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下一代测序技术在妇科癌症中的临床应用及影响

The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers.

作者信息

Maruthi Vijaya Kadam, Khazaeli Mahyar, Jeyachandran Devi, Desouki Mohamed Mokhtar

机构信息

Department of Pathology, University at Buffalo, Buffalo, NY 14260, USA.

Department of Pathology, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14203, USA.

出版信息

Cancers (Basel). 2022 Mar 7;14(5):1352. doi: 10.3390/cancers14051352.

Abstract

Next generation sequencing (NGS) has facilitated the identification of molecularly targeted therapies. However, clinical utility is an emerging challenge. Our objective was to identify the clinical utility of NGS testing in gynecologic cancers. A retrospective review of clinico-pathologic data was performed on 299 gynecological cancers where NGS testing had been performed to identify (1) recognition of actionable targets for therapy, (2) whether the therapy changed based on the findings, and (3) the impact on survival. High grade serous carcinoma was the most common tumor (52.5%). The number of genetic alterations ranged from 0 to 25 with a mean of 2.8/case. The most altered genes were and . Among 299 patients, 100 had actionable alterations (79 received a targeted treatment (Group1), 29 did not receive treatment (Group 2), and there were no actionable alterations in 199 (Group3). The death rate in groups 1, 2 and 3 was 54.4%, 42.8% and 50.2%, with an average survival of 18.6, 6.6 and 10.8 months, respectively ( = 0.002). In summary, NGS testing for gynecologic cancers detected 33.4% of actionable alterations with a high clinical action rate. Along with the high clinical utility of NGS, testing also seemed to improve survival for patients who received targeted treatment.

摘要

下一代测序(NGS)推动了分子靶向治疗的识别。然而,临床应用是一个新出现的挑战。我们的目标是确定NGS检测在妇科癌症中的临床应用。对299例接受NGS检测的妇科癌症患者的临床病理数据进行了回顾性分析,以确定(1)可用于治疗的靶点的识别情况,(2)治疗是否根据检测结果发生改变,以及(3)对生存的影响。高级别浆液性癌是最常见的肿瘤(52.5%)。基因改变的数量范围为0至25个,平均每个病例2.8个。改变最多的基因是 和 。在299例患者中,100例有可用于治疗的改变(79例接受了靶向治疗(第1组),29例未接受治疗(第2组),199例没有可用于治疗的改变(第3组)。第1、2和3组的死亡率分别为54.4%、42.8%和50.2%,平均生存期分别为18.6、6.6和10.8个月( = 0.002)。总之,妇科癌症的NGS检测发现了33.4%的可用于治疗的改变,临床应用率较高。除了NGS具有较高的临床应用价值外,检测似乎还改善了接受靶向治疗患者的生存情况。

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