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一名主要由小细胞神经内分泌癌组成且肿瘤突变负荷高的妇科混合癌患者对免疫治疗联合化疗的完全缓解:病例报告

Complete Response to Immunotherapy Combined With Chemotherapy in a Patient With Gynecological Mixed Cancer Mainly Composed of Small Cell Neuroendocrine Carcinoma With High Tumor Mutational Burden: A Case Report.

作者信息

Su Xingyun, Zhou Xinhui, Xiao Cheng, Peng Wei, Wang Qiangfeng, Zheng Yulong

机构信息

Department of Medical Oncology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Department of Gynecology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

出版信息

Front Oncol. 2022 Jun 20;12:750970. doi: 10.3389/fonc.2022.750970. eCollection 2022.

Abstract

Small cell neuroendocrine carcinoma (SCNEC) is rare in the gynecologic tract, which has high invasive and metastatic ability. Due to the aggressive behavior and lack of treatment, patients have an extremely poor prognosis. Here we report a 66-year-old female diagnosed with SCNEC in the gynecologic tract, mixed with endometrioid adenocarcinoma, squamous cell, and adenosquamous carcinoma. A tumor mutational burden of 13.14 Muts/Mb was detected by next-generation sequencing. The patient underwent a palliative operation of total hysterectomy with bilateral adnexectomy but suffered from disease progression in a short time after the operation. Chemotherapy (paclitaxel + carboplatin) combined with immunotherapy (toripalimab) was conducted every 3 weeks, achieving a partial response after 2 cycles of treatment. After 5 cycles of combined treatment, the patient consolidated with monotherapy of toripalimab for about half a year and achieved a complete response. Until December 2021, the patient has achieved 27 months of progression-free survival and maintains a continued complete response. This case is presented due to the rare combination of pathological types and durable response to treatment especially immunotherapy, suggesting the potential value of immunotherapy in SCNEC of the gynecologic tract.

摘要

小细胞神经内分泌癌(SCNEC)在女性生殖道中较为罕见,具有较高的侵袭和转移能力。由于其侵袭性强且缺乏有效治疗方法,患者预后极差。在此,我们报告一例66岁女性,被诊断为女性生殖道SCNEC,同时合并子宫内膜样腺癌、鳞状细胞癌和腺鳞癌。通过二代测序检测到肿瘤突变负荷为13.14 Muts/Mb。该患者接受了全子宫切除术加双侧附件切除术的姑息性手术,但术后短时间内疾病进展。每3周进行一次化疗(紫杉醇+卡铂)联合免疫治疗(托瑞帕利单抗),2个周期治疗后获得部分缓解。经过5个周期的联合治疗后,患者接受托瑞帕利单抗单药巩固治疗约半年,获得完全缓解。截至2021年12月,该患者已实现27个月无进展生存,并持续保持完全缓解。本病例因其罕见的病理类型组合以及对治疗尤其是免疫治疗的持久反应而被报道,提示免疫治疗在女性生殖道SCNEC中的潜在价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/98b7/9251297/b1f1b8df2c72/fonc-12-750970-g001.jpg

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