Irie Taichi, Iida Yasushi, Hamada Yoshinobu, Matsushima Jun, Iizuka Makoto, Takakura Satoshi
Department of Obstetrics and Gynecology, Dokkyo Medical University Saitama Medical Center Koshigaya, 2-1-50 Minami Koshigaya, Koshigaya, Saitama 343-8555 Japan.
Center for Genetic Concerning, Dokkyo Medical University Saitama Medical Center Koshigaya, Koshigaya, Saitama Japan.
Int Cancer Conf J. 2025 May 24;14(3):302-310. doi: 10.1007/s13691-025-00770-1. eCollection 2025 Jul.
Primary carcinosarcomas are a rare type of cervical tumors. A 75-year-old female patient diagnosed with stage IB2 cervical carcinosarcoma (CCS) was treated with radical surgery followed by adjuvant chemoradiotherapy. She survived without recurrence for 3 years after the surgery. Double somatic mutations of the (c.802C > T [p.Glu268*], variant allele frequency [VAF] of 48.5%, and c.7181C > T [p.Ser2394Leu], VAF of 45.1%) and (c.1021C > T [p.Arg341*], VAF of 2.4%) genes were detected in the CCS via next-generation sequencing analyses. Retrospective studies using large databases should be performed to establish a consensus regarding the use of combination therapies in elderly patients with primary CCS. To the best of our knowledge, this report first revealed the presence of mutations in a patient with primary CCS. Previous studies and the current data showed therapeutic possibilities for the subsets of gynecologic carcinosarcoma and provided information on the molecular mechanism of its development.
原发性癌肉瘤是一种罕见的宫颈肿瘤类型。一名75岁诊断为IB2期宫颈原发性癌肉瘤(CCS)的女性患者接受了根治性手术,随后进行辅助放化疗。术后她存活了3年无复发。通过二代测序分析在该CCS中检测到了 基因的双体细胞突变(c.802C>T [p.Glu268*],变异等位基因频率[VAF]为48.5%,以及c.7181C>T [p.Ser2394Leu],VAF为45.1%)和 基因的(c.1021C>T [p.Arg341*],VAF为2.4%)突变。应进行使用大型数据库的回顾性研究,以就老年原发性CCS患者联合治疗的应用达成共识。据我们所知,本报告首次揭示了原发性CCS患者中存在 突变。既往研究和当前数据显示了妇科癌肉瘤亚组的治疗可能性,并提供了其发生发展分子机制的信息。