Dataset Information

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

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.

SUBMITTER: Nakamura K

PROVIDER: S-EPMC7957566 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Nakamura Kohei K Aimono Eriko E Takamatsu Reika R Tanishima Shigeki S Tohyama Tomonari T Sasano Katsutoshi K Sakuma Hiroshi H Nishihara Hiroshi H

International journal of molecular sciences 20210228 5

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 o ...[more]

PMID: 33670958

Similar Datasets

Project description:Mature ovarian teratoma is considered to be a parthenogenetic tumor that arises from a single oocyte/ovum. Conversely, complete hydatidiform mole (CHM) is androgenetic in origin: classic CHM arises from a single or two sperm. Since mature ovarian teratoma and CHM have only maternal and paternal genomes, respectively, their genome imprinting is theoretically reverse, but this has yet to be investigated. Genome imprinting in struma ovarii, a special form of mature teratoma, remains unclear. Although a mature teratoma can rarely arise in extragonadal sites, its genome imprinting, as well as cell origin, is poorly understood. One of the most important mechanisms of genome imprinting is DNA methylation. To investigate the methylation profile of imprinted genes, we performed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of 21 imprinting control region (ICRs) of 9 imprinted genes/gene clusters in formalin-fixed, paraffin-embedded samples obtained from 12 mature ovarian teratomas, 6 struma ovarii, 10 CHMs, and 7 extragonadal (1 sacrococcygeal, 6 mediastinal) mature teratomas of females. In mature ovarian teratomas, ICRs of maternally and paternally imprinted genes showed high and low levels of methylation, respectively, and this pattern was almost reverse in CHMs. In CHMs, however, some ICRs showed aberrant methylation. The methylation profile of struma ovarii was comparable to that of mature ovarian teratomas, except for an adenomatous tumor. In extragonadal mature teratomas, the methylation pattern was somatic or irregular. In conclusion, mature ovarian teratomas/struma ovarii, CHMs, and extragonadal mature teratomas showed distinct methylation profiles of imprinted genes. Ovarian teratomas and CHMs are most likely to inherit their methylation profiles from their ancestral germ cells, although some aberrant methylation suggests a relaxation of imprinting in CHMs and a subset of struma ovarii. Extragonadal mature teratomas may carry a methylation profile of misplaced primordial germ cells or possibly somatic cells that have been reprogrammed in vivo.

Dataset Information

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

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets