Suppr超能文献

伴有**和**基因体细胞突变的原发性子宫颈癌肉瘤:一例报告。 (注:原文中“and”前后的基因名称缺失,翻译时按原文格式保留)

Primary carcinosarcoma of the uterine cervix with somatic mutations of the and genes: a case report.

作者信息

Irie Taichi, Iida Yasushi, Hamada Yoshinobu, Matsushima Jun, Iizuka Makoto, Takakura Satoshi

机构信息

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.

出版信息

Int Cancer Conf J. 2025 May 24;14(3):302-310. doi: 10.1007/s13691-025-00770-1. eCollection 2025 Jul.

Abstract

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.

摘要

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。

相似文献

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验