Chromosome 22 heterozygosity is retained in most hyperdiploid and pseudodiploid meningiomas.

Hyperdiploid or pseudodiploid modal chromosome numbers were found characterizing six human meningiomas, and all six tumors were disomic for chromosome 22. The scarce previous reports on the subject suggest that, in these cytogenetic subgroups of meningiomas, duplication of the retained chromosome 22 occurs after the loss of the other member of the pair, thus correlating well with the main characteristic of meningiomas, that is, losses of 22. To verify this question, molecular genetic analyses were performed on DNA pairs from blood and tumoral samples of all six cases, using polymorphic markers for chromosome 22. Restriction fragment length polymorphism studies failed to show any loss of heterozygosity for markers located on this chromosome in all six cases, suggesting that a different mechanism to that previously proposed might take place in the hyperdiploid or pseudodiploid meningiomas; perhaps a submicroscopic involvement (microdeletions or inactivating mutations) of the meningioma locus (both alleles) may result in an effect similar to that produced by monosomy 22 (which probably unmasks recessive mutations on the retained allele), enhancing the development of meningiomas.