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KIT gene mutation and amplification in dysgerminoma of the ovary
Liang Cheng1, Lawrence M Roth, Shaobo Zhang
1Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA. liang_cheng@yahoo.com
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. The purpose of this study was to analyze alterations of the KIT gene in a large series of dysgerminomas and correlate the findings with clinicopathological parameters.
Methods:
Dysgerminoma cells from 22 patients were analyzed for KIT mutations at exon 17 codon 816. KIT amplification and chromosome 12p anomalies were investigated by way of dual color fluorescence in situ hybridization. KIT protein expression was also examined by way of immunohistochemistry.
Results:
KIT exon 17 codon 816 mutations and KIT amplification were each detected in 6 cases of dysgerminoma (27%); however, there was no correlation between these 2 factors. KIT expression was detected in 87% of dysgerminomas. The KIT mutation was associated with advanced pathological stage (P < .05), and KIT amplification was associated with elevated KIT protein expression (P < .05). Chromosome 12p anomalies were found in 82% of the dysgerminomas 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.
Insights
KIT mutations are found in about one-third of ovarian dysgerminomas and linked to advanced disease. This suggests KIT may be a therapeutic target for dysgerminoma patients with these mutations.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Dysgerminoma is the most common malignant ovarian germ cell tumor.
- The role of KIT gene alterations in dysgerminoma pathogenesis is unclear.
- This study investigates KIT gene alterations in dysgerminomas.
Purpose of the Study:
- To analyze KIT gene mutations and amplification in dysgerminomas.
- To correlate KIT alterations with clinicopathological parameters.
- To assess KIT protein expression and chromosome 12p anomalies.
Main Methods:
- Analysis of KIT exon 17 codon 816 mutations in 22 dysgerminoma samples.
- Dual-color fluorescence in situ hybridization for KIT amplification and chromosome 12p anomalies.
- Immunohistochemistry to evaluate KIT protein expression.
Main Results:
- KIT mutations and amplification each found in 27% of dysgerminomas; no correlation between them.
- KIT expression detected in 87% of cases.
- KIT mutation associated with advanced stage; amplification with elevated KIT expression. Chromosome 12p anomalies found in 82% without correlation to KIT abnormalities.
Conclusions:
- KIT mutations occur in approximately one-third of dysgerminomas and are linked to advanced stage.
- KIT alterations represent potential therapeutic targets in dysgerminoma.
- Further research into KIT-targeted therapies for dysgerminoma is warranted.
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