Translational Medical Oncology Group (Oncomet), Health Research Institute of Santiago de Compostela (IDIS), University Hospital of Santiago de Compostela (SERGAS), Trav. Choupana s/n, 15706 Santiago de Compostela, Spain.
Department of Medicine, University of Santiago de Compostela (USC), Praza do Obradoiro, 0, 15705 Santiago de Compostela, Spain.
Int J Mol Sci. 2022 Aug 1;23(15):8539. doi: 10.3390/ijms23158539.
Endometrial cancer (EC) is the 4th most common neoplasm of the female genital tract, with 15-20% of patients being of high risk of recurrence which leads to a significant decrease in patient survival. Current therapeutic options for patients with EC are poor, being the combined therapy of carboplatin and paclitaxel the standard of care, with limited efficacy. Therefore, new therapeutic options and better monitoring tools are needed to improve the management of the disease. In the current case report, we showcase the value of liquid biopsy analyses in a microsatellite instability EC patient with initially good prognosis that however underwent rapid progression disease within 6 months post-surgery; through the study of plasma cfDNA/ctDNA dynamics to assess the tumour evolution during treatment, as well as the study of the uterine aspirate as a valuable sample that captures the intra-tumour heterogeneity that allows a comprehensive genomic profiling of the disease to identify potential therapeutic options. Furthermore, preclinical models were generated at the time of tumour progression to assess the efficacy of the identified targeted therapies.
子宫内膜癌（EC）是女性生殖道第四大常见肿瘤，15-20%的患者有复发的高风险，这导致患者的生存率显著下降。目前 EC 患者的治疗选择有限，卡铂和紫杉醇联合治疗是标准治疗方法，但疗效有限。因此，需要新的治疗选择和更好的监测工具来改善疾病的管理。在本病例报告中，我们展示了液体活检分析在一个微卫星不稳定 EC 患者中的价值，该患者最初的预后良好，但在手术后 6 个月内疾病迅速进展；通过研究血浆 cfDNA/ctDNA 动力学来评估治疗过程中的肿瘤演变，以及研究子宫抽吸物作为一种有价值的样本，它可以捕获肿瘤内异质性，从而对疾病进行全面的基因组分析，以确定潜在的治疗选择。此外，在肿瘤进展时生成了临床前模型，以评估所鉴定的靶向治疗的疗效。
