Identification of isochromosome 1q as a recurring chromosome aberration in skull base chordomas: a new marker for aggressive tumors?

Abstract

Object The authors conducted a study of 22 skull base chordomas. Methods A series of 22 skull base chordomas was analyzed with G banding. Subsequently, metaphase cells obtained from three tumors were reexamined using multicolor spectral karyotyping. Clonal chromosome aberrations were identified in 11 cases, all of which were recurrent tumors. Three tumors showed a remarkable similarity in cytogenetic features, and these features appear to characterize a recurring combination of nonrandom chromosome aberrations, including isochromosome 1q, gain of chromosome 7, and monosomy for chromosomes 3, 4, 10,13, and 18. Isochromosome 1q was identified as the sole recurring structural chromosome rearrangement in these tumors. The pattern of chromosome loss reported in the progression of lumbosacral chordoma also appears to be true of skull base chordomas with the additional findings of isochromosome 1q, gain of chromosome 7, and loss of chromosome 18. Conclusions Skull base chordomas characterized by isochromosome 1q and monosomy 13 provide support for the concept of the loss of putative tumor suppressor loci on 1p and 13q and aggressive tumor behavior.