Methylation, a major mechanism of p16/CDKN2 gene inactivation in head and neck squamous carcinoma.

摘要: We studied 11 head and neck squamous carcinoma (HNSC) cell lines 46 primary tumors for p16 gene status by protein, mRNA, DNA genetic/epigenetic analyses to determine the incidence, mechanism(s), potential biological significance of its inactivation. Of lines, only 1 showed intact 10 lacked protein mRNA; analysis these 2 homozygous deletions, 6 methylations at exon 2, with no detectable abnormalities. In tumors, 16 (34.7%) these, 12 had abnormalities 4 methylation. Loss expression was found in three concurrent mutation methylation (two) both (one). 30 that 27 also failed RT-PCR amplification. Twenty-two thirty alterations eight manifested abnormalities; comprised mutations 13 exons (12 mutation) 1. Except patients' gender (P = 0.02), significant correlation between clinicopathological factors observed. conclude HNSC 1) intragenic are infrequent events, 2) constitutes a common mechanism silencing gene, 3) inactivation may play an important role early development progression HNSC, 4) association conventional noted this cohort.