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Volume 22
Issue 5
10.3390/ijms22052436
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Case Report

Genetic Profiling of Malignant Melanoma Arising from an Ovarian Mature Cystic Teratoma: A Case Report

by
Kohei Nakamura
1,2,*,
Eriko Aimono
1,
Reika Takamatsu
1,
Shigeki Tanishima
3,
Tomonari Tohyama
4,
Katsutoshi Sasano
4,
Hiroshi Sakuma
2 and
Hiroshi Nishihara
1
1
Genomics Unit, Keio Cancer Center, Keio University School of Medicine, 35 Shinanomachi, Shinjukuku, Tokyo 160-8582, Japan
2
Department of Obstetrics and Gynecology, Kumagaya General Hospital, Saitama 360-8657, Japan
3
Department of Biomedical Informatics, Kansai Division, Mitsubishi Space Software Co., Ltd., Tokyo 105-6132, Japan
4
Department of Laboratory, Kumagaya General Hospital, Saitama 360-8657, Japan
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2021, 22(5), 2436; https://doi.org/10.3390/ijms22052436
Submission received: 30 January 2021 / Revised: 24 February 2021 / Accepted: 26 February 2021 / Published: 28 February 2021
(This article belongs to the Collection Feature Papers in Molecular Genetics and Genomics)
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Abstract

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.
Keywords: malignant melanoma; mature cystic teratoma; genome sequencing; precision medicine malignant melanoma; mature cystic teratoma; genome sequencing; precision medicine

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MDPI and ACS Style

Nakamura, K.; Aimono, E.; Takamatsu, R.; Tanishima, S.; Tohyama, T.; Sasano, K.; Sakuma, H.; Nishihara, H. Genetic Profiling of Malignant Melanoma Arising from an Ovarian Mature Cystic Teratoma: A Case Report. Int. J. Mol. Sci. 2021, 22, 2436. https://doi.org/10.3390/ijms22052436

AMA Style

Nakamura K, Aimono E, Takamatsu R, Tanishima S, Tohyama T, Sasano K, Sakuma H, Nishihara H. Genetic Profiling of Malignant Melanoma Arising from an Ovarian Mature Cystic Teratoma: A Case Report. International Journal of Molecular Sciences. 2021; 22(5):2436. https://doi.org/10.3390/ijms22052436

Chicago/Turabian Style

Nakamura, Kohei, Eriko Aimono, Reika Takamatsu, Shigeki Tanishima, Tomonari Tohyama, Katsutoshi Sasano, Hiroshi Sakuma, and Hiroshi Nishihara. 2021. "Genetic Profiling of Malignant Melanoma Arising from an Ovarian Mature Cystic Teratoma: A Case Report" International Journal of Molecular Sciences 22, no. 5: 2436. https://doi.org/10.3390/ijms22052436

APA Style

Nakamura, K., Aimono, E., Takamatsu, R., Tanishima, S., Tohyama, T., Sasano, K., Sakuma, H., & Nishihara, H. (2021). Genetic Profiling of Malignant Melanoma Arising from an Ovarian Mature Cystic Teratoma: A Case Report. International Journal of Molecular Sciences, 22(5), 2436. https://doi.org/10.3390/ijms22052436

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