Chromosome 7 aneusomy in metaplastic breast carcinomas with chondroid, squamous, and spindle-cell differentiation

Metaplastic breast carcinomas (MBCs) are basal-like tumors that frequently express epidermal growth factor receptor (EGFR) via an unknown underlying genetic mechanism. In this study, the EGFR/CEP7 gene copy number in 17 MBCs with chondroid, squamous, and spindle-cell differentiation showing EGFR expression by immunohistochemistry was analyzed using fluorescence in situ hybridization. All cases had a balanced EGFR/CEP7 ratio. EGFR gene amplification was not observed in any case. Monosomy was found in 25% and polysomy in 12.5% of carcinomas with chondroid differentiation. All spindle-cell carcinomas and 50% of squamous carcinomas showed trisomy. Comparison with CEP7 copy number revealed aneusomy of chromosome 7, as opposed to increases or decreases specific to the EGFR gene or 7p. Although no direct correlation between EGFR expression by immunohistochemistry and aneusomy was observed, cases with a score of 3+ showed a higher frequency of EGFR gene copy gain. In the absence of EGFR amplification, chromosome 7 aneusomy might be a useful criterion for the determination of potential candidates for EGFR tyrosine kinase inhibitor clinical trials.