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| ==Gene Rearrangements== | | ==Gene Rearrangements== |
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| TCR Fulminant EBV+ T-cell lymphoproliferative disorder following acute/chronic EBV infection: a distinct clinicopathologic syndrome - ScienceDirect
| | Monoclonal T-cell receptor gene rearrangements in most cases.<ref name=":1" /> |
| Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: 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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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
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| !Clinical Relevance Details/Other Notes | | !Clinical Relevance Details/Other Notes |
| |- | | |- |
| |<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) | | |T-cell Receptor (TCR) Gene Rearrangements |
| |<span class="blue-text">EXAMPLE:</span> Common (CML) | | |N/A |
| |<span class="blue-text">EXAMPLE:</span> D, P, T | | |V(D)J rearrangement of T-cell receptor loci<ref>{{Cite journal|last=van Dongen|first=J. J. M.|last2=Langerak|first2=A. W.|last3=Brüggemann|first3=M.|last4=Evans|first4=P. a. S.|last5=Hummel|first5=M.|last6=Lavender|first6=F. L.|last7=Delabesse|first7=E.|last8=Davi|first8=F.|last9=Schuuring|first9=E.|date=2003-12|title=Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936|url=https://pubmed.ncbi.nlm.nih.gov/14671650|journal=Leukemia|volume=17|issue=12|pages=2257–2317|doi=10.1038/sj.leu.2403202|issn=0887-6924|pmid=14671650}}</ref> |
| |<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN) | | |N/A |
| |<span class="blue-text">EXAMPLE:</span> | | |Common<ref name=":1" /> |
| 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 |
| |- | | |Yes |
| |<span class="blue-text">EXAMPLE:</span> ''CIC'' | | |The WHO 5th edition notes that diagnosis of SEBVTCL of childhood "may be supported by clonal TR gene rearrangements," and clonal TR gene rearrangements are included as desirable diagnostic criteria.<ref>The WHO Classification of Tumours Editorial Board, ed. ''Haematolymphoid Tumours: Who Classification of Tumours''. 5th ed. International Agency for Research on Cancer; 2024.</ref> |
| |<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> | |
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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'' | |
| |<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK'' | |
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| Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
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| |<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.
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| |<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> | |
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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> ''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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| *Monoclonal T-cell receptor gene rearrangements
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| *Aneuploidies and chromosomal gains/losses have been observed but no observable patterns to-date; Associated with worse prognosis | | *Aneuploidies and chromosomal gains/losses have been observed but no observable patterns to-date; Associated with worse prognosis |
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