利用反射检测靶向新一代测序对切除的非鳞状非小细胞肺癌进行EGFR状态评估。

IF 3.4 3区 医学 Q1 PATHOLOGY Virchows Archiv Pub Date : 2024-12-31 DOI:10.1007/s00428-024-04010-4
Samantha Goffinet, Christophe Bontoux, Simon Heeke, Federica Pezzuto, Marius Ilié, Elodie Long-Mira, Sandra Lassalle, Olivier Bordone, Virginie Lespinet, Maryline Allégra, Virginie Tanga, Christelle Bonnetaud, Georges Garnier, Jonathan Benzaquen, Charlotte Cohen, Victoria Ferrari, Charles Marquette, Jean Philippe Berthet, Fiorella Calabrese, Paul Hofman, Véronique Hofman
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引用次数: 0

摘要

EGFR状态评估对于IB-IIIA期非鳞状非小细胞肺癌(NS-NSCLC)切除的辅助决策是强制性的。单基因RT-PCR与下一代测序(NGS)是否应该用于这种评估尚存疑问。此外,共同发生的突变对肿瘤行为有影响,并可能影响未来的治疗决策。我们的目的是描述反射性NGS和RT-PCR评价egfr突变NS-NSCLC的临床病理特征和分子特征,以及预后因素,并比较两种方法的结果。我们回顾性地纳入并收集了2005年至2024年间在我们机构诊断的切除egfr突变的NS-NSCLC患者的数据。其他中心的病例也包括在内。采用靶向NGS和RT-PCR对肿瘤进行分析。共选择153例患者。术后中位随访时间为22个月。与NGS相比,RT-PCR检测EGFR突变的正确率为88%。常见的单个EGFR突变(L858R/del19)在117/153(77%)病例中发现;22/153例(14%)和14/153例(9%)分别有罕见的单一和复合EGFR突变。63/153例(41%)患者共发生突变,其中43/63例(68%)共突变患者发生TP53突变。与EGFR突变型/ tp53野生型肿瘤相比,EGFR/ tp53突变型肿瘤与PD-L1阳性表达相关(62% vs 39%;p = 0.006)。EGFR外显子18突变患者和TP53外显子7共突变患者的中位无事件生存期(EFS)较短。对于切除的NS-NSCLC,应该使用靶向NGS反射测试系统地评估EGFR状态,因为未来的治疗决策可能很快考虑整合共发生突变的存在。
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EGFR status assessment using reflex testing targeted next-generation sequencing for resected non-squamous non-small cell lung cancer.

EGFR status assessment is mandatory for adjuvant decision-making of resected stage IB-IIIA non-squamous non-small cell lung cancer (NS-NSCLC). It is questionable whether single-gene RT-PCR versus next-generation sequencing (NGS) should be used for this evaluation. Moreover, co-occurring mutations have an impact on tumor behavior and may influence future therapeutic decision-making. We aimed to describe the clinico-pathological and molecular features, as well as the prognostic factors of resected EGFR-mutant NS-NSCLC evaluated with reflex NGS and RT-PCR, so as to compare the results of the two methods. We retrospectively included and collected data from patients with resected EGFR-mutant NS-NSCLC diagnosed in our institution between 2005 and 2024. Additional cases from another center were included. Tumors were analyzed using targeted NGS and RT-PCR. A total of 153 patients were selected. The median follow-up after surgery was 22 months. The positive percent agreement of RT-PCR compared to NGS for the detection of an EGFR mutation was 88%. Common single EGFR mutations (L858R/del19) were observed in 117/153 (77%) cases; 22/153 (14%) and 14/153 (9%) cases had uncommon single and compound EGFR mutations, respectively. 63/153 (41%) patients had a co-occurring mutation, including a TP53 mutation in 43/63 (68%) co-mutated patients. EGFR/TP53-mutant tumors were associated with positive PD-L1 expression compared to EGFR-mutant/TP53-wild-type tumors (62% vs 39%; p = 0.006). Shorter median event-free survival (EFS) in patients with an EGFR exon 18 mutation and those with TP53 exon 7 co-mutation was recorded. The EGFR status should be systematically evaluated using targeted NGS reflex testing for resected NS-NSCLC since future therapeutic decision-making could soon consider integrating the presence of co-occurring mutations.

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来源期刊
Virchows Archiv
Virchows Archiv 医学-病理学
CiteScore
7.40
自引率
2.90%
发文量
204
审稿时长
4-8 weeks
期刊介绍: Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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