Compendium of Cancer Genome Aberrations

BRST5:Adenoid cystic carcinoma: Difference between revisions

[checked revision][checked revision]
← Older edit
VisualWikitext
No edit summary
No edit summary
 
(3 intermediate revisions by 2 users not shown)
Line 1: Line 1:
{{DISPLAYTITLE:Adenoid cystic carcinoma}}
{{DISPLAYTITLE:Adenoid cystic carcinoma}}
[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]]
[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]]
{{Under Construction}}
<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)*==
Jun Liao, PhD, Columbia University Irving Medical Center, NY, USA
Jun Liao, PhD, Columbia University Irving Medical Center, NY, USA
Line 31: Line 28:
|}
|}


==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"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<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==
==Related Terminology==


<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|N/A
|-
|-
|Not Recommended
|Not Recommended
|
|Carcinoma adenoides cysticum; adenocystic basal cell carcinoma; cylindromatous carcinoma
|}
|}


==Gene Rearrangements==
==Gene Rearrangements==
[[File:MYB-NFIB fusion diagram.tif|left|frameless|839x839px|'''''MYB''::''NFIB'''''[GM1] . Gene fusion diagram showing the canonical breakpoints in exon 15 of ''MYB'' (NM_00130173) and exon 11 of ''NFIB'' (NM_001190737). Alternate fusion breakpoints in ''NFIB'' include exons 8, 9, or 12.]]
<br />
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
Line 72: Line 52:
|''MYB''
|''MYB''
|''MYB''::''NFIB''
|''MYB''::''NFIB''
|Fusion transcripts most commonly join exon 8 or exon 14 of ''MYB'' with exon 9 of ''NFIB'' and result in overexpression of ''MYB''.<ref name=":2">{{Cite journal|last=Persson|first=Marta|last2=Andrén|first2=Ywonne|last3=Mark|first3=Joachim|last4=Horlings|first4=Hugo M.|last5=Persson|first5=Fredrik|last6=Stenman|first6=Göran|date=2009-11-03|title=Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck|url=https://pubmed.ncbi.nlm.nih.gov/19841262|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=106|issue=44|pages=18740–18744|doi=10.1073/pnas.0909114106|issn=1091-6490|pmc=2773970|pmid=19841262}}</ref><ref name=":1">{{Cite journal|last=Brill|first=Louis B.|last2=Kanner|first2=William A.|last3=Fehr|first3=André|last4=Andrén|first4=Ywonne|last5=Moskaluk|first5=Christopher A.|last6=Löning|first6=Thomas|last7=Stenman|first7=Göran|last8=Frierson|first8=Henry F.|date=2011-09|title=Analysis of MYB expression and MYB-NFIB gene fusions in adenoid cystic carcinoma and other salivary neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/21572406|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=24|issue=9|pages=1169–1176|doi=10.1038/modpathol.2011.86|issn=1530-0285|pmid=21572406}}</ref><ref name=":3">{{Cite journal|last=D'Alfonso|first=Timothy M.|last2=Mosquera|first2=Juan Miguel|last3=MacDonald|first3=Theresa Y.|last4=Padilla|first4=Jessica|last5=Liu|first5=Yi-Fang|last6=Rubin|first6=Mark A.|last7=Shin|first7=Sandra J.|date=2014-11|title=MYB-NFIB gene fusion in adenoid cystic carcinoma of the breast with special focus paid to the solid variant with basaloid features|url=https://pubmed.ncbi.nlm.nih.gov/25217885|journal=Human Pathology|volume=45|issue=11|pages=2270–2280|doi=10.1016/j.humpath.2014.07.013|issn=1532-8392|pmid=25217885}}</ref><ref name=":4">{{Cite journal|last=Mitani|first=Yoshitsugu|last2=Liu|first2=Bin|last3=Rao|first3=Pulivarthi H.|last4=Borra|first4=Vishnupriya J.|last5=Zafereo|first5=Mark|last6=Weber|first6=Randal S.|last7=Kies|first7=Merrill|last8=Lozano|first8=Guillermina|last9=Futreal|first9=P. Andrew|date=2016-02-01|title=Novel MYBL1 Gene Rearrangements with Recurrent MYBL1-NFIB Fusions in Salivary Adenoid Cystic Carcinomas Lacking t(6;9) Translocations|url=https://pubmed.ncbi.nlm.nih.gov/26631609|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=22|issue=3|pages=725–733|doi=10.1158/1078-0432.CCR-15-2867-T|issn=1557-3265|pmc=4807116|pmid=26631609}}</ref> Fusions translocate super-enhancers in the partner gene to ''MYB''.<ref>{{Cite journal|last=Drier|first=Yotam|last2=Cotton|first2=Matthew J.|last3=Williamson|first3=Kaylyn E.|last4=Gillespie|first4=Shawn M.|last5=Ryan|first5=Russell J. H.|last6=Kluk|first6=Michael J.|last7=Carey|first7=Christopher D.|last8=Rodig|first8=Scott J.|last9=Sholl|first9=Lynette M.|date=2016-03|title=An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/26829750|journal=Nature Genetics|volume=48|issue=3|pages=265–272|doi=10.1038/ng.3502|issn=1546-1718|pmc=4767593|pmid=26829750}}</ref> Fusion transcripts lack ''MYB'' exon 15 including the 3' UTR, which contains target sites for microRNAs that negatively regulate ''MYB.''<ref name=":2" />
|Fusion transcripts join exon 8, 13, or 14 of ''MYB'' with exon 8, 9, 11, or 12 of ''NFIB'' and result in overexpression of ''MYB''.<ref name=":2">{{Cite journal|last=Persson|first=Marta|last2=Andrén|first2=Ywonne|last3=Mark|first3=Joachim|last4=Horlings|first4=Hugo M.|last5=Persson|first5=Fredrik|last6=Stenman|first6=Göran|date=2009-11-03|title=Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck|url=https://pubmed.ncbi.nlm.nih.gov/19841262|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=106|issue=44|pages=18740–18744|doi=10.1073/pnas.0909114106|issn=1091-6490|pmc=2773970|pmid=19841262}}</ref><ref name=":1">{{Cite journal|last=Brill|first=Louis B.|last2=Kanner|first2=William A.|last3=Fehr|first3=André|last4=Andrén|first4=Ywonne|last5=Moskaluk|first5=Christopher A.|last6=Löning|first6=Thomas|last7=Stenman|first7=Göran|last8=Frierson|first8=Henry F.|date=2011-09|title=Analysis of MYB expression and MYB-NFIB gene fusions in adenoid cystic carcinoma and other salivary neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/21572406|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=24|issue=9|pages=1169–1176|doi=10.1038/modpathol.2011.86|issn=1530-0285|pmid=21572406}}</ref><ref name=":3">{{Cite journal|last=D'Alfonso|first=Timothy M.|last2=Mosquera|first2=Juan Miguel|last3=MacDonald|first3=Theresa Y.|last4=Padilla|first4=Jessica|last5=Liu|first5=Yi-Fang|last6=Rubin|first6=Mark A.|last7=Shin|first7=Sandra J.|date=2014-11|title=MYB-NFIB gene fusion in adenoid cystic carcinoma of the breast with special focus paid to the solid variant with basaloid features|url=https://pubmed.ncbi.nlm.nih.gov/25217885|journal=Human Pathology|volume=45|issue=11|pages=2270–2280|doi=10.1016/j.humpath.2014.07.013|issn=1532-8392|pmid=25217885}}</ref><ref name=":4">{{Cite journal|last=Mitani|first=Yoshitsugu|last2=Liu|first2=Bin|last3=Rao|first3=Pulivarthi H.|last4=Borra|first4=Vishnupriya J.|last5=Zafereo|first5=Mark|last6=Weber|first6=Randal S.|last7=Kies|first7=Merrill|last8=Lozano|first8=Guillermina|last9=Futreal|first9=P. Andrew|date=2016-02-01|title=Novel MYBL1 Gene Rearrangements with Recurrent MYBL1-NFIB Fusions in Salivary Adenoid Cystic Carcinomas Lacking t(6;9) Translocations|url=https://pubmed.ncbi.nlm.nih.gov/26631609|journal=Clinical Cancer Research: An Official Journal of the American Association for Cancer Research|volume=22|issue=3|pages=725–733|doi=10.1158/1078-0432.CCR-15-2867-T|issn=1557-3265|pmc=4807116|pmid=26631609}}</ref> Fusions translocate super-enhancers in the partner gene to ''MYB''.<ref>{{Cite journal|last=Drier|first=Yotam|last2=Cotton|first2=Matthew J.|last3=Williamson|first3=Kaylyn E.|last4=Gillespie|first4=Shawn M.|last5=Ryan|first5=Russell J. H.|last6=Kluk|first6=Michael J.|last7=Carey|first7=Christopher D.|last8=Rodig|first8=Scott J.|last9=Sholl|first9=Lynette M.|date=2016-03|title=An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/26829750|journal=Nature Genetics|volume=48|issue=3|pages=265–272|doi=10.1038/ng.3502|issn=1546-1718|pmc=4767593|pmid=26829750}}</ref> Fusion transcripts lack ''MYB'' exon 15 including the 3' UTR, which contains target sites for microRNAs that negatively regulate ''MYB.''<ref name=":2" />
|t(6;9)(q23.3;p23)
|t(6;9)(q23.3;p23)
|Common
|Common
Line 94: Line 74:
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|6
|6
Line 127: Line 107:
==Characteristic Chromosomal or Other Global Mutational Patterns==
==Characteristic Chromosomal or Other Global Mutational Patterns==


<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|
|
Line 153: Line 131:
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|''MYB''
|''MYB''
Line 266: Line 244:




Put your text here
 
 
 
<br />
==Links==
==Links==
https://www.pathologyoutlines.com/topic/breastmalignantadenoidcystic.html
https://www.pathologyoutlines.com/topic/breastmalignantadenoidcystic.html
Retrieved from "https://test.ccga.io/index.php/BRST5:Adenoid_cystic_carcinoma"