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下一代测序在晚期乳腺癌和妇科癌症中的应用。

The Utility of Next-Generation Sequencing in Advanced Breast and Gynecologic Cancers.

机构信息

Department of Pathology, Presbyterian University Hospital, Pittsburgh, PA, USA.

Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA.

出版信息

Am J Clin Pathol. 2021 Aug 4;156(3):455-460. doi: 10.1093/ajcp/aqaa256.

Abstract

OBJECTIVES

Next-generation sequencing (NGS) has the potential to identify genetic alterations that are actionable with targeted therapy. Our objective was to identify the impact of NGS testing on advanced breast and gynecologic malignancies.

METHODS

A retrospective review of 108 patients who underwent NGS testing between 2015 and 2019 was performed. The NGS clinical action rate was calculated based on documentation of positive clinical action taken in cases with an actionable NGS result.

RESULTS

The 108 specimens tested included 35 breast cancers and 73 gynecologic malignancies, with most of the testing performed at Foundation Medicine (90%). Actionable mutation(s) were identified in 79 (73%) of 108 cases. The overall clinical action rate of NGS testing was 38% (30 of 79 cases). Overall, 47 (44%) of 108 patients died, all succumbing to disease. The average survival was 10.9 months. The survival difference between patients with actionable NGS result and targeted treatment, actionable NGS result but no targeted treatment, and patients with nonactionable NGS result was not significant (log-rank test, P = .5160).

CONCLUSIONS

NGS testing for advanced breast and gynecologic cancers at our institution has a 38% clinical action rate. However, the increased clinical action rate over the years did not translate into improved survival.

摘要

目的

下一代测序(NGS)有可能识别出可通过靶向治疗的遗传改变。我们的目的是确定 NGS 检测对晚期乳腺和妇科恶性肿瘤的影响。

方法

对 2015 年至 2019 年间进行 NGS 检测的 108 例患者进行回顾性研究。根据有明确可采取靶向治疗的 NGS 结果的病例中阳性临床行动的记录,计算 NGS 临床行动率。

结果

检测的 108 个标本包括 35 例乳腺癌和 73 例妇科恶性肿瘤,其中大多数检测是在 Foundation Medicine 进行的(90%)。在 108 例病例中,有 79 例(73%)确定了有活性的突变。NGS 检测的总体临床行动率为 38%(30/79 例)。总的来说,108 例患者中有 47 例(44%)死亡,均死于疾病。平均生存时间为 10.9 个月。有活性的 NGS 结果和靶向治疗、有活性的 NGS 结果但无靶向治疗、以及无活性的 NGS 结果的患者之间的生存差异无统计学意义(对数秩检验,P=0.5160)。

结论

我们机构对晚期乳腺和妇科癌症进行的 NGS 检测有 38%的临床行动率。然而,多年来临床行动率的增加并没有转化为生存的改善。

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