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| !Clinical Relevance Details/Other Notes | | !Clinical Relevance Details/Other Notes |
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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) | | |''BRAF'' |
| |<span class="blue-text">EXAMPLE:</span> Common (CML) | | |''KIAA1549::BRAF'' |
| |<span class="blue-text">EXAMPLE:</span> D, P, T | | |Tandem duplication at chr7q34 - duplication and insertion of ~2Mb fragment resulting in fusion of 5’ of ''KIAA1549'' with 3’ of ''BRAF'' |
| |<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN) | | <span lang="EN-US">BRAF</span>||t(7;7)(q34;q34) |
| |<span class="blue-text">EXAMPLE:</span> | | |Common (72%; WHO) |
| 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).
| | |D, T |
| | |Yes (WHO) |
| | |Case report evidence of efficacy of BRAF inhibitors in DLGNT case harboring ''KIAA1549::BRAF'' fusion (PMCID: PMC7715974) |
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| |<span class="blue-text">EXAMPLE:</span> ''CIC'' | | |''NTRK1/2/3'' |
| |<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4'' | | |Fusion partner not specified (PMID: 29766299) <span lang="EN-US">BRAF</span> |
| |<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''. | | |Downstream activation of MAPK/ERK signalling pathway in CNS tumors |
| |<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13) | | |Not specified |
| |<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma) | | |Rare |
| |<span class="blue-text">EXAMPLE:</span> D | | |D,T |
| | | | |Yes (WHO) |
| |<span class="blue-text">EXAMPLE:</span> | | |3 cases with ''NTRK1/2/3'' fusions (PMID: 29766299) |
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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). | |
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| |<span class="blue-text">EXAMPLE:</span> ''ALK'' | | |''RAF1''<span lang="EN-US">BRAF</span> |
| |<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
| | |''TRIM33:RAF1'' |
| | | <br /> |
| | | |Downstream activation of MAPK/ERK signalling pathway in CNS tumors |
| Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
| | |t(1;3)(p13;p25) |
| |<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.
| | |Rare |
| |<span class="blue-text">EXAMPLE:</span> N/A | | |D |
| |<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma) | | |Yes (WHO) |
| |<span class="blue-text">EXAMPLE:</span> T | | |1 case with ''TRIM33::RAF1'' fusion (PMID: 29766299) |
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| |<span class="blue-text">EXAMPLE:</span>
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| Both balanced and unbalanced forms are observed by FISH (add references).
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| |contain exon 19 due to breakpoints in intron 18. | | | colspan="8" | |
| |<span class="blue-text">EXAMPLE:</span> N/A
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| |<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
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| |<span class="blue-text">EXAMPLE:</span> T
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| |<span class="blue-text">EXAMPLE:</span>
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| Both balanced and unbalanced forms are observed by FISH (add references).
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| |<span class="blue-text">EXAMPLE:</span> ''EGFRvIII''
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| |<span class="blue-text">EXAMPLE:</span> N/A
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| |<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.
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| |<span class="blue-text">EXAMPLE:</span> N/A
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| |<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
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| |<span class="blue-text">EXAMPLE:</span> D, P, T
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