Cytogenetic characteristics of oral squamous cell carcinomas in Fanconi anemia

Fam Cancer. 2001;1(1):39-43. doi: 10.1023/a:1011528310346.

Abstract

Fanconi anemia (FA) is an autosomal recessive syndrome with a marked predisposition to malignancies, in particular acute myeloid leukemia and squamous cell carcinoma of the oral cavity. We examined oral squamous cell carcinoma tissue from two FA patients (FA-A and FA-C) by comparative genomic hybridization. Both tumors, which were negative for human papilloma as well as Epstein-Barr viral sequences, showed multiple alterations with a high proportion of whole-arm chromosomal gains and losses. This combination of features as well as the sites involved in chromosomal breakage are very similar to what is typically observed in non-FA oral tumors. These results suggest that the process leading to early occurrence of oral cancer in FA patients follows a similar pathway as in non-FA cancer patients, which would support a caretaker function for FA genes in the protection against oral carcinogenesis. Since FA patients are uniquely hypersensitive to DNA cross-linking agents, while oral cancer in the general population is thought to be environmentally induced, these results also suggest that environmental DNA cross-linkers may be causally involved in oral carcinogenesis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carcinoma, Squamous Cell / complications
  • Carcinoma, Squamous Cell / genetics*
  • Chromosome Aberrations*
  • Fanconi Anemia / complications
  • Fanconi Anemia / genetics*
  • Female
  • Flow Cytometry
  • Frameshift Mutation
  • Humans
  • Karyotyping
  • Mouth Neoplasms / complications
  • Mouth Neoplasms / genetics*