Compendium of Cancer Genome Aberrations

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BRST5:Adenoid Cystic Carcinoma (view source)

Revision as of 11:19, 26 October 2023

408 bytes removed ,  11:19, 26 October 2023
→‎Primary Author(s)*
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{{Under Construction}}
   
==Primary Author(s)*==
 
==Primary Author(s)*==
   −
Katherine Geiersbach, MD, Mayo Clinic
+
Katherine Geiersbach, MD, Mayo Clinic, and Jun Liao, PhD, Columbia University Irving Medical Center
    
__TOC__
 
__TOC__
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==Cancer Category/Type==
 
==Cancer Category/Type==
   −
Put your text here
+
Breast Cancer / Epithelial Tumours of the Breast
    
==Cancer Sub-Classification / Subtype==
 
==Cancer Sub-Classification / Subtype==
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Put your text here
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Rare and Salivary Gland-type Tumours / Adenoid cystic carcinoma
    
==Definition / Description of Disease==
 
==Definition / Description of Disease==
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Put your text here
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Invasive carcinoma with a characteristic histologic pattern, comprised of epithelial and myoepithelial cells. Epithelial cells form glands with lumina containing mucoid material; associated stromal matrix is present, forming irregular spaces called pseudolumina. Subtypes include classic adenoid cystic carcinoma, solid-basaloid adenoid cystic carcinoma, and adenoid cystic carcinoma with high-grade transformation.
    
==Synonyms / Terminology==
 
==Synonyms / Terminology==
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Put your text here
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Cylindroma (Historical)
    
==Epidemiology / Prevalence==
 
==Epidemiology / Prevalence==
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Put your text here
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Rare; approximately 0.1% of all breast cancers
    
==Clinical Features==
 
==Clinical Features==
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  −
Put your text here and fill in the table
   
{| class="wikitable"
 
{| class="wikitable"
 
|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
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|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
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|Palpable breast mass, mainly in elderly patients
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Suspicious lesion on mammography
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EXAMPLE B-symptoms (weight loss, fever, night sweats)
  −
 
  −
EXAMPLE Fatigue
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  −
EXAMPLE Lymphadenopathy (uncommon)
   
|-
 
|-
 
|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
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|EXAMPLE Cytopenias
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|Not applicable
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EXAMPLE Lymphocytosis (low level)
   
|}
 
|}
    
==Sites of Involvement==
 
==Sites of Involvement==
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Put your text here
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Any quadrant of the breast; retroareolar most common
    
==Morphologic Features==
 
==Morphologic Features==
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Put your text here
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tubular, cribriform, and solid patterns
    
==Immunophenotype==
 
==Immunophenotype==
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Put your text here and fill in the table
      
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Finding!!Marker
 
!Finding!!Marker
 
|-
 
|-
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|Positive (universal)||EXAMPLE CD1
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|Positive (universal)||Epithelial cells: low molecular weight cytokeratins CK7 and CK8; EMA
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Myoepithelial cells: CK14, CK5/6, p63
 
|-
 
|-
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|Positive (subset)||EXAMPLE CD2
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|Positive (subset)||Epithelial cells: KIT (CD117)
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Myoepithelial cells: heavy-chain myosin, calponin, S100, CD10
 
|-
 
|-
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|Negative (universal)||EXAMPLE CD3
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|Negative (universal)||ER, PR, HER2, neuroendocrine markers (chromogranin, synaptophysin)
 
|-
 
|-
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|Negative (subset)||EXAMPLE CD4
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|Negative (subset)||
 
|}
 
|}
    
==Chromosomal Rearrangements (Gene Fusions)==
 
==Chromosomal Rearrangements (Gene Fusions)==
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  −
Put your text here and fill in the table
      
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
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|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
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|t(6;9)(q23.3;p23)||''MYB''::''NFIB''||der(6)||54%
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EXAMPLE 30% (add reference)
   
|Yes
 
|Yes
 
|No
 
|No
 
|Yes
 
|Yes
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|EXAMPLE
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|Most common fusion breakpoints involve exon 14 of MYB fused to exon 9 or exon 8c of NFIB
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The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
   
|}
 
|}
 
 
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!Notes
 
!Notes
 
|-
 
|-
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|EXAMPLE
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|6
−
 
+
|Gain
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7
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|chr6:135,502,453-135,540,311 [GRCh37/hg19]
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|EXAMPLE Loss
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|6q23.3
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|EXAMPLE
  −
 
  −
chr7:1- 159,335,973 [hg38]
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|EXAMPLE
  −
 
  −
chr7
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|Yes
   
|Yes
 
|Yes
 
|No
 
|No
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|EXAMPLE
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|No
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|MYB amplification
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Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
   
|-
 
|-
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|EXAMPLE
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|
−
 
+
|
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8
+
|
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|EXAMPLE Gain
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|
−
|EXAMPLE
+
|
−
 
+
|
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chr8:1-145,138,636 [hg38]
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|
−
|EXAMPLE
+
|
−
 
  −
chr8
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|No
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|No
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|No
  −
|EXAMPLE
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Common recurrent secondary finding for t(8;21) (add reference).
   
|}
 
|}
 
==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
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!Notes
 
!Notes
 
|-
 
|-
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|EXAMPLE
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|
−
 
+
|
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Co-deletion of 1p and 18q
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|
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|Yes
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|
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|No
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|
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|No
  −
|EXAMPLE:
  −
 
  −
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
   
|}
 
|}
 
==Gene Mutations (SNV/INDEL)==
 
==Gene Mutations (SNV/INDEL)==
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!Notes
 
!Notes
 
|-
 
|-
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|EXAMPLE: TP53; Variable LOF mutations
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|NOTCH1; inactivating sequence variants (missense, nonsense, truncating)
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|Loss of function
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EXAMPLE:
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|26%
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+
|
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EGFR; Exon 20 mutations
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|
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+
|
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EXAMPLE: BRAF; Activating mutations
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|
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|EXAMPLE: TSG
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|
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|EXAMPLE: 20% (COSMIC)
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|Mostly solid basaloid subtype<br />
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+
|-
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EXAMPLE: 30% (add Reference)
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|CREBBP; inactivating sequence variants (missense, nonsense, truncating)
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|EXAMPLE: IDH1 R123H
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|Loss of function
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|EXAMPLE: EGFR amplification
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|21%
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|
 +
|
 
|
 
|
 
|
 
|
 
|
 
|
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|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
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|Mostly solid basaloid subtype
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<br />
   
|}
 
|}
 
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.
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
 
|-
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|EXAMPLE: BRAF and MAP2K1; Activating mutations
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|MYB; gene fusion or amplification
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|EXAMPLE: MAPK signaling
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|Cell cycle, DNA replication, DNA repair
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|EXAMPLE: Increased cell growth and proliferation
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|Promotes cellular proliferation
 
|-
 
|-
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|EXAMPLE: CDKN2A; Inactivating mutations
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|
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|EXAMPLE: Cell cycle regulation
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|
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|EXAMPLE: Unregulated cell division
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|
 
|-
 
|-
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|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
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|
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|EXAMPLE:  Histone modification, chromatin remodeling
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|
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|EXAMPLE:  Abnormal gene expression program
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|
 
|}
 
|}
 
==Genetic Diagnostic Testing Methods==
 
==Genetic Diagnostic Testing Methods==
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Put your text here
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FISH for MYB rearrangement; RT-PCR for MYB-NFIB fusion transcript; RNA-based sequencing (whole transcriptome or targeted)
    
==Familial Forms==
 
==Familial Forms==
Retrieved from "https://content.ccga.io/index.php/Special:MobileDiff/12033"