Analysis of numerical aberrations of specific chromosomes by fluorescent in situ hybridization as a diagnostic tool in breast cancer.

Abstract

Biopsy by fine-needle, aspiration has become a routine technique for the diagnosis of a dominant breast mass. In this study, fluorescent in situ, hybridization (FISH) analysis of interphase nuclei allowed the authors to detect genetic aberrations that are difficult to identify by conventional cytology. To investigate ways of minimizing misdiagnosis of the cytology of breast tumors, and detecting genetic aberrations preoperatively, the authors performed FISH with specimens obtained by fine-needle aspiration biopsies of 106 primary breast tumors (78 primary breast cancers, 2 phyllodes tumors, and 26 benign breast tumors). Numerical chromosome aberrations were investigated using 3-color FISH performed with (peri)centromere-specific probes for chromosomes 1, 11, and 17. Sufficient materials for FISH analysis were obtained with aspiration biopsy from 98 of the 106 breast tumors (93.4%). None of the benign tumors nor phyllodes tumors showed evidence of aneusomy for any of the 3 chromosomes. However, 71 of the 74 breast cancers (95.9%) for which sufficient material was available demonstrated aneusomy of at least 1 of the 3 chromosomes tested. The FISH analysis also suggested a possible correlation between aneusomy of chromosome 17 and metastasis to regional lymph nodes (chi-square test = 7.78; P < 0.05). FISH analysis of fine-needle aspiration biopsies can be a practical and useful method for the preoperative diagnosis of breast carcinoma.