Compendium of Cancer Genome Aberrations

BRST5:Adenoid cystic carcinoma: Difference between revisions

[checked revision][checked revision]
← Older editNewer edit →
VisualWikitext
No edit summary
No edit summary
Line 69: Line 69:
|''MYBL1''
|''MYBL1''
|''MYBL1''::''NFIB''
|''MYBL1''::''NFIB''
|Fusions most commonly join exon 8 or exon 14 of ''MYBL1'' with exon 11 of ''NFIB.''<ref name=":4" />  
|Fusions most commonly join exon 8 or exon 14 of ''MYBL1'' with exon 11 of ''NFIB.''<ref name=":4" />
|t(8;9)(q13.1;p23)
|t(8;9)(q13.1;p23)
|Rare
|Rare
Line 129: Line 129:
|}
|}
==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 more common 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"
|-
|-
Line 153: Line 153:
|
|
|
|
|-
|''NOTCH''
|Activating mutations
|Oncogene
|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>
|
|
|Enriched in solid-type adenoid cystic carcinomas of the breast<ref name=":6" />
|-
|''CREBBP''
|Activating mutations
|Oncogene
|Rare<ref name=":6" />
|
|
|Enriched in solid-type adenoid cystic carcinomas of the breast<ref name=":6" />
|-
|-
|''FBXW7''
|''FBXW7''
|Inactivating
|Inactivating mutations
|Tumor Suppressor Gene
|Tumor Suppressor Gene
|Rare<ref name=":0" />
|Rare<ref name=":0" />
Line 163: Line 179:
|-
|-
|''SMARCA5''
|''SMARCA5''
|Inactivating
|Inactivating mutations
|Tumor Suppressor Gene
|Tumor Suppressor Gene
|Rare<ref name=":0" />
|Rare<ref name=":0" />
Line 171: Line 187:
|-
|-
|''SF3B1''
|''SF3B1''
|Activating
|Activating mutations
|Other
|Other
|Rare<ref name=":0" />
|Rare<ref name=":0" />
Line 179: Line 195:
|-
|-
|''FGFR2''
|''FGFR2''
|Activating
|Activating mutations
|Oncogene
|Oncogene
|Rare<ref name=":0" />
|Rare<ref name=":0" />
Line 187: Line 203:
|-
|-
|''MTOR''
|''MTOR''
|Activating
|Activating mutations
|Oncogene
|Oncogene
|Rare<ref name=":0" />
|Rare<ref name=":0" />
Line 202: Line 218:
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
|''MYB'' or ''MYBL1''; activating fusions most common; rarely other sequence or structural alterations or amplification
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|Transcription factor
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|Increased cell growth and proliferation<ref>{{Cite journal|last=Andersson|first=Mattias K.|last2=Mangiapane|first2=Giovanna|last3=Nevado|first3=Paloma Tejera|last4=Tsakaneli|first4=Alexia|last5=Carlsson|first5=Therese|last6=Corda|first6=Gabriele|last7=Nieddu|first7=Valentina|last8=Abrahamian|first8=Carla|last9=Chayka|first9=Olesya|date=2020-01-30|title=ATR is a MYB regulated gene and potential therapeutic target in adenoid cystic carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/32001675|journal=Oncogenesis|volume=9|issue=1|pages=5|doi=10.1038/s41389-020-0194-3|issn=2157-9024|pmc=6992744|pmid=32001675}}</ref>
|-
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|-
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
|-
|-
|
|
Retrieved from "https://test.ccga.io/index.php/BRST5:Adenoid_cystic_carcinoma"