Compendium of Cancer Genome Aberrations

BRST5:Adenoid cystic carcinoma: Difference between revisions

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==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==


Put your text here
Rare and Salivary Gland-type Tumours / Adenoid cystic carcinoma


==Definition / Description of Disease==
==Definition / Description of Disease==


Put your text here
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==


Put your text here
Cylindroma (Historical)


==Epidemiology / Prevalence==
==Epidemiology / Prevalence==


Put your text here
Rare; approximately 0.1% of all breast cancers


==Clinical Features==
==Clinical Features==
Put your text here and fill in the table
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|'''Signs and Symptoms'''
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
|Palpable breast mass, mainly in elderly patients
 
Suspicious lesion on mammography
EXAMPLE B-symptoms (weight loss, fever, night sweats)
 
EXAMPLE Fatigue
 
EXAMPLE Lymphadenopathy (uncommon)
|-
|-
|'''Laboratory Findings'''
|'''Laboratory Findings'''
|EXAMPLE Cytopenias
|Not applicable
 
EXAMPLE Lymphocytosis (low level)
|}
|}


==Sites of Involvement==
==Sites of Involvement==


Put your text here
Any quadrant of the breast; retroareolar most common


==Morphologic Features==
==Morphologic Features==


Put your text here
tubular, cribriform, and solid patterns


==Immunophenotype==
==Immunophenotype==
Put your text here and fill in the table


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||EXAMPLE CD1
|Positive (universal)||Epithelial cells: low molecular weight cytokeratins CK7 and CK8; EMA
Myoepithelial cells: CK14, CK5/6, p63
|-
|-
|Positive (subset)||EXAMPLE CD2
|Positive (subset)||Epithelial cells: KIT (CD117)
Myoepithelial cells: heavy-chain myosin, calponin, S100, CD10
|-
|-
|Negative (universal)||EXAMPLE CD3
|Negative (universal)||ER, PR, HER2, neuroendocrine markers (chromogranin, synaptophysin)
|-
|-
|Negative (subset)||EXAMPLE CD4
|Negative (subset)||
|}
|}


==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions)==
Put your text here and fill in the table


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
|t(6;9)(q23.3;p23)||''MYB''::''NFIB''||der(6)||54%
EXAMPLE 30% (add reference)
|Yes
|Yes
|No
|No
|Yes
|Yes
|EXAMPLE
|Most common fusion breakpoints involve exon 14 of MYB fused to exon 9 or exon 8c of NFIB
 
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
|-
|-
|EXAMPLE
|6
 
|Gain
7
|chr6:135,502,453-135,540,311 [GRCh37/hg19]
|EXAMPLE Loss
|6q23.3
|EXAMPLE
 
chr7:1- 159,335,973 [hg38]
|EXAMPLE
 
chr7
|Yes
|Yes
|Yes
|No
|No
|EXAMPLE
|No
 
|MYB amplification
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).
|-
|-
|EXAMPLE
|
 
|
8
|
|EXAMPLE Gain
|
|EXAMPLE
|
 
|
chr8:1-145,138,636 [hg38]
|
|EXAMPLE
|
 
chr8
|No
|No
|No
|EXAMPLE
 
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==
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!Notes
!Notes
|-
|-
|EXAMPLE
|
 
|
Co-deletion of 1p and 18q
|
|Yes
|
|No
|
|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
|-
|-
|EXAMPLE: TP53; Variable LOF mutations
|NOTCH1; inactivating sequence variants (missense, nonsense, truncating)
 
|Loss of function
EXAMPLE:
|26%
 
|
EGFR; Exon 20 mutations
|
 
|
EXAMPLE: BRAF; Activating mutations
|
|EXAMPLE: TSG
|
|EXAMPLE: 20% (COSMIC)
|Mostly solid basaloid subtype<br />
 
|-
EXAMPLE: 30% (add Reference)
|CREBBP; inactivating sequence variants (missense, nonsense, truncating)
|EXAMPLE: IDH1 R123H
|Loss of function
|EXAMPLE: EGFR amplification
|21%
|
|
|
|
|
|
|
|
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
|Mostly solid basaloid subtype
<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
|-
|-
|EXAMPLE: BRAF and MAP2K1; Activating mutations
|MYB; gene fusion or amplification
|EXAMPLE: MAPK signaling
|Cell cycle, DNA replication, DNA repair
|EXAMPLE: Increased cell growth and proliferation
|Promotes cellular proliferation
|-
|-
|EXAMPLE: CDKN2A; Inactivating mutations
|
|EXAMPLE: Cell cycle regulation
|
|EXAMPLE: Unregulated cell division
|
|-
|-
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
|
|EXAMPLE:  Histone modification, chromatin remodeling
|
|EXAMPLE:  Abnormal gene expression program
|
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==


Put your text here
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://test.ccga.io/index.php/BRST5:Adenoid_cystic_carcinoma"