HAEM5:Primary myelofibrosis: Difference between revisions
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{{DISPLAYTITLE:Primary myelofibrosis}} | {{DISPLAYTITLE:Primary myelofibrosis}} | ||
[[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:Primary Myelofibrosis (PMF)]]. | ||
}}</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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==Clinical Features== | ==Clinical Features== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span> | Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span> | ||
{| class="wikitable" | {| class="wikitable" | ||
|'''Signs and Symptoms''' | |'''Signs and Symptoms''' | ||
|EXAMPLE Asymptomatic (incidental finding on complete blood counts) | |<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts) | ||
EXAMPLE B-symptoms (weight loss, fever, night sweats) | <span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats) | ||
EXAMPLE Fatigue | <span class="blue-text">EXAMPLE:</span> Fatigue | ||
EXAMPLE Lymphadenopathy (uncommon) | <span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon) | ||
|- | |- | ||
|'''Laboratory Findings''' | |'''Laboratory Findings''' | ||
|EXAMPLE Cytopenias | |<span class="blue-text">EXAMPLE:</span> Cytopenias | ||
EXAMPLE Lymphocytosis (low level) | <span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level) | ||
|} | |} | ||
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==Immunophenotype== | ==Immunophenotype== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span> | Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Finding!!Marker | !Finding!!Marker | ||
|- | |- | ||
|Positive (universal)||EXAMPLE CD1 | |Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1 | ||
|- | |- | ||
|Positive (subset)||EXAMPLE CD2 | |Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2 | ||
|- | |- | ||
|Negative (universal)||EXAMPLE CD3 | |Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3 | ||
|- | |- | ||
|Negative (subset)||EXAMPLE CD4 | |Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4 | ||
|} | |} | ||
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!Notes | !Notes | ||
|- | |- | ||
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC) | |<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) | ||
EXAMPLE 30% (add reference) | <span class="blue-text">EXAMPLE:</span> 30% (add reference) | ||
|Yes | |Yes | ||
|No | |No | ||
|Yes | |Yes | ||
|EXAMPLE | |<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). | 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). | ||
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==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.'') </span> | 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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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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 | ||
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|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). Monosomy 7/7q deletion is associated with a poor prognosis in AML (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). Monosomy 7/7q deletion is associated with a poor prognosis in AML (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 | ||
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|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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!Chromosome Number!!Gain/Loss/Amp/LOH!!Region | !Chromosome Number!!Gain/Loss/Amp/LOH!!Region | ||
|- | |- | ||
|2||EXAMPLE Gain||EXAMPLE chr8:0-1000000 | |2||<span class="blue-text">EXAMPLE:</span> Gain||<span class="blue-text">EXAMPLE:</span> chr8:0-1000000 | ||
|- | |- | ||
|3||EXAMPLE Loss||EXAMPLE chr7:0-1000000 | |3||<span class="blue-text">EXAMPLE:</span> Loss||<span class="blue-text">EXAMPLE:</span> chr7:0-1000000 | ||
|} | |} | ||
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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 | ||
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|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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==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable. Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Do not delete table.'') </span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
| Line 257: | Line 257: | ||
!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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==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.'')</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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!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 | ||
|} | |} | ||