HAEM5:Acute myeloid leukaemia with CBFB::MYH11 fusion: Difference between revisions
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<span style="color:#0070C0">(General Instructions – The | <span style="color:#0070C0">(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], 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 in a table, click nearby within the table and select the > symbol that appears. 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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== | ==WHO Essential and Desirable Genetic Diagnostic Criteria== | ||
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span> | |||
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|WHO Essential Criteria (Genetics)* | |||
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|WHO Desirable Criteria (Genetics)* | |||
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|Other Classification | |||
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<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>]. | |||
==Related Terminology== | |||
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span> | |||
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|Acceptable | |||
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|Not Recommended | |||
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==Gene Rearrangements== | |||
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==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
inv(16)(p13.1q22) or t(16;16)(p13.1;q22) is the sole chromosome aberration in approximately 60% of cases. | inv(16)(p13.1q22) or t(16;16)(p13.1;q22) is the sole chromosome aberration in approximately 60% of cases. | ||
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==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal or Other Global Mutational Patterns== | ||
Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as 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; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span> | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Chromosomal Pattern | !Chromosomal Pattern | ||
! | !Molecular Pathogenesis | ||
!Prognostic Significance | !'''Prevalence -''' | ||
! | '''Common >20%, Recurrent 5-20% or Rare <5% (Disease)''' | ||
!Notes | !'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T''' | ||
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)''' | |||
!'''Clinical Relevance Details/Other Notes''' | |||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> | ||
Co-deletion of 1p and 18q | Co-deletion of 1p and 18q | ||
| | |<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). | ||
| | |<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma) | ||
| | |<span class="blue-text">EXAMPLE:</span> D, P | ||
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|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> | ||
Microsatellite instability - hypermutated | |||
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|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma) | |||
|<span class="blue-text">EXAMPLE:</span> P, T | |||
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</blockquote> | </blockquote> | ||
==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) has genetic heterogeneity at the molecular level. Several genes have been identified that are frequently mutated in this subset of AML, some of them adversely affecting prognosis. | AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) has genetic heterogeneity at the molecular level. Several genes have been identified that are frequently mutated in this subset of AML, some of them adversely affecting prognosis. | ||
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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: | |||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span> | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations | |<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations | ||
|<span class="blue-text">EXAMPLE:</span> MAPK signaling | |<span class="blue-text">EXAMPLE:</span> MAPK signaling | ||
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation | |<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations | |<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations | ||
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation | |<span class="blue-text">EXAMPLE:</span> Cell cycle regulation | ||
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division | |<span class="blue-text">EXAMPLE:</span> Unregulated cell division | ||
|- | |- | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling | ||
|<span class="blue-text">EXAMPLE:</span> | |<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program | ||
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