KIT Gene Mutation and Amplification in Dysgerminoma of the Ovary.
Liang Cheng, Lawrence M Roth, Shaobo Zhang, Mingsheng Wang, Michael J Morton, Wenxin Zheng, Fadi W Abdul Karim, Rodolfo Montironi, Antonio Lopez-Beltran. Indiana University, Indianapolis; University of Arizona, Tucson; Case Western Reserve University, Cleveland, OH; Polytechnic University of the Marche Region and United Hospitals, Ancona, Italy; Cordoba University, Spain
Background: Dysgerminoma, the ovarian counterpart of seminoma, is the most common type of malignant ovarian germ cell tumor. The role of KIT mutation and amplification in the development of dysgerminoma is not currently established. We analyzed alterations of the KIT gene in a large series of dysgerminomas and correlated the findings with clinicopathologic parameters.
Design: Dysgerminoma cells from 22 patients were analyzed for KIT mutations at exon 17 codon 816. KIT amplification and chromosome 12p anomalies were investigated by dual color fluorescence in situ hybridization. KIT protein expression was also examined by immunohistochemistry.
Results: KIT exon 17 codon 816 mutations were detected in 6 cases (27%) of dysgerminomas, KIT amplification was detected in 6 (27%) cases and KIT expression was detected in 87% of the dysgerminomas. The KIT mutation was associated with advanced pathological stage (P<0.05), and KIT amplification was associated with elevated KIT protein expression (P<0.05). Chromosome 12p anomalies were found in 82% of the dysgeminomas and did not correlate with KIT abnormalities.
Conclusions: KIT mutations occur in approximately one third of cases of dysgerminomas and are associated with advanced stage at presentation. KIT is a potential therapeutic target for those dysgerminomas that have the mutation.
Category: Gynecologic & Obstetrics
Tuesday, March 1, 2011 1:00 PM
Poster Session IV # 128, Tuesday Afternoon