Phyllodes tumors of the breast analyzed by comparative genomic hybridization and association of increased 1q copy number with stromal overgrowth and recurrence.

Phyllodes tumors are rare neoplasms of the breast. Although they contain both epithelial and stromal components they are considered to be stromally derived lesions. The chromosomal copy number changes were determined in 19 well characterized samples from 18 patients using comparative genomic hybridization. Most chromosomes were involved and generally the gains and losses were similar to those found in breast cancer with the exception that the phyllodes tumors showed no evidence of genomic amplification. The one recurrent sample analyzed had the same imbalances as the original tumor. Frequent changes were gain of 1q (7/18) and loss of 3p (6/18), followed by gain of 7q (4/18) and loss of 6q (4/18) and 3q (3/18). Gain of 1q material was significantly associated with histologically defined stromal overgrowth (P = 0.011). In addition, all the cases with gain of 1q material, without 1p gain, had a clinical history of recurrence. Only one case without 1q gain had a recurrence and this had loss of the X chromosome as the sole abnormality. Increased copy number of 1q material in the phyllodes tumors studied, in one case restricted to 1q24-32, was associated with recurrence (P = 0.00365) and might therefore be considered as an indicator of local aggressiveness requiring more radical treatment.