Journal article

Phenotypic and molecular dissection of metaplastic breast cancer and the prognostic implications

Amy Ellen McCart Reed, Emarene Kalaw, Katia Nones, Mark Bettington, Malcolm Lim, James Bennett, Kate Johnstone, Jamie Rose Kutasovic, Jodi Marie Saunus, Stephen Kazakoff, Qinying Xu, Scott Wood, Oliver Holmes, Conrad Leonard, Lynne Estelle Reid, Debra Black, Colleen Niland, Kaltin Ferguson, Irma Gresshoff, Ashwini Raghavendra Show all



Metaplastic breast carcinoma (MBC) is relatively rare but accounts for a significant proportion of global breast cancer mortality. This group is extremely heterogeneous and by definition exhibits metaplastic change to squamous and/or mesenchymal elements, including spindle, squamous, chondroid, osseous, and rhabdomyoid features. Clinically, patients are more likely to present with large primary tumours (higher stage), distant metastases, and overall, have shorter 5-year survival compared to invasive carcinomas of no special type. The current World Health Organisation (WHO) diagnostic classification for this cancer type is based purely on morphology - the biological basis and clinical relevan..

View full abstract


Awarded by National Breast Cancer Foundation

Awarded by Cancer Australia/National Breast Cancer Foundation PdCCRS grant

Funding Acknowledgements

We thank the patients and their families, and acknowledge the support of Metro North Hospital and Health Services in the collection of the clinical subject data and clinical subject materials. We thank Angelika Christ, Tim Bruxner, and the team at the Queensland Centre for Medical Genomics for their technical expertise. We would like to thank the Genome Aggregation Database (gnomAD) and the groups that provided exome and genome variant data to this resource. KN is the recipient of a Keith Boden Fellowship. SO'T is funded by the National Breast Cancer Foundation (PRAC-16-006) and the Sydney Breast Cancer Foundation. NW is an NHMRC Senior Research Fellow. Pathology Queensland - Study Education and Research Committee supported the study. The study was funded by a Cancer Australia/National Breast Cancer Foundation PdCCRS grant (APP017931).