BRST5:Adenoid cystic carcinoma

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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

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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

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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)

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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

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Genes and Main Pathways Involved

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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

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Additional Information

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Links

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References

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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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