|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)
|<span class="blue-text">EXAMPLE:</span> Common (CML)
|Common ~60%
|<span class="blue-text">EXAMPLE:</span> D, P, T
|<span class="blue-text">EXAMPLE:</span> D, P, T
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
|<span class="blue-text">EXAMPLE:</span>
|These genetic abnormalities serve as diagnostic markers and generally indicate an aggressive disease.  Major diagnostic criteria.<ref name=":6" />
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
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|t(X;14)
|t(14;14)
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
|juxtaposition of TCRα/δ enhancer and TCL1A
|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
|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(X;14)(q28;q11.2)
|t(14;14)(q11.2;q32.1)
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
|Recurrent ~20%
|<span class="blue-text">EXAMPLE:</span> D
|<span class="blue-text">EXAMPLE:</span> D
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''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
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|<span class="blue-text">EXAMPLE:</span> ''ALK''
|t(X;14)
|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''


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Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
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.
|<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.
|<span class="blue-text">EXAMPLE:</span> N/A
|t(X;14)(q28;q11.2)
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
|Rare ~5%
|<span class="blue-text">EXAMPLE:</span> T
|<span class="blue-text">EXAMPLE:</span> T
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Both balanced and unbalanced forms are observed by FISH (add references).
Both balanced and unbalanced forms are observed by FISH (add references).
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|<span class="blue-text">EXAMPLE:</span> ''ABL1''
|<span class="blue-text">EXAMPLE:</span> N/A
|<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways.
|<span class="blue-text">EXAMPLE:</span> N/A
|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
|<span class="blue-text">EXAMPLE:</span> D, P, T
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|No
|No
|No
|No
|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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|t(X;14)(q28;q11.2)
|t(X;14)(q28;q11.2)
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