Detection and molecular characterization of circulating tumour cells in peripheral blood of patients with breast cancer


Breast cancer is the most common type of cancer in women in the western world. Approximately one out of ten women will develop breast cancer during her life time. Despite optimal staging and treatment, up to 40% of patients with apparently localized breast cancer will develop metastatic disease over time. These patients are believed to have micrometastases in bone marrow or peripheral tissues at the time of diagnosis. Preclinical research has shown that cancer cells first appear into the bloodstream before distant metastases occur.
The detection of minimal disease in blood or bone marrow of patients with cancer however, is hampered by a lack of sensitivity and accuracy of the currently available tests. The availability of a real-time quantitative reverse transcriptase polymerase chain reaction (RT-PCR) and the possibility to measure the expression of multiple genes simultaneously has initiated some change in this area. In previous research we showed that RT-PCR for CK19/MAM is prognostically superior compared to immunocytochemistry for the detection of disseminated tumour cells (DTCs) in bone marrow and to the FDA approved CellSearchTM System (Veridex, Warren, NY) for the detection of circulating tumour cells (CTCs) in peripheral blood.
Through the molecular characterization of CTCs in patients with metastatic breast cancer, this project aims to identify a set of markers that can be used to further enhance the sensitivity of the currently available RT-PCR test. By comparison of the gene expression profile of blood samples enriched for CTCs and the residual CTC-depleted blood samples, a CTC-specific genome-wide gene expression profile will be generated. This must lead to the identification of a list of genes specifically expressed in CTCs of breast cancer patients. Cross validation of these discriminatory genes will be done on the primary tumour. Using discriminant analysis with the expression profile of healthy volunteers, an optimalization of ànd the amount of markers and the expression level will be determined to achieve a zero misclassification of healthy volunteers (sensitivity 100%) and an as correct possible classification of patients with breast cancer.


Relevant publications:
• Benoy IH, Elst H, Van Dam P, Scharpe S, Van Marck E, Vermeulen PB, Dirix LY. Detection of circulating tumour cells in blood by quantitative real-time RT-PCR: effect of pre-analytical time. Clin Chem Lab Med. 2006;44(9):1082-7.
• Benoy IH, Elst H, Philips M, Wuyts H, Van Dam P, Scharpe S, Van Marck E, Vermeulen PB, Dirix LY. Prognostic significance of disseminated tumor cells as detected by quantitative real-time reverse-transcriptase polymerase chain reaction in patients with breast cancer. Clin Breast Cancer. 2006 Jun;7(2):146-52.
• Benoy IH, Elst H, Philips M, Wuyts H, Van Dam P, Scharpe S, Van Marck E,Vermeulen PB, Dirix LY. Real-time RT-PCR detection of disseminated tumour cells in bone marrow has superior prognostic significance in comparison with circulating tumour cells in patients with breast cancer. Br J Cancer. 2006 Mar 13;94(5):672-680.
• Benoy I, Salgado R, Elst H, Van Dam P, Weyler J, Van Marck E, Scharpe S, Vermeulen P and Dirix L. Relative microvessel area of the primary tumour, and not lymph node status, predicts the presence of bone marrow micrometastases detected by reverse transcriptase polymerase chain reaction in patients with clinically non-metastatic breast cancer. Breast Cancer Res. Treat. 2005;7(2):R210-9. Epub 2005 Jan 10.