Genetic profiling of malignant melanoma arising from an ovarian mature cystic teratoma: A case report

Kohei Nakamura, Eriko Aimono, Reika Takamatsu, Shigeki Tanishima, Tomonari Tohyama, Katsutoshi Sasano, Hiroshi Sakuma, Hiroshi Nishihara

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Ovarian mature cystic teratomas comprise tissues derived from all three germ layers. In rare cases, malignant tumors arise from ovarian mature cystic teratoma. A variety of tumors can arise from mature cystic teratoma, among which primary malignant melanoma (MM), for which no molecular analyses such as genomic sequencing have been reported to date, is exceedingly rare, thereby limiting possible therapeutic options using precision medicine. We used targeted gene sequencing to analyze the status of 160 cancer-related genes in a patient with MM arising from an ovarian mature cystic teratoma (MM-MCT). KRAS amplification and homozygous deletion in PTEN and RB1 were detected in tumor samples collected from the patient. No KRAS amplification has been previously reported in cutaneous MM, indicating that the carcinogenesis of MM-MCT differs from that of primary cutaneous melanomas. A better understanding of the underlying genetic mechanisms will help clarify the carcinogenesis of MM-MCT. In turn, this will enable treatment with novel targeting agents as well as the initial exploration of gene-based precision oncological therapies, which aim to improve treatment outcomes for patients with this disease.

Original languageEnglish
Article number2436
Pages (from-to)1-7
Number of pages7
JournalInternational journal of molecular sciences
Issue number5
Publication statusPublished - 2021 Mar 1


  • Genome sequencing
  • Malignant melanoma
  • Mature cystic teratoma
  • Precision medicine

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


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