Oberndorfer Felicitas, Moling Sarah, Hagelkruys Leonie Annika, Grimm Christoph, Polterauer Stephan, Sturdza Alina, Aust Stefanie, Reinthaller Alexander, Müllauer Leonhard, Schwameis Richard
Department of Pathology, Medical University of Vienna, 1090 Vienna, Austria.
Comprehensive Cancer Center, Gynecologic Cancer Unit, Department of Obstetrics and Gynecology, Medical University of Vienna, 1090 Vienna, Austria.
J Pers Med. 2021 Jan 15;11(1):48. doi: 10.3390/jpm11010048.
Recently, guidelines for endometrial cancer (EC) were released that guide treatment decisions according to the tumors' molecular profiles. To date, no real-world data regarding the clinical feasibility of molecular profiling have been released. This retrospective, monocentric study investigated the clinical feasibility of molecular profiling and its potential impact on treatment decisions. Tumor specimens underwent molecular profiling (testing for genetic alterations, (immune-)histological examination of lymphovascular space invasion (LVSI), and L1CAM) as part of the clinical routine and were classified according to the European Society for Medical Oncology (ESMO) classification system and to an integrated molecular risk stratification. Shifts between risk groups and potential treatment alterations are described. A total of 60 cases were included, of which twelve were excluded (20%), and eight of the remaining 48 were not characterized (drop-out rate of 16.7%). Molecular profiling revealed 4, 6, 25, and 5 patients with DNA polymerase-epsilon mutation, microsatellite instability, no specific molecular profile, and TP53 mutation, respectively. Three patients had substantial LVSI, and four patients showed high L1CAM expression. Molecular profiling took a median of 18.5 days. Substantial shifts occurred between the classification systems: four patients were upstaged, and 19 patients were downstaged. Molecular profiling of EC specimens is feasible in a daily routine, and new risk classification systems will change treatment decisions substantially.
最近，子宫内膜癌（EC）指南发布，该指南根据肿瘤的分子特征指导治疗决策。迄今为止，尚未发布有关分子特征临床可行性的真实世界数据。这项回顾性单中心研究调查了分子特征的临床可行性及其对治疗决策的潜在影响。作为临床常规操作的一部分，肿瘤标本进行了分子特征分析（检测基因改变、对淋巴血管间隙浸润（LVSI）进行（免疫）组织学检查以及检测L1CAM），并根据欧洲医学肿瘤学会（ESMO）分类系统和综合分子风险分层进行分类。描述了风险组之间的转变以及潜在的治疗改变。总共纳入60例病例，其中12例被排除（20%），其余48例中有8例未被明确特征（脱落率为16.7%）。分子特征分析显示，分别有4例、6例、25例和5例患者存在DNA聚合酶ε突变、微卫星不稳定性、无特定分子特征以及TP53突变。3例患者有显著的LVSI，4例患者显示L1CAM高表达。分子特征分析的中位时间为18.5天。分类系统之间发生了显著变化：4例患者分期上调，19例患者分期下调。EC标本的分子特征分析在日常工作中是可行的，新的风险分类系统将显著改变治疗决策。
