Analysis of genetic alterations in primary nasopharyngeal carcinoma by comparative genomic hybridization

To identify genetic alterations associated with the development. and progre ssion of human nasopharyngeal carcinoma (NPC), 57 tumors were analyzed by c omparative genomic hybridization (CGH). In 47 cases, chromosomal imbalances were found. Several recurrent chromosomal abnormalities were identified in the present study. The most frequently detected chromosomal gains involved chromosome arms 12q (24 cases, 51%), 4q (17 cases, 36%), 3q (16 cases, 34% ), 1q (15 cases, 32%), and 18q (15 cases, 32%). Common regions of gain invo lved 12q13-q15, 4q12-q21, and 3q21-q26. High-copy-number increases of chrom osomal materials were detected in four chromosomal regions, 3q21-q26.2, 4p1 2-q21, 8p, and 12q14-q15. The most frequently detected loss of chromosomal materials involved chromosome arms 16q (26 cases, 55%), 14q (21 cases, 45%) , 1p (20 cases, 43%), 3p (20 cases, 43%), 16p (19 cases. 40%), 1 Iq (17 cas es, 36%), and 19p (16 cases, 34%). The most common regions of loss involved 14q24-qter, 1 pter-p36.1, 3p22-p21.3, 11q21-qter, and the distal region of 19p. Genomic alterations detected by CGH were compared and found to be lar gely consistent with those identified in banding analysis and loss of heter ozygosity studies. However, several previously unrecognized recurrent alter ations were also identified in the present study, including gain of 4q and 18q, and loss of 16q, 14q, and 19p. In addition, gain of 1q, 8q, 18q, and l oss of 9q showed a statistically significant association with advanced clin ical stages (P < 0.05). Identification of recurrent sites of chromosomal ga in and loss identify regions of the genome that may contain oncogenes or tu mor suppressor genes, respectively, which may be involved in the tumorigene sis of NPC. Published 2001 Wiley-Liss, Inc(<dagger>).