RECURRENT CYTOGENETIC ABNORMALITIES IN SQUAMOUS-CELL CARCINOMAS OF THE HEAD AND NECK REGION

We characterized the breakpoints, gains, and losses of chromosome mate rial in squamous cell carcinomas of the head and neck region from 29 p atients. Cell lines were karyotyped in 1/3 of cases, direct preparatio ns or early in vitro harvests in 1/3, and both in 1/3 of cases. GTG-ba nding was employed in all cases, as were C-banding and RBG- and AgNOR- staining in most. Some tumors were near-diploid and others near-tetrap loid, but many had mixed populations, with diploid, tetraploid, and oc toploid subclones representing essentially the same karyotypic pattern . The most frequent changes were deletions. Losses affecting 3p13-p24, 5q12-q23, 8p22-p23, 9p21-p24, and 18q22-q23 ranged in frequency from 40% to 60% of tumors. Loss of the short arm of the inactive X occurred in 70% of tumors from female patients, and loss or rearrangement of t he Y occurred in 74% of tumors from male patients. Loss of 18q appeare d to be associated with short survival, as did the presence of multipl e deletions. There was gain (2-5 extra copies) of 3q21 -qter, 5p, 7p, 8q, and 11q13-q23 in 28-38% of tumors. Three tumors had an hsr involvi ng 11q13-q21. Gain of material at 11q13 is postulated to be associated with amplification of the PRADI/CCND gene at that locus. A translocat ion between proximal Ip and either an acrocentric short arm or proxima l 8p or 9p was observed in squamous cell carcinomas of the head and ne ck region but not in female genital tract tumors. No other abnormaliti es appeared to be site specific, suggesting a pattern of genetic evolu tion in squamous cell carcinoma that is independent of anatomic site. (C) 1994 Wiley-Liss, Inc.