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病例报告:奥拉帕尼对伴有突变的小细胞食管癌显示出令人满意的临床疗效。

Case Report: Olaparib Shows Satisfactory Clinical Outcomes Against Small Cell Esophageal Carcinoma With Mutation.

作者信息

Wang Weiwei, Zhang Xiaoyan, Fang Yu, He Jia, Huang Jingjing, Li Shanqing, Ma Tonghui, Li Li

机构信息

Department of Thoracic Surgery, Peking Union Medical College Hospital, Beijing, China.

Department of Translational Medicine, Genetron Health Technology, Co. Ltd., Beijing, China.

出版信息

Front Oncol. 2022 Apr 11;12:808801. doi: 10.3389/fonc.2022.808801. eCollection 2022.

Abstract

Small cell esophageal carcinoma (SCEC) is a rare, undifferential type of cancer, with a high degree of malignancy and early systemic metastasis. Radio-chemotherapy and surgery have been used as the primary treatment strategies for SCEC, but they both result in poor prognosis. There is need to develop an optimal standard treatment for the disease to improve prognosis and limit the related mortality. In this study, we described identification of driver mutations in , a gene involved in homologous recombination deficiency (HRD) pathway, using next-generation sequencing on primary lesion and peripheral blood of a SCEC patient, who experienced recurrence after resection and radio-chemotherapy. In addition, we subjected the patient to olaparib, a PARP inhibitor, for the treatment of tumor with HRD and obtained a partial response. This is the first evidence implicating olaparib in successful treatment of SCEC with mutation. The findings suggest that targeting mutations in HRD genes using olaparib or actionable genetic mutations using corresponding drugs, may be an effective therapeutic option for SCEC, although this requires further investigation.

摘要

小细胞食管癌(SCEC)是一种罕见的未分化型癌症,具有高度恶性和早期全身转移的特点。放化疗和手术一直是SCEC的主要治疗策略,但两者的预后都很差。需要为该疾病制定最佳标准治疗方案,以改善预后并降低相关死亡率。在本研究中,我们描述了对一名SCEC患者的原发性病变和外周血进行二代测序,以鉴定参与同源重组缺陷(HRD)途径的基因中的驱动突变,该患者在切除及放化疗后复发。此外,我们让该患者使用PARP抑制剂奥拉帕利治疗具有HRD的肿瘤,并获得了部分缓解。这是奥拉帕利成功治疗携带 突变的SCEC的首个证据。研究结果表明,使用奥拉帕利靶向HRD基因中的突变或使用相应药物靶向可操作的基因突变,可能是SCEC的一种有效治疗选择,尽管这还需要进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3eb9/9036436/5a41016dd3fb/fonc-12-808801-g001.jpg

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