BRST5:Adenoid cystic carcinoma: Difference between revisions

|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" />  

|''NOTCH''

|Rare<ref name=":6">{{Cite journal|last=Massé|first=Julie|last2=Truntzer|first2=Caroline|last3=Boidot|first3=Romain|last4=Khalifa|first4=Emmanuel|last5=Pérot|first5=Gaëlle|last6=Velasco|first6=Valérie|last7=Mayeur|first7=Laétitia|last8=Billerey-Larmonier|first8=Claire|last9=Blanchard|first9=Larry|date=2020-06|title=Solid-type adenoid cystic carcinoma of the breast, a distinct molecular entity enriched in NOTCH and CREBBP mutations|url=https://pubmed.ncbi.nlm.nih.gov/31857685|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=33|issue=6|pages=1041–1055|doi=10.1038/s41379-019-0425-3|issn=1530-0285|pmid=31857685}}</ref>

|Rare<ref name=":6" />