c-erbB2/neu gene and chromosome 17 analysis in breast cancer by FISH on archival cytological fine-needle aspirates

The detection of specific genetic alterations in breast cancer is useful fo r diagnosing, predicting prognosis and planning preoperative treatment. c-e rbB2/neu overexpression is usually detected by immunocytochemistry (ICC), a lthough this technique is neither completely reproducible nor highly reliab le, owing to specimen and methodologic variability and antibody sensitivity . Here, we combine two well-established techniques, fine-needle aspiration (FNA) and fluorescence in situ hybridization (FISH), to detect c-erbB2/neu amplification in patients candidate to primary chemotherapy and, in part, p reviously analysed for c-erbB2/neu overexpression. Sixty smears from FNA we re used to simultaneously detect c-erbB2/neu and chromosome 17 centromere. FISH was successful in 58 cases and detected 24 amplified cases, three of w hich were negative by immunophenotyping, 28 negative cases, with evidence o f two normal c-erbB2/neul signals, two cases with deletion of c-erbB2/neu, and four cases with polysomy, thus providing more reliable and informative results than ICC. This study underlines the advantages offered by the FNA a nd FISH combination which are two rapid, reliable, simple and informative t echniques, to analyse one of the most important genetic markers for predict ing prognosis and chemotherapy planning for breast carcinoma in particular in the light of the recently proposed trials of primary chemotherapy.