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| |Positive (universal)||CD34 | | |Positive (universal)||CD34 |
| |- | | |- |
− | |Positive (universal)||STAT6 | + | |Positive (universal)||STAT6 (nuclear) |
| |- | | |- |
| |Negative (universal)|| | | |Negative (universal)|| |
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| !Notes | | !Notes |
| |- | | |- |
− | |<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC) | + | |inv(12)(q13q13)||3'STAT6 / 5'NAB2||NA||55-100% |
− | <span class="blue-text">EXAMPLE:</span> 30% (add reference)
| + | |Yes |
− | |<span class="blue-text">EXAMPLE:</span> Yes | + | |Unknown |
− | |<span class="blue-text">EXAMPLE:</span> No | + | |No |
− | |<span class="blue-text">EXAMPLE:</span> Yes | + | |Many different breakpoints in the exons and introns are associated with this fusion. Ex: ''NAB2''ex4-''STAT6''ex2; ''NAB2''ex6-''STAT6''ex16/17 |
− | |<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).
| |
| |} | | |} |
| ==Individual Region Genomic Gain / Loss / LOH== | | ==Individual Region Genomic Gain / Loss / LOH== |
− | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>
| + | |
| + | |
| + | Not Applicable |
| {| class="wikitable sortable" | | {| class="wikitable sortable" |
| |- | | |- |
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| |} | | |} |
| ==Characteristic Chromosomal Patterns== | | ==Characteristic Chromosomal Patterns== |
− | Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis. Do not delete table.'')</span>
| + | |
| + | |
| + | Not Applicable |
| {| class="wikitable sortable" | | {| class="wikitable sortable" |
| |- | | |- |
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| !Notes | | !Notes |
| |- | | |- |
− | |<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations | + | | |
− | <span class="blue-text">EXAMPLE:</span>
| |
− | | |
− | ''EGFR''; Exon 20 mutations
| |
− | | |
− | <span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
| |
| |<span class="blue-text">EXAMPLE:</span> TSG | | |<span class="blue-text">EXAMPLE:</span> TSG |
| |<span class="blue-text">EXAMPLE:</span> 20% (COSMIC) | | |<span class="blue-text">EXAMPLE:</span> 20% (COSMIC) |
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| |}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | | |}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. |
| ==Epigenomic Alterations== | | ==Epigenomic Alterations== |
− | Put your text here
| + | Not Applicable |
| ==Genes and Main Pathways Involved== | | ==Genes and Main Pathways Involved== |
| Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span> | | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span> |
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| !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome |
| |- | | |- |
− | |<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations | + | |NAB2::STAT6; Activating mutation |
− | |<span class="blue-text">EXAMPLE:</span> MAPK signaling | + | |EGR Pathway |
− | |<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation | + | |Increased activation of EGR1 |
| |- | | |- |
| |<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations | | |<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations |