HAEM5:B-lymphoblastic leukaemia/lymphoma with high hyperdiploidy: Difference between revisions
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==Gene Rearrangements== | ==Gene Rearrangements== | ||
No recurrent gene rearrangements are found. | |||
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> | 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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!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
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| | | ||<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.|| | ||
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|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4'' | |<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> 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''. | ||
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|Nonsynonymous SNV, frameshift insertion, splice site | |Nonsynonymous SNV, frameshift insertion, splice site | ||
|Histone acetyltransferase | |Histone acetyltransferase | ||
|Recurrent | |Recurrent | ||
|No | |No | ||
|No | |No | ||
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|''SETD2'' | |''SETD2'' | ||
|Frameshift insertion | |Frameshift insertion | ||
|Histone methyltransferase | |Histone methyltransferase | ||
|Rare | |Rare | ||
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
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|''FLT3, NRAS, KRAS'' and ''PTPN11''<ref name=":2" />; Activating mutations | |''FLT3, NRAS, KRAS'' and ''PTPN11''<ref name=":2">{{Cite journal|last=Paulsson|first=Kajsa|last2=Lilljebjörn|first2=Henrik|last3=Biloglav|first3=Andrea|last4=Olsson|first4=Linda|last5=Rissler|first5=Marianne|last6=Castor|first6=Anders|last7=Barbany|first7=Gisela|last8=Fogelstrand|first8=Linda|last9=Nordgren|first9=Ann|date=2015-06|title=The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25961940|journal=Nature Genetics|volume=47|issue=6|pages=672–676|doi=10.1038/ng.3301|issn=1546-1718|pmid=25961940}}</ref>; Activating mutations | ||
|Receptor tyrosine kinase (RTK)-RAS signaling | |Receptor tyrosine kinase (RTK)-RAS signaling | ||
|Increased proliferation, differentiation, and survival | |Increased proliferation, differentiation, and survival | ||