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利用细胞学细胞块进行实体瘤的靶向测序。

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

机构信息

Department of Pathology, University of Illinois at Chicago, Chicago, Illinois, USA.

Department of Pathology, Laboratory of Genomic Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.

出版信息

Cancer Med. 2023 Feb;12(4):4042-4063. doi: 10.1002/cam4.5261. Epub 2022 Sep 20.

Abstract

BACKGROUND

Targeted sequencing of cytologic samples has significantly increased in recent years. With increasing numbers of clinical trials for variant specific therapeutics, validating a comprehensive assay for cytologic samples has become clinically important.

AIM

For this study, a retrospective review of cytologic cell blocks from fine needle aspirations and fluid specimens was performed.

METHODS

Two hundred twenty six total cases of solid tumor malignancies were identified, of which 120 cases and 20 lymph node negative controls were sequenced for the Oncomine Comprehensive Assay. Cytology and surgical specimen correlation was performed in a subset of cases. Statistical analysis to determine variant concordance was performed.

RESULTS

Within the 117 cases sequenced, a total of 347 pathogenic variants were detected. Of the 117 cases, 32 cases (27.4%) would qualify for FDA approved targeted therapy according to the current guidelines, and an additional 23 cases (19.7%) would qualify for clinical trial based on pathogenic variants detected.

DISCUSSION

With over 27% of cases in our cohort qualifying for some form of targeted therapy, our study shows the importance of providing comprehensive molecular diagnostic options. Despite only half of the cytology cases in the review period having enough material to be sequenced, overall approximately 27% of patients in this cohort would have benefitted from this service.

摘要

背景

近年来,针对细胞学样本的靶向测序显著增加。随着针对特定变异的治疗方法的临床试验数量不断增加,对细胞学样本进行全面检测变得越来越重要。

目的

本研究对细针穿刺和液体标本的细胞学细胞块进行了回顾性分析。

方法

共确定了 226 例实体瘤恶性肿瘤病例,其中 120 例和 20 例淋巴结阴性对照病例进行了 Oncomine 综合检测。对部分病例进行了细胞学和手术标本相关性分析。进行了统计分析以确定变异一致性。

结果

在所测序的 117 例病例中,共检测到 347 个致病性变异。在这 117 例病例中,根据现行指南,有 32 例(27.4%)符合 FDA 批准的靶向治疗标准,另有 23 例(19.7%)符合根据检测到的致病性变异进行临床试验的标准。

讨论

在我们的队列中,超过 27%的病例有资格接受某种形式的靶向治疗,这表明提供全面的分子诊断选择非常重要。尽管回顾性分析中只有一半的细胞学病例有足够的材料进行测序,但总体上,该队列中约 27%的患者将受益于该服务。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cc9d/9972011/e79ffb8cd1e7/CAM4-12-4042-g005.jpg

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