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妇科癌症临床实践中分子检测的影响。

Impact of molecular testing in clinical practice in gynecologic cancers.

机构信息

Department of Obstetrics & Gynecology, Division of Gynecologic Oncology, Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, Florida.

University of Miami Miller School of Medicine, Miami, Florida.

出版信息

Cancer Med. 2019 May;8(5):2013-2019. doi: 10.1002/cam4.2064. Epub 2019 Mar 7.

Abstract

BACKGROUND

With the growing understanding of the molecular and genetic profiles of cancers, targeted treatments are increasingly utilized in personalized cancer care. The objective of this study was to determine how these advances have translated into practice by examining how often molecular profiling of gynecological tumors led to treatment changes.

METHODS

We identified women with gynecological cancers at our institution who had molecular tumor testing performed from November 2014 to June 2017. Clinicopathologic data were extracted from medical records. We determined (a) if molecular profiling identified actionable targets for which therapy is available, and (b) whether the patient's treatment course changed as a result of molecular profiling. Chi-square, Wilcoxon rank-sum, and Fisher's exact tests were used with a P < 0.05 considered statistically significant.

RESULTS

We identified 152 patients with gynecologic cancers who underwent molecular profiling. Of the 152 patients, 116 (76.3%) had actionable mutations identified, with 41 (35.3%) patients having a treatment change. Stratified by cancer type, molecular profiling most frequently identified an actionable target in patients with endometrial cancer (73.6%). Changes in treatment occurred most frequently in patients with endometrial cancer, 22 (56.4%), and ovarian cancers, 16 (39%), as compared to patients with cervical and vulvar cancer (P = 0.02). Of those patients who received a change in treatment, 39 patients (95.1%) received an FDA-approved therapeutic agent, while two patients (4.8%) were enrolled in a clinical trial.

CONCLUSION

Molecular profiling in gynecologic cancers often identified at least one actionable mutation; however, only in a minority of these cases was the course of treatment changed. Further studies are needed to elucidate optimal timing for testing to best utilize actionable information.

摘要

背景

随着人们对癌症分子和遗传特征的认识不断深入,靶向治疗越来越多地应用于癌症的个体化治疗。本研究旨在通过考察妇科肿瘤的分子谱分析在多大程度上导致了治疗方案的改变,来确定这些进展在实践中的转化情况。

方法

我们在本机构中确定了患有妇科癌症的女性患者,这些患者在 2014 年 11 月至 2017 年 6 月期间进行了肿瘤分子检测。从病历中提取临床病理数据。我们确定了:(a)分子谱分析是否确定了有治疗方法的可操作靶点,以及(b)患者的治疗方案是否因分子谱分析而发生改变。使用卡方检验、Wilcoxon 秩和检验和 Fisher 精确检验,P 值<0.05 认为有统计学意义。

结果

我们确定了 152 名患有妇科癌症的患者进行了分子谱分析。在 152 名患者中,116 名(76.3%)患者发现了可操作的突变,其中 41 名(35.3%)患者的治疗方案发生了改变。按癌症类型分层,子宫内膜癌患者最常发现可操作的靶点(73.6%)。治疗方案的改变最常发生在子宫内膜癌患者(22 例,56.4%)和卵巢癌患者(16 例,39%),而宫颈癌和外阴癌患者则较少(P=0.02)。在接受治疗方案改变的 39 名患者中,39 名(95.1%)患者接受了 FDA 批准的治疗药物,而 2 名(4.8%)患者参加了临床试验。

结论

妇科癌症的分子谱分析通常可以确定至少一个可操作的突变,但只有少数情况下治疗方案发生了改变。需要进一步的研究来阐明最佳的检测时机,以充分利用可操作的信息。

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Inherited Cancer in the Age of Next-Generation Sequencing.下一代测序时代的遗传性癌症
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CA Cancer J Clin. 2018 Jan;68(1):7-30. doi: 10.3322/caac.21442. Epub 2018 Jan 4.
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Gynecol Oncol. 2017 Aug;146(2):305-313. doi: 10.1016/j.ygyno.2017.05.011. Epub 2017 May 20.
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Defining precision: The precision medicine initiative trials NCI-MPACT and NCI-MATCH.精准医学的定义:精准医学计划的NCI-MPACT和NCI-MATCH试验。
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