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c-KIT codon 816 mutation in a recurrent and metastatic dysgerminoma of a 14-year-old girl: case study
Katharina Pauls1, Eva Wardelmann, Sabine Merkelbach-Bruse
1Department of Pathology, University of Bonn, Germany.
Abstract:
Dysgerminomas are rare female germ-cell tumors that correspond histologically and immunohistochemically to seminomas. Analogous to seminomas, most dysgerminomas respond very well to cisplatin- or carboplatin-based chemotherapy and to radiotherapy. KIT tyrosine kinase is crucial for normal germ-cell development, and its expression is observed in the majority of seminomas and dysgerminomas. Recently, activating KIT mutations were described in a panel of male germ-cell tumors [5, 10]. All mutations were localized in exon 17, encoding the second tyrosine kinase domain. Because receptor tyrosine kinase KIT might also be involved in the pathogenesis of dysgerminomas, we studied the expression and mutational status of a pure dysgerminoma, which was sent to our department for diagnostic reasons. The tumor revealed an exon 17 D816 V mutation in the c-KIT gene and strong KIT expression was found immunohistochemically. Clinically, the tumor was highly aggressive and resistant to carboplatin-based chemotherapy. Our case raises the question of whether exon 17 c-KIT mutations might be involved in the pathogenesis of dysgerminoma and whether exon 17 KIT mutations may predict aggressive and chemotherapy-resistant behavior of dysgerminomas.
Insights
Activating mutations in the c-KIT gene's exon 17 were found in a rare, aggressive dysgerminoma. This discovery suggests a potential link between c-KIT mutations and chemotherapy resistance in these female germ-cell tumors.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Dysgerminomas are rare female germ-cell tumors, histologically similar to seminomas.
- Both tumor types typically respond well to chemotherapy and radiotherapy.
- KIT tyrosine kinase is vital for germ-cell development and often expressed in these tumors.
Observation:
- A pure dysgerminoma case presented with an exon 17 D816V mutation in the c-KIT gene.
- Strong KIT expression was confirmed immunohistochemically in the tumor.
- Clinically, this dysgerminoma exhibited aggressive behavior and resistance to carboplatin-based chemotherapy.
Findings:
- The study identified a specific c-KIT mutation (D816V in exon 17) in a dysgerminoma.
- This mutation was associated with strong KIT protein expression.
- The presence of the mutation correlated with aggressive tumor behavior and chemotherapy resistance.
Implications:
- Exon 17 c-KIT mutations may play a role in dysgerminoma pathogenesis.
- These mutations could serve as predictive biomarkers for aggressive disease and treatment resistance.
- Further research is warranted to explore therapeutic strategies targeting KIT in resistant dysgerminomas.
