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Recent insights into the molecular pathogenesis of mammary phyllodes tumours
  1. Rooshdiya Z Karim1,2,
  2. Sandra A O'Toole1,2,3,4,5,
  3. Richard A Scolyer1,2,
  4. Caroline Louise Cooper1,2,
  5. Belinda Chan6,
  6. Christina Selinger1,
  7. Bing Yu2,4,
  8. Hugh Carmalt2,6,
  9. Cindy Mak6,
  10. Gary M Tse7,
  11. Puay Hoon Tan8,
  12. Thomas C Putti9,10,
  13. Cheok Soon Lee1,2,11,12,13,14,15
  1. 1Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
  2. 2Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
  3. 3Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
  4. 4Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
  5. 5Faculty of Medicine, University of NSW, Australia
  6. 6Department of Breast Surgery, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
  7. 7Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, Hong Kong, Hong Kong
  8. 8Department of Pathology, Singapore General Hospital, Singapore, Singapore
  9. 9Department of Pathology, National Health System, Singapore, Singapore
  10. 10Yong Loo Lin School of Medicine, University of Singapore, Singapore, Singapore
  11. 11Department of Pathology, School of Medicine, University of Western Sydney, Sydney, New South Wales, Australia
  12. 12Cancer Pathology and Cell Biology Laboratory, Ingham Institute for Applied Medical Research
  13. 13Department of Anatomical Pathology, Liverpool Hospital
  14. 14Cancer Pathology, Bosch Institute, University of Sydney
  15. 15South Western Sydney Clinical School, Faculty of Medicine, University of New South Wales
  1. Correspondence to Dr Rooshdiya Z Karim, Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Building 94, Missenden Rd, Camperdown, Sydney, NSW 2046, Australia;  rooshdiya{at}


Phyllodes tumours (PTs) of the breast are true biphasic neoplasms within which interactions between the epithelium and stroma are critical for tumour development and progression. Despite numerous studies reporting the results of ancillary marker investigations in PTs, the current histological grading systems remain unreliable at predicting clinical outcome even when supplemented by these markers. As a consequence, there has been much interest in the prospect of using molecular/genetic techniques to develop a more robust “grading” system. This review focuses on recent cytogenetic and molecular studies investigating the pathogenesis of PTs and those correlating molecular findings with clinicopathological features of the tumours. Recent data highlight that intratumoural genetic heterogeneity is common in PTs and may account for the reported lack of correlation between histological grading and clinical behaviour. The entire spectrum of molecular aberrations in PTs are yet to be fully defined, however recent array-based studies using comparative genomic hybridisation have reported that copy number changes increase with the progression from benign PT to malignancy. Tumour recurrence and progression is likely to reflect the presence of under-recognised subclones. p16INK4a (CDKN2A) inactivation also appears to be important in PT pathogenesis. Further additional studies will be required to identify and validate new prognostic markers and therapeutic targets in order to improve the diagnosis, classification, prediction of outcome and management of patients with this rare neoplasm. Data generated from modern sequencing technologies are likely to provide new insights into the disease and assist in this endeavour.

  • Breast Pathology
  • Breast
  • Molecular Biology

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