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Direct evidence for concurrent morphological and genetic heterogeneity in an invasive ductal carcinoma of triple-negative phenotype
  1. Neill Patani,
  2. Violetta Barbashina,
  3. Maryou B K Lambros,
  4. Arnaud Gauthier,
  5. Marthe Mansour,
  6. Alan Mackay,
  7. Jorge S Reis-Filho
  1. The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK
  1. Correspondence to Neill Patani, The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, 237 Fulham Road, London SW3 6JB, UK; neill.patani{at}


Triple-negative breast cancers account for 12–17% of all invasive breast carcinomas and comprise a heterogeneous group of tumours, with varying histological features and clinical behaviours. Focal apocrine differentiation can be associated with a subset of these lesions. To establish whether morphological diversity is associated with divergent genetic aberrations the genomic profiles of microdissected, morphologically distinct components from an invasive ductal carcinoma of no special type with triple-negative phenotype and a region of apocrine differentiation were determined by high-resolution microarray-based comparative genomic hybridisation and validated by fluorescence in-situ hybridisation. Morphologically distinct components were found to harbour differing genetic aberrations, with the region of apocrine differentiation demonstrating genomic gains and losses on chromosome arms 9p and 9q, respectively, not present in non-apocrine areas. The results provide additional direct evidence of intra-tumour genetic heterogeneity in breast cancer and demonstrate that morphologically distinct regions can be associated with distinct genetic aberrations.

  • Breast cancer
  • breast pathology
  • cancer
  • cancer genetics
  • cancer research
  • carcinoma
  • comparative genomic hybridisation
  • genetics
  • immunohistochemistry
  • intra-tumour heterogeneity
  • molecular biology
  • molecular genetics
  • molecular pathology

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  • The first two authors contributed equally to this study.

  • Funding This study was funded by Breakthrough Breast Cancer. VB, AM, MBKL, AG and JSR-F are funded by Breakthrough Breast Cancer. NP is supported in part by a Royal College of Surgeons of England clinical research training fellowship. JSR-F is the recipient of the 2010 CRUK Future Leaders Prize. The study sponsors had no involvement in the study design, the collection, analysis and interpretation of data, writing of the report or the decision to submit for publication.

  • Competing interests None.

  • Provenance peer review Not commissioned; externally peer reviewed.