肛门和宫颈癌的遗传分析：ProfiLER 数据库中关于放射抵抗的探索性发现。
Genetic Analysis in Anal and Cervical Cancer: Exploratory Findings About Radioresistance in the ProfiLER Database.
机构信息
Department of Medical Oncology, Lucien Neuwirth Cancer Institute, Saint-Priest-en-Jarez, France.
Department of Radiation Oncology, Lucien Neuwirth Cancer Institute, Saint-Priest-en-Jarez, France.
出版信息
Cancer Genomics Proteomics. 2021 Jul-Aug;18(4):515-520. doi: 10.21873/cgp.20276.
BACKGROUND/AIM: This study aimed to describe genomic alterations on squamous cell cervical and anal carcinomas.
MATERIALS AND METHODS
From 2013 to 2019, 3,269 patients were included in the molecular screening ProfiLER trial. Only patients with non-metastatic cervical or anal cancer, and those initially treated with radiotherapy in a curative intent were selected. Genetic analyses were performed by next generation sequencing (NGS).
RESULTS
Genomic alterations were observed in most patients: 5 patients out of 15 (33.3%) had at least one mutation on NGS and 4 out of 15 (26.7%) had at least one aberration of the number of copies of genes in the comparative genomic hybridation (CGH) analysis. The most common mutated gene was PIK3CA.
CONCLUSION
All omic approaches must be integrated in the locally advanced cancer setting by new clinical trial design to develop two routes in the treatment strategy: intensification or de-escalation treatment strategy according to omic markers.
背景/目的：本研究旨在描述宫颈和肛门鳞癌的基因组改变。
材料和方法
2013 年至 2019 年，3269 名患者纳入分子筛选 ProfiLER 试验。仅选择无转移的宫颈或肛门癌患者，以及最初以根治为目的接受放疗的患者。通过下一代测序（NGS）进行遗传分析。
结果
大多数患者存在基因组改变：15 名患者中有 5 名（33.3%）在 NGS 上至少有一个突变，15 名患者中有 4 名（26.7%）在比较基因组杂交（CGH）分析中至少有一个基因拷贝数的异常。最常见的突变基因是 PIK3CA。
结论
所有的组学方法都必须通过新的临床试验设计整合到局部晚期癌症的治疗中，以根据组学标志物制定两种治疗策略：强化或降阶治疗策略。
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