Chromosome 7 abnormalities are common in chordomas.

Chordomas are malignant bone tumors most often located in the axial skeleton. The estimated 5-year patient survival rate is between 50 and 80%. The cytogenetic and molecular genetic features of chordomas are largely unknown but, from what can be seen, appear to be complex. Near-diploid karyotypes have been detected by G-banding analysis, and comparative genomic hybridization (CGH) has revealed losses of or from chromosome arms 1p and 3p, as well as partial or whole copy number gains of chromosomes 7 and 20. We provide additional molecular cytogenetic information about six sacral chordomas examined by CGH and interphase fluorescence in situ hybridization (IP-FISH). By CGH, gains of chromosomal areas 1q23 approximately q24 (three tumors), 7p21 approximately p22 (three tumors), 7q (four tumors), and 19p13 (three tumors), as well as loss of chromosomal segment 9p22 approximately p23 (three tumors), were the most frequently observed imbalances. These results are concordant with earlier CGH data, although loss of or from chromosome arms 1p and 3p was not found as frequently in this series; both were detected in only one tumor. IP-FISH confirmed the CGH findings and showed that chromosome 7 was polysomic in four of the tumors. All these samples had trisomic and tetrasomic clones for chromosome 7, and two of them had pentasomic clones as well.