HAEM5:B lymphoblastic leukaemia/lymphoma with IGH::IL3 fusion: Difference between revisions
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{{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with IGH::IL3 fusion}} | {{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with IGH::IL3 fusion}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours ( | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]] | ||
{{Under Construction}} | {{Under Construction}} | ||
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}}</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) | <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> | ||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
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==Definition / Description of Disease== | ==Definition / Description of Disease== | ||
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable | Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories referring to the specific WHO book pages, diagnostic criteria if applicable, and differential diagnosis if applicable'') </span> | ||
==Synonyms / Terminology== | ==Synonyms / Terminology== | ||
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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 | Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span> | ||
{| class="wikitable" | {| class="wikitable" | ||
|'''Signs and Symptoms''' | |'''Signs and Symptoms''' | ||
| | |EXAMPLE Asymptomatic (incidental finding on complete blood counts) | ||
EXAMPLE B-symptoms (weight loss, fever, night sweats) | |||
EXAMPLE Fatigue | |||
EXAMPLE Lymphadenopathy (uncommon) | |||
|- | |- | ||
|'''Laboratory Findings''' | |'''Laboratory Findings''' | ||
| | |EXAMPLE Cytopenias | ||
EXAMPLE Lymphocytosis (low level) | |||
|} | |} | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; | Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; Example: nodal, extranodal, bone marrow'') </span> | ||
==Morphologic Features== | ==Morphologic Features== | ||
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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 | Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Finding!!Marker | !Finding!!Marker | ||
|- | |- | ||
|Positive (universal)|| | |Positive (universal)||EXAMPLE CD1 | ||
|- | |- | ||
|Positive (subset)|| | |Positive (subset)||EXAMPLE CD2 | ||
|- | |- | ||
|Negative (universal)|| | |Negative (universal)||EXAMPLE CD3 | ||
|- | |- | ||
|Negative (subset)|| | |Negative (subset)||EXAMPLE 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) | ||
EXAMPLE 30% (add reference) | |||
|Yes | |Yes | ||
|No | |No | ||
|Yes | |Yes | ||
| | |EXAMPLE | ||
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 | 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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE | ||
7 | 7 | ||
| | |EXAMPLE Loss | ||
| | |EXAMPLE | ||
chr7:1- 159,335,973 [hg38] | chr7:1- 159,335,973 [hg38] | ||
| | |EXAMPLE | ||
chr7 | chr7 | ||
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|Yes | |Yes | ||
|No | |No | ||
| | |EXAMPLE | ||
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 | ||
8 | 8 | ||
| | |EXAMPLE Gain | ||
| | |EXAMPLE | ||
chr8:1-145,138,636 [hg38] | chr8:1-145,138,636 [hg38] | ||
| | |EXAMPLE | ||
chr8 | chr8 | ||
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|No | |No | ||
|No | |No | ||
| | |EXAMPLE | ||
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 | 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> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE | ||
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
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|No | |No | ||
|No | |No | ||
| | |EXAMPLE: | ||
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 | 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; 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.'') </span> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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!Notes | !Notes | ||
|- | |- | ||
| | |EXAMPLE: TP53; Variable LOF mutations | ||
EXAMPLE: | |||
EGFR; Exon 20 mutations | EGFR; Exon 20 mutations | ||
EXAMPLE: BRAF; Activating mutations | |||
| | |EXAMPLE: TSG | ||
| | |EXAMPLE: 20% (COSMIC) | ||
EXAMPLE: 30% (add Reference) | |||
| | |EXAMPLE: IDH1 R123H | ||
| | |EXAMPLE: EGFR amplification | ||
| | | | ||
| | | | ||
| | | | ||
| | |EXAMPLE: 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 | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the 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 | ||
| | |EXAMPLE: MAPK signaling | ||
| | |EXAMPLE: Increased cell growth and proliferation | ||
|- | |- | ||
| | |EXAMPLE: CDKN2A; Inactivating mutations | ||
| | |EXAMPLE: Cell cycle regulation | ||
| | |EXAMPLE: Unregulated cell division | ||
|- | |- | ||
| | |EXAMPLE: KMT2C and ARID1A; Inactivating mutations | ||
| | |EXAMPLE: Histone modification, chromatin remodeling | ||
| | |EXAMPLE: Abnormal gene expression program | ||
|} | |} | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||