Complex karyotypic abnormality in ovarian fibroma associated with Gorlin syndrome

✍ Scribed by Smith, Lynn M. ;Hu, Ping ;Meyer, Larry J. ;Coffin, Cheryl M.

• Book ID: 101441934
• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 188 KB
• Volume: 112
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.10607

✦ Synopsis

Abstract

Nevoid basal cell carcinoma (NBCC) syndrome is an autosomal dominant disorder characterized by distinctive congenital malformations and a variety of benign and malignant neoplasms, including ovarian fibromas. We describe pathologic and cytogenetic findings in a large unilateral ovarian fibroma from a 12‐year‐old female with NBCC syndrome. The pathologic findings were characteristic for ovarian fibroma, but were unusual for the ovarian fibromas associated with NBCC syndrome because of the absence of calcification, the lack of bilaterality, and the presence of focal hypercellularity. The karyotype of tumor tissue showed complex numerical and structural abnormalities. Although there is frequent loss of heterozygosity of 9q22.3 and mutations in the __PTCH__gene in Gorlin syndrome, the ovarian fibroma in this case did not have cytogenetically detectable abnormalities of chromosome 9. © 2002 Wiley‐Liss, Inc.