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AKT通路抑制剂成功治疗腹壁晚期子宫内膜异位症相关透明细胞癌:病例报告

Successful Treatment of Abdominal Wall Advanced Endometriosis-Associated Clear Cell Carcinoma with AKT Pathway Inhibitor: Case Report.

作者信息

Ko Ya-Ting, Wu Ching-Hsuan, Chang Cheng-Shyong, Lai De-Wei, Liu Ta-Chih

机构信息

Department of Hematology-Oncology, Chang Bing Show Chwan Memorial Hospital, Changhua 505029, Taiwan.

Department of Molecular Biology and Cell Research, Chang Bing Show Chwan Memorial Hospital, Changhua 505029, Taiwan.

出版信息

Medicina (Kaunas). 2024 Nov 26;60(12):1946. doi: 10.3390/medicina60121946.

Abstract

The emergence of endometriosis-associated clear cell carcinoma (CCC) within the abdominal wall is a notably rare phenomenon. This condition predominantly impacts females who have previously undergone surgical interventions, including hysterectomy or caesarean section (C-section), with the malignant transformation of endometriosis within the post-surgical abdominal scar posited as a likely mechanism. Herein, we delineate a distinctive case of endometriosis-associated CCC emanating from the abdominal wall. The therapeutic approach for the patient encompassed surgical resection, complemented by a regimen of adjuvant chemotherapy, radiotherapy, immunotherapy, and targeted therapy. Despite these measures, the patient experienced disease progression, manifested by bilateral inguinal lymph node involvement and metastasis to the left femoral bone. Advanced molecular diagnostics, specifically next-generation sequencing (NGS) of the resected specimen, identified a targetable mutation. Subsequent treatment with alpelisib and everolimus was initiated, culminating in a sustained complete response.

摘要

腹壁出现子宫内膜异位症相关的透明细胞癌(CCC)是一种极为罕见的现象。这种情况主要影响既往接受过手术干预的女性,包括子宫切除术或剖宫产(C -section),手术腹壁瘢痕内的子宫内膜异位症恶变被认为是一种可能的机制。在此,我们描述了一例源自腹壁的子宫内膜异位症相关 CCC 的独特病例。该患者的治疗方法包括手术切除,并辅以辅助化疗、放疗、免疫治疗和靶向治疗方案。尽管采取了这些措施,患者仍出现疾病进展,表现为双侧腹股沟淋巴结受累及左股骨转移。先进的分子诊断,特别是对切除标本进行二代测序(NGS),发现了一个可靶向的突变。随后开始使用阿培利司和依维莫司进行治疗,最终实现了持续的完全缓解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd7e/11676099/230a7cb64017/medicina-60-01946-g001.jpg

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