Compendium of Cancer Genome Aberrations

HAEM5:In situ mantle cell neoplasm: Difference between revisions

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<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>
<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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==Chromosomal Rearrangements (Gene Fusions)==
==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>
{| class="wikitable"
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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>
{| class="wikitable"
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|Acceptable
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|-
|Not Recommended
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==Gene Rearrangements==


The balanced translocation t(11;14)(q13;q32) is characteristic of mantle cell lymphoma and was identified in all cases of histologically identified in situ mantle cell neoplasm (whenever it was examined for in addition to the overexpression of cyclin D1 protein).  
The balanced translocation t(11;14)(q13;q32) is characteristic of mantle cell lymphoma and was identified in all cases of histologically identified in situ mantle cell neoplasm (whenever it was examined for in addition to the overexpression of cyclin D1 protein).  
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==Individual Region Genomic Gain / Loss / LOH==
==Individual Region Genomic Gain/Loss/LOH==


These have not been studied specifically for in situ mantle cell neoplasm.
These have not been studied specifically for in situ mantle cell neoplasm.
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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 or Other Global Mutational 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. Do not delete table.'')</span>


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"
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|-
!Chromosomal Pattern
!Chromosomal Pattern
!Diagnostic Significance (Yes, No or Unknown)
!Molecular Pathogenesis
!Prognostic Significance (Yes, No or Unknown)
!'''Prevalence -'''
!Therapeutic Significance (Yes, No or Unknown)
'''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
|Yes
|<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).
|No
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
|No
|<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
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 (Endometrial carcinoma)
|<span class="blue-text">EXAMPLE:</span> P, T
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==Gene Mutations (SNV / INDEL)==
==Gene Mutations (SNV/INDEL)==


There are numerous publications for gene mutations in overt mantle cell lymphoma. A recent systematic meta-analysis of 32 studies published during 2006 to 2019, excluding review articles, detailed the findings for gene mutations in mantle cell lymphoma by analyzing 2127 individual overt mantle cell lymphoma patients and 2173 samples that were included in the analyzed studies.<ref name=":10">{{Cite journal|last=Hill|first=Holly A.|last2=Qi|first2=Xinyue|last3=Jain|first3=Preetesh|last4=Nomie|first4=Krystle|last5=Wang|first5=Yucai|last6=Zhou|first6=Shouhao|last7=Wang|first7=Michael L.|date=2020-07-14|title=Genetic mutations and features of mantle cell lymphoma: a systematic review and meta-analysis|url=https://pubmed.ncbi.nlm.nih.gov/32598477|journal=Blood Advances|volume=4|issue=13|pages=2927–2938|doi=10.1182/bloodadvances.2019001350|issn=2473-9537|pmc=7362354|pmid=32598477}}</ref>  These studies included the nodal and the leukemic forms of overt mantle cell lymphoma. As per this meta-analysis, in overt mantle cell lymphoma tumor or bone marrow samples at diagnosis or baseline, the most frequent genetic abnormalities occurred in the ''ATM'' (43.5%), ''TP53'' (26.8%), ''CDKN2A'' (23.9%), ''CCND1'' (20.2%), ''NSD2'' (15.0%), ''KMT2A'' (8.9%), ''S1PR1'' (8.6%), and ''CARD11'' (8.5%) genes.<ref name=":10" /> Aberrations in ''IGH'' (38.4%) and ''MYC'' (20.8%) were detected primarily through cytogenetic methods, also in those same tumor specimens.<ref name=":10" />
There are numerous publications for gene mutations in overt mantle cell lymphoma. A recent systematic meta-analysis of 32 studies published during 2006 to 2019, excluding review articles, detailed the findings for gene mutations in mantle cell lymphoma by analyzing 2127 individual overt mantle cell lymphoma patients and 2173 samples that were included in the analyzed studies.<ref name=":10">{{Cite journal|last=Hill|first=Holly A.|last2=Qi|first2=Xinyue|last3=Jain|first3=Preetesh|last4=Nomie|first4=Krystle|last5=Wang|first5=Yucai|last6=Zhou|first6=Shouhao|last7=Wang|first7=Michael L.|date=2020-07-14|title=Genetic mutations and features of mantle cell lymphoma: a systematic review and meta-analysis|url=https://pubmed.ncbi.nlm.nih.gov/32598477|journal=Blood Advances|volume=4|issue=13|pages=2927–2938|doi=10.1182/bloodadvances.2019001350|issn=2473-9537|pmc=7362354|pmid=32598477}}</ref>  These studies included the nodal and the leukemic forms of overt mantle cell lymphoma. As per this meta-analysis, in overt mantle cell lymphoma tumor or bone marrow samples at diagnosis or baseline, the most frequent genetic abnormalities occurred in the ''ATM'' (43.5%), ''TP53'' (26.8%), ''CDKN2A'' (23.9%), ''CCND1'' (20.2%), ''NSD2'' (15.0%), ''KMT2A'' (8.9%), ''S1PR1'' (8.6%), and ''CARD11'' (8.5%) genes.<ref name=":10" /> Aberrations in ''IGH'' (38.4%) and ''MYC'' (20.8%) were detected primarily through cytogenetic methods, also in those same tumor specimens.<ref name=":10" />
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