Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma

Shan Gao, Jesper Worm, Per Guldberg, Hans Eiberg, Annelise Krogdahl, Chung-Ji Liu, Jesper Reibel, Erik Dabelsteen

74 Citations (Scopus)

Abstract

Loss of histo-blood group A and B antigen expression is a frequent event in oral carcinomas and is associated with decreased activity of glycosyltransferases encoded by the ABO gene. We examined 30 oral squamous cell carcinomas for expression of A and B antigens and glycosyltransferases. We also examined DNA from these tumors for loss of heterozygosity (LOH) at markers surrounding the ABO locus at chromosome 9q34, for loss of specific ABO alleles, and for hypermethylation of the ABO promoters. Loss of A or B antigen expression was found in 21 of 25 tumors (84%) and was a consistent feature of tumors lacking expression of A/B glycosyltransferases. LOH at 9q34 was found in 7 of 27 cases (26%), and one case showed microsatellite instability. Among 20 AO/BO cases, 3 showed loss of the A/B allele and 3 showed loss of the O allele. Analysis of the proximal ABO promoter by methylation-specific PCR and melting curve analysis showed hypermethylation in 10 of 30 tumors (33.3%), which was associated with loss of A/B antigen expression. ABO promoter hypermethylation was also found in hyperplastic or dysplastic tissues adjacent to the tumors, suggesting that it is an early event in tumorigenesis. Collectively, we have identified molecular events that may account for loss of A/B antigen expression in 67% of oral squamous cell carcinomas.

Original languageEnglish
JournalInternational journal of cancer. Journal international du cancer
Volume109
Issue number2
Pages (from-to)230-7
Number of pages8
ISSN0020-7136
DOIs
Publication statusPublished - 20 Mar 2004

Keywords

  • ABO Blood-Group System
  • Adult
  • Aged
  • Carcinoma, Squamous Cell
  • DNA Methylation
  • DNA, Neoplasm
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Loss of Heterozygosity
  • Male
  • Middle Aged
  • Mouth Neoplasms
  • Promoter Regions, Genetic

Fingerprint

Dive into the research topics of 'Genetic and epigenetic alterations of the blood group ABO gene in oral squamous cell carcinoma'. Together they form a unique fingerprint.

Cite this