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PIK3CA 突变相关子宫内膜样浆液性和透明细胞性卵巢癌的罕见病理表型与阿培利司的优异应答

A Rare Pathological Phenotype of Endometrioid Serous and Clear-Cell Ovarian Cancer with PIK3CA Mutations in Relation to The Excellent Response of Alpelisib.

机构信息

Department of Medical Oncology, Cukurova University Faculty of Medicine, Adana 01250, Turkey.

Department of Obstetrics and Gynecology, Cukurova University Faculty of Medicine, Adana 01250, Turkey.

出版信息

Genes (Basel). 2023 Aug 16;14(8):1632. doi: 10.3390/genes14081632.

Abstract

Patients with metastatic ovarian cancer who develop resistance to standard therapy with or without platinum need to search for other therapeutic choices. Therefore, identifying genetic alterations and selecting an approach to treatment using precision medicine techniques are important. In a patient diagnosed with mixed-type ovarian cancer after surgery, adjuvant therapy was applied with a combination of carboplatin and taxane, but the disease recurred. Upon evaluation of the patient as having platinum-sensitive epithelial ovarian cancer (EOC), combination therapy with bevacizumab was initially successful. However, disease progression was again observed, and molecular analysis revealed the presence of an E545K mutation in the PIK3CA gene; therefore, a selective PI3K inhibitor, alpelisib, was used as a treatment under the compassionate-use protocol. The patient's complications improved after receiving the alpelisib medication. The patient has been in complete remission for over two years. This case serves as a rare example that confirms the utility of alpelisib in managing mixed-type ovarian cancer.

摘要

对于接受标准铂类药物治疗或铂类药物治疗后发生耐药的转移性卵巢癌患者,需要寻找其他治疗选择。因此,明确遗传改变并利用精准医学技术选择治疗方法非常重要。该患者术后诊断为混合型卵巢癌,给予卡铂联合紫杉烷辅助治疗,但疾病复发。评估患者为铂类敏感的上皮性卵巢癌(EOC)后,联合贝伐珠单抗治疗初获成功。但随后再次出现疾病进展,分子分析显示 PIK3CA 基因存在 E545K 突变,因此根据同情用药方案使用了选择性 PI3K 抑制剂阿培利司进行治疗。接受阿培利司治疗后,患者的并发症得到改善。患者目前已完全缓解超过两年。此病例罕见证实了阿培利司在治疗混合型卵巢癌中的应用价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c70/10454507/721a44e59fde/genes-14-01632-g001.jpg

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