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Genetics and genomics of breast fibroadenomas
  1. Benjamin Nathanael Loke1,2,
  2. Nur Diyana Md Nasir2,
  3. Aye Aye Thike2,3,
  4. Jonathan Yu Han Lee4,
  5. Cheok Soon Lee5,6,7,8,9,
  6. Bin Tean Teh3,10,11,12,
  7. Puay Hoon Tan2,3,13
  1. 1 Department of Biological Sciences, National University of Singapore, Singapore
  2. 2 Department of Anatomical Pathology, Singapore General Hospital, Singapore
  3. 3 Duke–NUS Medical School, Singapore
  4. 4 School of Science and Health, Western Sydney University, Sydney, New South Wales, Australia
  5. 5 Discipline of Pathology, School of Medicine, Western Sydney University, Sydney, New South Wales, Australia
  6. 6 Department of Anatomical Pathology, Liverpool Hospital, Liverpool, New South Wales, Australia
  7. 7 South Western Sydney Clinical School, University of New South Wales, Sydney, New South Wales, Australia
  8. 8 Department of Tissue Pathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  9. 9 Cancer Pathology Laboratory, Bosch Institute, University of Sydney, Sydney, New South Wales, Australia
  10. 10 Laboratory of Cancer Epigenome, National Cancer Centre Singapore, Singapore
  11. 11 Cancer Science Institute of Singapore, National University of Singapore, Singapore
  12. 12 Institute of Molecular and Cell Biology, Singapore
  13. 13 Division of Pathology, Singapore General Hospital, Singapore
  1. Correspondence to Dr Puay Hoon Tan, Division of Pathology, Singapore General Hospital, Singapore; tan.puay.hoon{at}


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.

  • cancer
  • genetics
  • breast pathology
  • molecular pathology

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  • Handling editor Runjan Chetty.

  • Contributors BNL performed the literature review and wrote the review paper. NDMN took the photographs of the fibroadenoma cases harbouring MED12 mutations. AAT, JYHL, CSL and BTT edited the manuscript. PHT coordinated the above and edited the manuscript.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.