• Research team from SingHealth Duke-NUS Academic Medical Centre found genes responsible for phyllodes tumours - a type of breast tumour that can be benign or cancerous
  • The finding helps distinguish different breast tumours and whether are cancerous or not
  • Opens possibility for more accurate diagnosis and therapies for treatment or prevention of recurrence
Fibroepithelial breast tumours are a distinct tumour group which includes two types of tumours: the common, benign fibroadenoma and the rarer phyllodes tumours which can turn malignant. About 10% of women have fibroadenomas.
Thousands of women in Singapore and millions worldwide, most of them young, are estimated to be diagnosed with fibroadenomas annually.
In diagnosing breast tumours, clinicians face challenges such as distinguishing fibroadenomas from phyllodes tumours, which have similar clinical presentations. The tumours can also progress from benign to malignant forms, or recur after surgical removal.
Last year, the team from NCCS, SGH and Duke-NUS led by Professors Teh Bin Tean, Tan Puay Hoon, Patrick Tan and Steve Rozen made a landmark discovery of the genetic cause of fibroadenomas. Their identification of the novel MED12 gene mutation in the majority of fibroadenomas attracted worldwide interest.
Recently, the team progressed to identify the panel of genes responsible for the formation and progression of phyllodes tumours. The study’s findings were once again published in the prestigious journal Nature Genetics.
Phyllodes tumours have both benign and cancerous forms. Malignant phyllodes tumours comprise about two per cent of breast cancers in Singapore.
“Breast cancer is the leading cancer affecting women in Singapore. With our findings, we can learn more about how fibroepithelial breast tumours are formed, how they may progress into cancer, and how to manage them,” said Professor Teh Bin Tean, Deputy Director (Research), NCCS, a co-principal investigator (PI) of the study.
The team studied 100 fibroepithelial tumours using advanced gene sequencing technologies.
Professor Tan Puay Hoon, Head and Senior Consultant, Department of Pathology, SGH and co-PI of the study, explained, “The discovery of their causative genes brings hope that we can eventually test for the presence of culprit genes to identify these breast tumour types accurately. Patients can then receive appropriate clinical intervention in a timely manner.”
“If gene mutations in a patient’s breast tumour suggest it may progress from a benign to cancerous form, doctors can then advise patients to have it completely surgically removed to prevent cancer occurrence,” added Professor Steve Rozen from Duke-NUS’ Cancer and Stem Cell Biology Programme and co-PI of the study.
The findings also provide candidate therapeutic targets for fibroepithelial tumours, paving the way for alternative treatment options. Currently, surgery is the only effective therapy for phyllodes tumours.
“Besides surgery, drugs targeting the tumours’ gene pathway could help to treat them or prevent recurrence which is not uncommon among patients with these tumours,” said Prof Patrick Tan from Duke-NUS’ Cancer and Stem Cell Biology Programme and co-PI of the study.
The team is now validating the results in a larger cohort of 1,500 patients to translate these findings into clinical applications.
Read the findings on Nature Genetics.
Professors Teh Bin Tean, Patrick Tan and Steve Rozen were recently conferred the 2015 President’s Science Award (PSA) for their outstanding translational research work in Asian cancer genomics.