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Genetics and genomics of breast fibroadenomas.
- Source :
-
Journal of clinical pathology [J Clin Pathol] 2018 May; Vol. 71 (5), pp. 381-387. Date of Electronic Publication: 2017 Dec 16. - Publication Year :
- 2018
-
Abstract
- Fibroadenomas of the breast are benign fibroepithelial tumours most frequently encountered in women of reproductive age, although they may be diagnosed at any age. The fibroadenoma comprises a proliferation of both stromal and epithelial components. The mechanisms underlying fibroadenoma pathogenesis remain incompletely understood. In the clinical setting, distinguishing cellular fibroadenomas from benign phyllodes tumours is a common diagnostic challenge due to subjective histopathological criteria and interobserver differences. Recent sequencing studies have demonstrated the presence of highly recurrent mutations in fibroadenomas, and also delineated the genomic landscapes of fibroadenomas and the closely related phyllodes tumours, revealing differences at the gene level, which may be of potential adjunctive diagnostic use. The present article provides an overview of key studies uncovering genetic and genomic abnormalities in fibroadenomas, from initial karyotype reports revealing myriad cytogenetic aberrations to next-generation sequencing-based approaches that led to the discovery of highly recurrent MED12 mutations. A thorough understanding of these abnormalities is important to further elucidate the mechanisms by which fibroadenomas arise and to refine diagnostic assessment of this very common tumour.<br />Competing Interests: Competing interests: None declared.<br /> (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
- Subjects :
- Biomarkers, Tumor metabolism
Breast Neoplasms metabolism
Breast Neoplasms pathology
DNA Mutational Analysis
Female
Fibroadenoma metabolism
Fibroadenoma pathology
Genes, ras
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Karyotyping
Loss of Heterozygosity
Mediator Complex genetics
Microsatellite Instability
Mutation
Neoplasms, Hormone-Dependent metabolism
Neoplasms, Hormone-Dependent pathology
Phenotype
Polymorphism, Single Nucleotide
Predictive Value of Tests
Prognosis
Risk Factors
Tumor Suppressor Protein p53 genetics
Biomarkers, Tumor genetics
Breast Neoplasms genetics
Fibroadenoma genetics
Genomics methods
Neoplasms, Hormone-Dependent genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1472-4146
- Volume :
- 71
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of clinical pathology
- Publication Type :
- Academic Journal
- Accession number :
- 29248888
- Full Text :
- https://doi.org/10.1136/jclinpath-2017-204838