Genomics Unit, Keio Cancer Center, Keio University School of Medicine, 35 Shinanomachi, Shinjukuku, Tokyo 160-8582, Japan.
Department of Obstetrics and Gynecology, Kumagaya General Hospital, Saitama 360-8657, Japan.
Int J Mol Sci. 2021 Feb 28;22(5):2436. doi: 10.3390/ijms22052436.
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). amplification and homozygous deletion in and were detected in tumor samples collected from the patient. No 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.
卵巢成熟囊性畸胎瘤包含源自三个胚层的组织。在极少数情况下，恶性肿瘤可源自卵巢成熟囊性畸胎瘤。各种肿瘤可源自成熟囊性畸胎瘤，其中原发性恶性黑色素瘤（MM）极为罕见，目前尚无报道对其进行基因组测序等分子分析，从而限制了使用精准医学的可能治疗选择。我们使用靶向基因测序分析了源自卵巢成熟囊性畸胎瘤的 MM（MM-MCT）患者的 160 个癌症相关基因的状态。在从患者采集的肿瘤样本中检测到 和 扩增和纯合缺失。以前在皮肤 MM 中未报道过 扩增，表明 MM-MCT 的发生与原发性皮肤黑色素瘤不同。更好地了解潜在的遗传机制将有助于阐明 MM-MCT 的发生机制。反过来，这将有助于使用新型靶向药物进行治疗，并初步探索基于基因的精准肿瘤学治疗方法，旨在改善此类疾病患者的治疗效果。
