Giant subependymoma developed in a patient with aniridia: analyses of PAX6 and tumor-relevant genes.

ABSTRACT: We observed an unusually large subependymoma in a female patient with congenital aniridia. To analyze the genetic mechanisms of tumorigenesis, we first examined the paired box 6 (PAX6) gene using both tumor tissue and peripheral lymphocytes. Tumor suppressor activity has been proposed for PAX6 in gliomas, in addition to its well-known role in the eye development. Using genomic quantitative PCR and loss of heterozygosity analysis, we identified hemizygous deletions in the 5'-region of PAX6. In lymphocytes, the deletion within PAX6 spanned from between exons 6 and 7 to the 5'-upstream region of the gene, but did not reach the upstream gene, RNC1, which is reported to be associated with tumors. The subependymoma had an additional de novo deletion spanning from the intron 4 to intron 6 of PAX6

SUBMITTER: Maekawa M 

PROVIDER: S-EPMC2991767 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature