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Molecular alterations in metaplastic breast carcinoma
  1. Caroline Louise Cooper1,2,
  2. Rooshdiya Z Karim1,2,
  3. Christina Selinger1,
  4. Hugh Carmalt2,3,
  5. C Soon Lee1,2,4,5,6,
  6. Sandra A O'Toole1,2,7,8,9
  1. 1Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
  2. 2Sydney Medical School, University of Sydney, New South Wales, Australia
  3. 3Department of Breast Surgery, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
  4. 4Department of Pathology, School of Medicine, University of Western Sydney, Liverpool, New South Wales, Australia
  5. 5Cancer Pathology and Cell Biology Laboratory, Ingham Institute for Applied Medical Research, Australia
  6. 6South West Sydney Clinical School, University of New South Wales, Australia
  7. 7Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
  8. 8Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
  9. 9St Vincent's Medical School, University of New South Wales, Australia
  1. Correspondence to Dr Caroline Louise Cooper, Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Missenden Road, Camperdown, NSW 2050, Australia; caroline.cooper{at}sswahs.nsw.gov.au

Abstract

Metaplastic carcinoma of the breast is a rare and heterogeneous subtype of breast carcinoma with a generally poor outcome, and few therapeutic options once disease recurs or progresses. Metaplastic carcinomas of the breast are usually of a larger size at diagnosis, with less frequent nodal metastasis compared with invasive ductal carcinoma no special type, and lack hormone and HER2 receptor expression. Recent research has revealed some potentially actionable genetic changes in a subset of these rare tumours. However, ongoing efforts to further characterise the genetic basis and the molecular alterations underlying the distinctive morphological and clinical characteristics of these tumours are needed in order to identify new targets for treatment. This review will describe the theories of pathogenesis of metaplastic breast carcinoma, and highlight genetic changes and potential therapeutic targets in this generally poor prognosis malignancy.

  • Breast
  • Breast Cancer
  • Breast Pathology
  • Molecular Pathology

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