HAEM5:In situ mantle cell neoplasm: Difference between revisions
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{{DISPLAYTITLE:In situ mantle cell neoplasm}} | {{DISPLAYTITLE:In situ mantle cell neoplasm}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | ||
{{Under Construction}} | {{Under Construction}} | ||
<blockquote class='blockedit'>{{Box-round|title= | <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:In Situ Mantle Cell Neoplasia]]. | ||
}}</blockquote> | }}</blockquote> | ||
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span> | <span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column to a table, click within the table and select the > symbol that appears to be given options. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span> | ||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
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!Notes | !Notes | ||
|- | |- | ||
|EXAMPLE | |<span class="blue-text">EXAMPLE:</span> | ||
7 | 7 | ||
|EXAMPLE Loss | |<span class="blue-text">EXAMPLE:</span> Loss | ||
|EXAMPLE | |<span class="blue-text">EXAMPLE:</span> | ||
chr7:1- 159,335,973 [hg38] | chr7:1- 159,335,973 [hg38] | ||
|EXAMPLE | |<span class="blue-text">EXAMPLE:</span> | ||
chr7 | chr7 | ||
| Line 418: | Line 418: | ||
|Yes | |Yes | ||
|No | |No | ||
|EXAMPLE | |<span class="blue-text">EXAMPLE:</span> | ||
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). | Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). | ||
|- | |- | ||
|EXAMPLE | |<span class="blue-text">EXAMPLE:</span> | ||
8 | 8 | ||
|EXAMPLE Gain | |<span class="blue-text">EXAMPLE:</span> Gain | ||
|EXAMPLE | |<span class="blue-text">EXAMPLE:</span> | ||
chr8:1-145,138,636 [hg38] | chr8:1-145,138,636 [hg38] | ||
|EXAMPLE | |<span class="blue-text">EXAMPLE:</span> | ||
chr8 | chr8 | ||
| Line 435: | Line 435: | ||
|No | |No | ||
|No | |No | ||
|EXAMPLE | |<span class="blue-text">EXAMPLE:</span> | ||
Common recurrent secondary finding for t(8;21) (add reference). | Common recurrent secondary finding for t(8;21) (add reference). | ||
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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'')</span> | 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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Notes | !Notes | ||
|- | |- | ||
|EXAMPLE | |<span class="blue-text">EXAMPLE:</span> | ||
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
| Line 457: | Line 457: | ||
|No | |No | ||
|No | |No | ||
|EXAMPLE: | |<span class="blue-text">EXAMPLE:</span> | ||
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | ||
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!Notes | !Notes | ||
|- | |- | ||
|EXAMPLE: TP53; Variable LOF mutations | |<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations | ||
EXAMPLE: | <span class="blue-text">EXAMPLE:</span> | ||
EGFR; Exon 20 mutations | EGFR; Exon 20 mutations | ||
EXAMPLE: BRAF; Activating mutations | <span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations | ||
|EXAMPLE: TSG | |<span class="blue-text">EXAMPLE:</span> TSG | ||
|EXAMPLE: 20% (COSMIC) | |<span class="blue-text">EXAMPLE:</span> 20% (COSMIC) | ||
EXAMPLE: 30% (add Reference) | <span class="blue-text">EXAMPLE:</span> 30% (add Reference) | ||
|EXAMPLE: IDH1 R123H | |<span class="blue-text">EXAMPLE:</span> IDH1 R123H | ||
|EXAMPLE: EGFR amplification | |<span class="blue-text">EXAMPLE:</span> EGFR amplification | ||
| | | | ||
| | | | ||
| | | | ||
|EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference). | |<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference). | ||
<br /> | <br /> | ||
|} | |} | ||
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
|- | |- | ||
|EXAMPLE: BRAF and MAP2K1; Activating mutations | |<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations | ||
|EXAMPLE: MAPK signaling | |<span class="blue-text">EXAMPLE:</span> MAPK signaling | ||
|EXAMPLE: Increased cell growth and proliferation | |<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation | ||
|- | |- | ||
|EXAMPLE: CDKN2A; Inactivating mutations | |<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations | ||
|EXAMPLE: Cell cycle regulation | |<span class="blue-text">EXAMPLE:</span> Cell cycle regulation | ||
|EXAMPLE: Unregulated cell division | |<span class="blue-text">EXAMPLE:</span> Unregulated cell division | ||
|- | |- | ||
|EXAMPLE: KMT2C and ARID1A; Inactivating mutations | |<span class="blue-text">EXAMPLE:</span> KMT2C and ARID1A; Inactivating mutations | ||
|EXAMPLE: Histone modification, chromatin remodeling | |<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling | ||
|EXAMPLE: Abnormal gene expression program | |<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program | ||
|} | |} | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||