BRST5:Adenoid cystic carcinoma: Difference between revisions
| [checked revision] | [checked revision] |
Kgeiersbach (talk | contribs) No edit summary |
Bailey.Glen (talk | contribs) No edit summary |
||
| (8 intermediate revisions by 2 users not shown) | |||
| Line 1: | Line 1: | ||
{{DISPLAYTITLE:Adenoid cystic carcinoma}} | |||
[[BRST5:Table_of_Contents|Breast Tumours (WHO Classification, 5th ed.)]] | |||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
Jun Liao, PhD, Columbia University | Jun Liao, PhD, Columbia University Irving Medical Center, NY, USA | ||
Katherine Geiersbach, MD, Mayo Clinic - Rochester, MN, USA | |||
==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
{| class="wikitable" | {| class="wikitable" | ||
!Structure | !Structure | ||
| Line 9: | Line 13: | ||
|- | |- | ||
|Book | |Book | ||
| | |Breast Tumours (5th ed.) | ||
|- | |- | ||
|Category | |Category | ||
| | |Epithelial tumours of the breast | ||
|- | |- | ||
|Family | |Family | ||
| | |Rare and salivary gland-type tumours: Introduction | ||
|- | |- | ||
|Type | |Type | ||
| | |Adenoid cystic carcinoma | ||
|- | |- | ||
|Subtype(s) | |Subtype(s) | ||
| | |N/A | ||
|} | |} | ||
==Related Terminology== | ==Related Terminology== | ||
{| 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 60: | Line 52: | ||
|''MYB'' | |''MYB'' | ||
|''MYB''::''NFIB'' | |''MYB''::''NFIB'' | ||
|Fusion transcripts | |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 76: | Line 68: | ||
| | | | ||
|} | |} | ||
==Individual Region Genomic Gain/Loss/LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
<br /> | <br /> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Chr #!! | !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 | ||
! | !Established Clinical Significance Per Guidelines - Yes or No (Source) | ||
! | !Clinical Relevance Details/Other Notes | ||
|- | |- | ||
|6 | |6 | ||
| Line 109: | Line 103: | ||
| | | | ||
|} | |} | ||
==Characteristic Chromosomal or Other Global Mutational Patterns== | ==Characteristic Chromosomal or Other Global Mutational Patterns== | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Chromosomal Pattern | !Chromosomal Pattern | ||
!Molecular Pathogenesis | !Molecular Pathogenesis | ||
! | !Prevalence - | ||
Common >20%, Recurrent 5-20% or Rare <5% (Disease) | |||
! | !Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | ||
! | !Established Clinical Significance Per Guidelines - Yes or No (Source) | ||
! | !Clinical Relevance Details/Other Notes | ||
|- | |- | ||
| | | | ||
| Line 128: | Line 124: | ||
| | | | ||
|} | |} | ||
==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
Recurrent mutations are shown in the table below. Adenoid cystic carcinoma does not share the typical mutation profile of most triple negative breast cancers and generally lacks mutations in ''TP53'', ''PIK3CA'', and ''BRCA1''.<ref name=":0" /> Progression to high-grade triple-negative breast cancer has been described, with additional sub-clonal mutations in genes including ''MYB''.<ref>{{Cite journal|last=Fusco|first=Nicola|last2=Geyer|first2=Felipe C.|last3=De Filippo|first3=Maria R.|last4=Martelotto|first4=Luciano G.|last5=Ng|first5=Charlotte K. Y.|last6=Piscuoglio|first6=Salvatore|last7=Guerini-Rocco|first7=Elena|last8=Schultheis|first8=Anne M.|last9=Fuhrmann|first9=Laetitia|date=2016-11|title=Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer|url=https://pubmed.ncbi.nlm.nih.gov/27491809|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=29|issue=11|pages=1292–1305|doi=10.1038/modpathol.2016.134|issn=1530-0285|pmc=5083185|pmid=27491809}}</ref><br /> | Recurrent mutations are shown in the table below. Adenoid cystic carcinoma does not share the typical mutation profile of most triple negative breast cancers and generally lacks mutations in ''TP53'', ''PIK3CA'', and ''BRCA1''.<ref name=":0" /> Progression to high-grade triple-negative breast cancer has been described, with additional sub-clonal mutations in genes including ''MYB''.<ref>{{Cite journal|last=Fusco|first=Nicola|last2=Geyer|first2=Felipe C.|last3=De Filippo|first3=Maria R.|last4=Martelotto|first4=Luciano G.|last5=Ng|first5=Charlotte K. Y.|last6=Piscuoglio|first6=Salvatore|last7=Guerini-Rocco|first7=Elena|last8=Schultheis|first8=Anne M.|last9=Fuhrmann|first9=Laetitia|date=2016-11|title=Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer|url=https://pubmed.ncbi.nlm.nih.gov/27491809|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=29|issue=11|pages=1292–1305|doi=10.1038/modpathol.2016.134|issn=1530-0285|pmc=5083185|pmid=27491809}}</ref><br /> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene!! | !Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence - | ||
Common >20%, Recurrent 5-20% or Rare <5% (Disease) | |||
! | !Diagnostic, Prognostic, and Therapeutic Significance - D, P, T | ||
! | !Established Clinical Significance Per Guidelines - Yes or No (Source) | ||
! | !Clinical Relevance Details/Other Notes | ||
|- | |- | ||
|''MYB'' | |''MYB'' | ||
| Line 218: | Line 217: | ||
| | | | ||
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | |}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | ||
==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
<br /> | |||
==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
<br /> | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
| Line 234: | Line 235: | ||
| | | | ||
|} | |} | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
Next generation sequencing for fusion detection and gene mutation profiling as applicable. Fluorescence in situ hybridization (FISH) for ''MYB'' rearrangement, typically with a "break-apart" probe design using differentially labeled 5' and 3' flanking probes to detect rearrangements of the ''MYB'' gene locus. Immunohistochemistry for MYB expression was more sensitive and specific than FISH in one study | Next generation sequencing for fusion detection and gene mutation profiling as applicable. Fluorescence in situ hybridization (FISH) for ''MYB'' rearrangement, typically with a "break-apart" probe design using differentially labeled 5' and 3' flanking probes to detect rearrangements of the ''MYB'' gene locus. Immunohistochemistry for MYB expression was more sensitive and specific than FISH in one study<ref>{{Cite journal|last=Poling|first=Justin S.|last2=Yonescu|first2=Raluca|last3=Subhawong|first3=Andrea P.|last4=Sharma|first4=Rajni|last5=Argani|first5=Pedram|last6=Ning|first6=Yi|last7=Cimino-Mathews|first7=Ashley|date=2017-07|title=MYB Labeling by Immunohistochemistry Is More Sensitive and Specific for Breast Adenoid Cystic Carcinoma than MYB Labeling by FISH|url=https://pubmed.ncbi.nlm.nih.gov/28498281|journal=The American Journal of Surgical Pathology|volume=41|issue=7|pages=973–979|doi=10.1097/PAS.0000000000000878|issn=1532-0979|pmid=28498281}}</ref> but was demonstrated to be less specific with MYB staining also present in adenomyoepithelioma of the breast in another study.<ref>{{Cite journal|last=Baraban|first=Ezra|last2=Zhang|first2=Paul J.|last3=Jaffer|first3=Shabnam|last4=Lubin|first4=Daniel|last5=Feldman|first5=Michael|last6=Bleiweiss|first6=Ira J.|last7=Nayak|first7=Anupma|date=2018-12|title=MYB rearrangement and immunohistochemical expression in adenomyoepithelioma of the breast: a comparison with adenoid cystic carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/30003572|journal=Histopathology|volume=73|issue=6|pages=897–903|doi=10.1111/his.13708|issn=1365-2559|pmid=30003572}}</ref> | ||
==Familial Forms== | ==Familial Forms== | ||
None | |||
==Additional Information== | ==Additional Information== | ||
<br /> | |||
==Links== | ==Links== | ||
https://www.pathologyoutlines.com/topic/breastmalignantadenoidcystic.html | |||
==Notes== | ==Notes== | ||
<nowiki>*</nowiki>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 [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author. | <nowiki>*</nowiki>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 [[Leadership|''<u>Associate Editor</u>'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author. | ||
Prior Author(s): | Prior Author(s): | ||
<br /> | <br /> | ||
==References== | ==References== | ||
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. 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. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> | (use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. 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. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> | ||
<references /> | <references /> | ||
<nowiki>*</nowiki>''Citation of this Page'': “Adenoid cystic carcinoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/BRST5:Adenoid cystic carcinoma</nowiki>. | |||
[[Category:BRST5]] | |||
[[Category:DISEASE]] | |||
[[Category:Diseases A]] | |||