Detection of circulating tumour cells in patients with breast or ovarian cancer by molecular cytogenetics

Detection of micrometastases in patients with solid tumours may aid the est ablishment of prognosis and development of new therapeutic approaches. This study was designed to investigate the presence and frequency of tumour cel ls in the peripheral blood (PB) of patients with breast or ovarian cancer b y using a combination of magnetic activated cell sorting (MACS) and fluores cence in situ hybridization (FISH). Separated tumour cell and PB-samples fr om 48 patients (35 breast cancers, 12 ovarian tumours, one uterine sarcoma) were analysed for the presence of numerical aberrations of chromosomes 7, 12, 17 and 17 q11.2-q12. Twenty-five patients had primary disease and 23 ha d relapsed. The technique allows the detection of one tumour cell in 10(6) normal cells. Circulating tumour cells were detected in 35/48 cases (17 pat ients had relapsed and 13 primary carcinoma with lymph node or solid metast ases) by the expression of anti-cytokeratin and the presence of numerical c hromosomal abnormalities. PB-tumour cells of patients with a primary carcin oma and without solid metastases had a significantly lower percentage of ch romosomal aberrations, especially for chromosome 12 (P = 0.035; P = 0.038) compared to those with relapsed disease and solid metastases. Detection and quantification of minimal residual disease may monitor the response to cyt otoxic or hormonal therapy and may identify women at risk of relapse. (C) 1 999 Cancer Research Campaign.