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HAEM5:NK-large granular lymphocytic leukaemia (view source)
Revision as of 19:22, 13 February 2025
, 13 February→Gene Rearrangements
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−|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<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.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
−|<span class="blue-text">EXAMPLE:</span> Common (CML)
−|<span class="blue-text">EXAMPLE:</span> D, P, T
−|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
−|<span class="blue-text">EXAMPLE:</span>
−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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−|<span class="blue-text">EXAMPLE:</span> ''CIC''
−|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
−|<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''.
−|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
−|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
−|<span class="blue-text">EXAMPLE:</span> D
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−|<span class="blue-text">EXAMPLE:</span>
−''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''
−|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
−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> N/A
−|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
−|<span class="blue-text">EXAMPLE:</span> T
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−|<span class="blue-text">EXAMPLE:</span>
−Both balanced and unbalanced forms are observed by FISH (add references).
−|-
−|<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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{{Under Construction}}
{{Under Construction}}
−<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Chronic Lymphoproliferative Disorder of NK Cells]].
+<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Chronic Lymphoproliferative Disorder of NK Cells]].
}}</blockquote>
}}</blockquote>
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!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
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