Difference between revisions of "HAEM5:B lymphoblastic leukaemia/lymphoma with IGH::IL3 fusion"
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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)*== | ||
Line 27: | Line 27: | ||
==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== | ||
Line 39: | Line 39: | ||
==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== | ||
Line 66: | Line 66: | ||
==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" | ||
Line 72: | Line 72: | ||
!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 |
|} | |} | ||
Line 93: | Line 93: | ||
!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). | ||
Line 105: | Line 105: | ||
==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" | ||
Line 115: | Line 115: | ||
!Notes | !Notes | ||
|- | |- | ||
− | | | + | |EXAMPLE |
7 | 7 | ||
− | | | + | |EXAMPLE Loss |
− | | | + | |EXAMPLE |
chr7:1- 159,335,973 [hg38] | chr7:1- 159,335,973 [hg38] | ||
− | | | + | |EXAMPLE |
chr7 | chr7 | ||
Line 128: | Line 128: | ||
|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 | ||
Line 145: | Line 145: | ||
|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). | ||
Line 151: | Line 151: | ||
==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" | ||
Line 161: | Line 161: | ||
!Notes | !Notes | ||
|- | |- | ||
− | | | + | |EXAMPLE |
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
Line 167: | Line 167: | ||
|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). | ||
Line 173: | Line 173: | ||
==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" | ||
Line 183: | Line 183: | ||
!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 /> | ||
|} | |} | ||
Line 210: | Line 210: | ||
==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== |
Revision as of 14:56, 6 September 2024
Haematolymphoid Tumours (5th ed.)
This page is under construction |
editHAEM5 Conversion NotesThis page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:B-Lymphoblastic Leukemia/Lymphoma with t(5;14)(q31.1;q32.1); IGH/IL3.
(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), 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 Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support)
Primary Author(s)*
Binu Porath, PhD. Vanderbilt University Medical Center, Nashville, TN
Linda D. Cooley, MD, MBA. Children's Mercy Kansas City, Kansas City, MO
Cancer Category / Type
B-Lymphoblastic Leukemia/Lymphoma
Cancer Sub-Classification / Subtype
B-Lymphoblastic Leukemia/Lymphoma with t(5;14)(q31.1;q32.1); IGH/IL3
Definition / Description of Disease
Put your text here (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)
Synonyms / Terminology
Put your text here (Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.)
Epidemiology / Prevalence
Put your text here
Clinical Features
Put your text here and fill in the table (Instruction: Can include references in the table)
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 | EXAMPLE Cytopenias
EXAMPLE Lymphocytosis (low level) |
Sites of Involvement
Put your text here (Instruction: Indicate physical sites; Example: nodal, extranodal, bone marrow)
Morphologic Features
Put your text here
Immunophenotype
Put your text here and fill in the table (Instruction: Can include references in the table)
Finding | Marker |
---|---|
Positive (universal) | EXAMPLE CD1 |
Positive (subset) | EXAMPLE CD2 |
Negative (universal) | EXAMPLE CD3 |
Negative (subset) | EXAMPLE CD4 |
Chromosomal Rearrangements (Gene Fusions)
Put your text here and fill in the table
Chromosomal Rearrangement | Genes in Fusion (5’ or 3’ Segments) | Pathogenic Derivative | Prevalence | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
---|---|---|---|---|---|---|---|
EXAMPLE t(9;22)(q34;q11.2) | EXAMPLE 3'ABL1 / 5'BCR | EXAMPLE der(22) | EXAMPLE 20% (COSMIC)
EXAMPLE 30% (add reference) |
Yes | No | 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). |
Individual Region Genomic Gain / Loss / LOH
Put your text here and fill in the table (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.)
Chr # | Gain / Loss / Amp / LOH | Minimal Region Genomic Coordinates [Genome Build] | Minimal Region Cytoband | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
---|---|---|---|---|---|---|---|
EXAMPLE
7 |
EXAMPLE Loss | EXAMPLE
chr7:1- 159,335,973 [hg38] |
EXAMPLE
chr7 |
Yes | Yes | 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). |
EXAMPLE
8 |
EXAMPLE Gain | EXAMPLE
chr8:1-145,138,636 [hg38] |
EXAMPLE
chr8 |
No | No | No | EXAMPLE
Common recurrent secondary finding for t(8;21) (add reference). |
Characteristic Chromosomal Patterns
Put your text here (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)
Chromosomal Pattern | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
---|---|---|---|---|
EXAMPLE
Co-deletion of 1p and 18q |
Yes | No | No | EXAMPLE:
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). |
Gene Mutations (SNV / INDEL)
Put your text here and fill in the table (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.)
Gene; Genetic Alteration | Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) | Prevalence (COSMIC / TCGA / Other) | Concomitant Mutations | Mutually Exclusive Mutations | Diagnostic Significance (Yes, No or Unknown) | Prognostic Significance (Yes, No or Unknown) | Therapeutic Significance (Yes, No or Unknown) | Notes |
---|---|---|---|---|---|---|---|---|
EXAMPLE: TP53; Variable LOF mutations
EXAMPLE: 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).
|
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
Put your text here
Genes and Main Pathways Involved
Put your text here and fill in the table (Instructions: Can include references in the table.)
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
Put your text here
Familial Forms
Put your text here (Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.)
Additional Information
Put your text here
Links
Put your links here (use "Link" icon at top of page)
References
(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference.)
Notes
*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. *Citation of this Page: “B lymphoblastic leukaemia/lymphoma with IGH::IL3 fusion”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 09/6/2024, https://ccga.io/index.php/HAEM5:B_lymphoblastic_leukaemia/lymphoma_with_IGH::IL3_fusion.