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BRST5:Adenoid Cystic Carcinoma (view source)
Revision as of 18:25, 26 October 2023
, 18:25, 26 October 2023→Primary Author(s)*
!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||Epithelial cells: low molecular weight cytokeratins CK7 and CK8; EMA
|Positive (universal)||Epithelial cells: low molecular weight cytokeratins CK7 and CK8; EMA; SOX10<ref name=":0">{{Cite journal|last=Yang|first=Chen|last2=Zhang|first2=Lingxin|last3=Sanati|first3=Souzan|date=2019|title=SOX10 Is a Sensitive Marker for Breast and Salivary Gland Adenoid Cystic Carcinoma: Immunohistochemical Characterization of Adenoid Cystic Carcinomas|url=https://pubmed.ncbi.nlm.nih.gov/31105427|journal=Breast Cancer: Basic and Clinical Research|volume=13|pages=1178223419842185|doi=10.1177/1178223419842185|issn=1178-2234|pmc=6501487|pmid=31105427}}</ref>
Myoepithelial cells: CK14, CK5/6, p63
Myoepithelial cells: MYB<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>; CK14, CK5/6, SOX10<ref name=":0" />
|-
|-
|Positive (subset)||Epithelial cells: KIT (CD117)
|Positive (subset)||Epithelial cells: KIT (CD117)
Myoepithelial cells: heavy-chain myosin, calponin, S100, CD10
Myoepithelial cells: heavy-chain myosin, calponin, S100, CD10, p63
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|-
|Negative (universal)||ER, PR, HER2, neuroendocrine markers (chromogranin, synaptophysin)
|Negative (universal)||ER, PR, HER2, neuroendocrine markers (chromogranin, synaptophysin)
==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions)==
Recurrent rearrangements of MYB (or, more rarely, the paralogous gene ''MYBL1'') preserve the N-terminal DNA binding domain and transactivation domain in the chimeric gene product. The C-terminal regulatory domains of ''MYB'' or ''MYBL1'' may be lost, but the intact gene is retained in the case of MYB amplification and in the case of some ''MYBL1'' rearrangements.<ref name=":1">{{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=":2">{{Cite journal|last=Kim|first=Jisun|last2=Geyer|first2=Felipe C.|last3=Martelotto|first3=Luciano G.|last4=Ng|first4=Charlotte Ky|last5=Lim|first5=Raymond S.|last6=Selenica|first6=Pier|last7=Li|first7=Anqi|last8=Pareja|first8=Fresia|last9=Fusco|first9=Nicola|date=2018-02|title=MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene|url=https://pubmed.ncbi.nlm.nih.gov/29149504|journal=The Journal of Pathology|volume=244|issue=2|pages=143–150|doi=10.1002/path.5006|issn=1096-9896|pmc=5839480|pmid=29149504}}</ref>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
|No
|No
|Yes
|Yes
|Most common fusion breakpoints involve exon 14 of MYB fused to exon 9 or exon 8c of NFIB
|Most common fusion breakpoints involve exon 14 of ''MYB'' fused to exon 9 or exon 8c of ''NFIB''.<ref name=":1" /><ref>{{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=":3">{{Cite journal|last=Martelotto|first=Luciano G.|last2=De Filippo|first2=Maria R.|last3=Ng|first3=Charlotte K. Y.|last4=Natrajan|first4=Rachael|last5=Fuhrmann|first5=Laetitia|last6=Cyrta|first6=Joanna|last7=Piscuoglio|first7=Salvatore|last8=Wen|first8=Huei-Chi|last9=Lim|first9=Raymond S.|date=2015-10|title=Genomic landscape of adenoid cystic carcinoma of the breast|url=https://pubmed.ncbi.nlm.nih.gov/26095796|journal=The Journal of Pathology|volume=237|issue=2|pages=179–189|doi=10.1002/path.4573|issn=1096-9896|pmc=4676955|pmid=26095796}}</ref>
|-
|t(8;9)(q13.1;p23)
|''MYBL1''::''NFIB''
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|Reported breakpoints involve exon 14 of ''MYBL1'' fused to exon 9 of ''NFIB''<ref name=":2" />
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|t(8;14)(q13.1;q24.1)
|''MYBL1''::''ACTN1''
|
|
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|
|Reported breakpoints involve exon 8 of ''MYBL1'' fused to exon 10 of ''ACTN1''<ref name=":2" />
|-
|rea(6)(q23.3)
|MYB
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|Loss of 3' portion of MYB reported in one case<ref name=":2" />
|}
|}
!Therapeutic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
!Notes
|-
|1
|Gain
|
|1p36.12–p35.3<ref name=":4">{{Cite journal|last=Wetterskog|first=Daniel|last2=Lopez-Garcia|first2=Maria Angeles|last3=Lambros|first3=Maryou B.|last4=A'Hern|first4=Roger|last5=Geyer|first5=Felipe C.|last6=Milanezi|first6=Fernanda|last7=Cabral|first7=Maria C.|last8=Natrajan|first8=Rachael|last9=Gauthier|first9=Arnaud|date=2012-01|title=Adenoid cystic carcinomas constitute a genomically distinct subgroup of triple-negative and basal-like breast cancers|url=https://pubmed.ncbi.nlm.nih.gov/22015727|journal=The Journal of Pathology|volume=226|issue=1|pages=84–96|doi=10.1002/path.2974|issn=1096-9896|pmid=22015727}}</ref>
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|6
|6
|Gain
|Gain/Amp
|chr6:135,502,453-135,540,311 [GRCh37/hg19]
|chr6:135,502,453-135,540,311 [GRCh37/hg19]
|6q23.3
|6q23.3
|No
|No
|No
|No
|MYB amplification
|MYB amplification was a range of 3-10 copies by FISH associated with MYB overexpression<ref name=":2" />
|-
|11
|Gain
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|11p15.5<ref name=":4" />
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|12
|Gain
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|12p13.31<ref name=":4" />
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|16
|Gain
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|16p13.3<ref name=":4" />
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|17
|Gain
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|17q21-q25.1<ref name=":3" />
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|19
|Gain
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|19p13<ref name=":4" />
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|6
|Loss
|
|6q25.3-q26<ref name=":4" />, 6q23.3-6q27<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>
|
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|-
|9
|Loss
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|9p11.1–q21.11<ref name=":4" />
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|12
|Loss
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|12q12-q14.1<ref name=":3" />
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!Notes
!Notes
|-
|-
|NOTCH1; inactivating sequence variants (missense, nonsense, truncating)
|NOTCH1, NOTCH2, and NOTCH3; inactivating sequence variants (missense, nonsense, frameshift truncating)<ref name=":5">{{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>
|Loss of function
|Loss of function
|26%
|20-30%
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|
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|Mostly solid basaloid subtype<br />
|Mostly solid basaloid subtype<br />
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|-
|CREBBP; inactivating sequence variants (missense, nonsense, truncating)
|CREBBP; inactivating sequence variants (missense, nonsense, truncating)<ref name=":5" />
|Loss of function
|Loss of function
|21%
|15-20%
|
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|
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|
|Mostly solid basaloid subtype
|Mostly solid basaloid subtype
|-
|CDK12; missense<ref name=":5" />
|Loss of function
|30-40%
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|ARID1A<ref name=":5" />
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|PIK3R1<ref name=":5" />
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|}
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) 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 cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|-
|-
|MYB; gene fusion or amplification
|MYB; gene fusion or amplification
|Cell cycle, DNA replication, DNA repair
|Cell cycle (MYC and NOTCH signaling), DNA replication, DNA repair
|Promotes cellular proliferation
|Promotes cellular proliferation
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|MYBL1; gene fusion
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