Is There a Role for Large Exome Sequencing in the Management of Metastatic Non-Small Cell Lung Cancer: A Brief Report of Real Life.
Is There a Role for Large Exome Sequencing in the Management of Metastatic Non-Small Cell Lung Cancer: A Brief Report of Real Life.
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DOI：
10.3389/fonc.2022.863057
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发表时间：
2022
影响因子：
4.7
通讯作者：
Boidot R
中科院分区：
文献类型：
--
作者：
Dalens L;Niogret J;Kaderbhai CG;Boidot R
非小细胞肺癌（NSCLC）是全球癌症死亡的主要原因之一。随着靶向治疗的兴起，寻找分子异常正成为肺癌管理的关键一步。全外显子组测序（WES）正在迅速发展，现在可以在常规护理中使用。然而，与较小的基因组相比，其价值仍不清楚。我们对2015年3月至2018年1月期间转诊至Georges-François Leclerc癌症中心（CGFL）分子肿瘤委员会的所有281例肺癌患者进行了回顾性分析。我们将标准分子检测的结果与对每位患者进行的WES结果进行了比较。WES突出显示的突变比较小的小组多得多（在82个基因中发现了突变，而较小的小组最多在12个基因中发现了突变）。根据ESCAT分类，这些突变中的大多数为III或IV类。外显子组敏感性也显示出局限性，特别是对常见突变（包括经典EGFR突变）的效率略低。在转移性NSCLC的初始诊断中，小的靶向组可能优于WES。它们对识别最常见突变基因（如ALK、BRAF、EGFR、ERBB 2、KRAS或MET）上的突变更敏感。较大的面板或WES可能有助于疾病进展，通过突出显示较小的靶向面板未涵盖的不常见但潜在的靶向突变来扩大治疗可能性。
Non-small-cell lung cancer (NSCLC) is one of the main causes of death by cancer worldwide. With the rise of targeted therapies, the search for molecular abnormalities is becoming a crucial step in the management of lung cancer. Whole exome sequencing (WES) is developing rapidly and is now accessible in routine care. However, its value, compared to smaller gene panels, remains unclear. We conducted a retrospective analysis of all 281 patients with lung carcinoma referred to the Molecular Tumor Board of the Georges-François Leclerc Cancer Center (CGFL) between March 2015 and January 2018. We compared the results of standard molecular testing with the results of WES performed on every patient. WES highlighted many more mutations than smaller panels (mutations were found in 82 genes, while smaller panels found, at the most, mutations in 12 genes). Most of these mutations were class III or IV according to the ESCAT classification. The exome sensitivity also showed limitations, notably a slightly lower efficiency for common mutations, including classical EGFR mutations. Small, targeted panels could be preferred over WES at the initial diagnosis of metastatic NSCLC. They are more sensitive for the identification of mutations on the most frequently mutated genes, such as ALK, BRAF, EGFR, ERBB2, KRAS or MET. Larger panels or WES could be useful at disease progression, to enlarge treatment possibilities by highlighting uncommon but potentially targetable mutations that are not covered by smaller, targeted panels.
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