Difference between revisions of "BRST5:Adenoid cystic carcinoma"

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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==
  
−
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
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|Not applicable
−
 
 
−
EXAMPLE Lymphocytosis (low level)
 
 
|}
 
|}
  
 
==Sites of Involvement==
 
==Sites of Involvement==
  
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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
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|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
 
|-
 
|-
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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
−
|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
 
|-
 
|-
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|EXAMPLE
+
|6
−
 
+
|Gain
−
7
+
|chr6:135,502,453-135,540,311 [GRCh37/hg19]
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|EXAMPLE Loss
+
|6q23.3
−
|EXAMPLE
 
−
 
 
−
chr7:1- 159,335,973 [hg38]
 
−
|EXAMPLE
 
−
 
 
−
chr7
 
−
|Yes
 
 
|Yes
 
|Yes
 
|No
 
|No
−
|EXAMPLE
+
|No
−
 
+
|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).
 
 
|-
 
|-
−
|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
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EXAMPLE:
+
|26%
−
 
+
|
−
EGFR; Exon 20 mutations
+
|
−
 
+
|
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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)
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|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==

Revision as of 11:19, 26 October 2023

Primary Author(s)*

Katherine Geiersbach, MD, Mayo Clinic, and Jun Liao, PhD, Columbia University Irving Medical Center

Cancer Category/Type

Breast Cancer / Epithelial Tumours of the Breast

Cancer Sub-Classification / Subtype

Rare and Salivary Gland-type Tumours / Adenoid cystic carcinoma

Definition / Description of Disease

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

Cylindroma (Historical)

Epidemiology / Prevalence

Rare; approximately 0.1% of all breast cancers

Clinical Features

Signs and Symptoms Palpable breast mass, mainly in elderly patients

Suspicious lesion on mammography

Laboratory Findings Not applicable

Sites of Involvement

Any quadrant of the breast; retroareolar most common

Morphologic Features

tubular, cribriform, and solid patterns

Immunophenotype

Finding Marker
Positive (universal) Epithelial cells: low molecular weight cytokeratins CK7 and CK8; EMA

Myoepithelial cells: CK14, CK5/6, p63

Positive (subset) Epithelial cells: KIT (CD117)

Myoepithelial cells: heavy-chain myosin, calponin, S100, CD10

Negative (universal) ER, PR, HER2, neuroendocrine markers (chromogranin, synaptophysin)
Negative (subset)

Chromosomal Rearrangements (Gene Fusions)

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
t(6;9)(q23.3;p23) MYB::NFIB der(6) 54% Yes No Yes Most common fusion breakpoints involve exon 14 of MYB fused to exon 9 or exon 8c of NFIB

Individual Region Genomic Gain/Loss/LOH

Put your text here and fill in the table

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
6 Gain chr6:135,502,453-135,540,311 [GRCh37/hg19] 6q23.3 Yes No No MYB amplification

Characteristic Chromosomal Patterns

Put your text here

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes

Gene Mutations (SNV/INDEL)

Put your text here and fill in the table

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
NOTCH1; inactivating sequence variants (missense, nonsense, truncating) Loss of function 26% Mostly solid basaloid subtype
CREBBP; inactivating sequence variants (missense, nonsense, truncating) Loss of function 21% Mostly solid basaloid subtype

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.

Epigenomic Alterations

Put your text here

Genes and Main Pathways Involved

Put your text here and fill in the table

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
MYB; gene fusion or amplification Cell cycle, DNA replication, DNA repair Promotes cellular proliferation

Genetic Diagnostic Testing Methods

FISH for MYB rearrangement; RT-PCR for MYB-NFIB fusion transcript; RNA-based sequencing (whole transcriptome or targeted)

Familial Forms

Put your text here

Additional Information

Put your text here

Links

Put your text placeholder here (use "Link" icon at top of page)

References

(use "Cite" icon at top of page)

EXAMPLE Book

  1. Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.

Notes

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