Fluorescent in situ hybridisation (FISH) characterisation of pericentromeric breakpoints on chromosome 5 in head and neck squamous cell carcinomas

Pericentromeric rearrangements, such as isochromosomes and whole-arm translocations, are frequently encountered in short-term cultures from head and neck squamous cell carcinomas (HNSCC). To characterise further the localisation of the breakpoints in such rearrangements, metaphase cells from seven HNSCC known to carry structural rearrangements of the pericentromeric region of chromosome 5 were investigated using fluorescent in situ hybridisation (FISH) techniques. With a whole chromosome painting probe it could be confirmed that all chromosome 5 rearrangements identified at cytogenetic analysis contained chromosome 5 material. By using a centromere-specific alpha satellite probe it could be shown, however, that cytogenetically identical derivative chromosomes had different breakpoints. Thus, we conclude that the results of the present investigation add further support to the hypothesis that the essential outcome of near-centromeric chromosome rearrangements is the creation of genomic imbalances, i.e. gain and/or loss of neoplasia-associated genes.