engleski

Analysis of alterations of the PTCH1 signaling pathway in ovarian dermoids

Constitutional hemizygous inactivation of PTCH1 results in nevoid basal cell carcinoma syndrome or Gorlin syndrome. This syndrome is characterized ny a number of developmental abnormalities and a predisposition to tumors and cysts. We recently have investigated the status of the PTCHl locus in a large set of sporadic noninflammatory, developmental cysts. Our data showed allelic loss of microsatellite markers in close vicinity to the PTCH1 locus in both dentigerous cysts as well as in ovarian dermoid cysts. Since these findings for the latter type of cyst was surprising we set out and closely examined the status of the PTCH1 gene in 7 ovarian dermoids. Although two of the cases demonstrated allelic loss for microsatellite markers in close vicinity of the PTCH1 locus, both cases were heterotygous at three polymorphic sites (1686C-T and /or IVS15+9G-C and /or 3944C-T) within the coding region of the PTCH1 gene. No nonsense or missense mutations in the coding region of PTCH1 were detected in genomic DNA isolated from any of the dermoids. The lack of mutations within the coding region of PTCH1 was consistent with the data of gene expression analysis, which did not reveal transcriptional activation of the major downstream target genes of the PTCH1 signaling pathway in all ovarian dermoids examined.

tumors ; PTCH ; ovarian dermoids

nije evidentirano