Legras Antoine, Roussel Hélène, Mangiameli Giuseppe, Arame Alex, Grand Bertrand, Pricopi Ciprian, Badia Alain, Gibault Laure, Badoual Cécile, Fabre Elizabeth, Laurent-Puig Pierre, Blons Hélène, Le Pimpec-Barthes Françoise
Thoracic Surgery and Lung Transplantation Department, Georges Pompidou European Hospital, Assistance Publique Hôpitaux de Paris, 20 rue Leblanc, 75908, Paris Cedex 15, France.
INSERM UMR-S1147, CNRS SNC 5014, Saints-Pères Research Center, Paris-Descartes University, Sorbonne Paris Cité University, Paris, France.
Pathol Oncol Res. 2019 Jan;25(1):319-325. doi: 10.1007/s12253-017-0352-x. Epub 2017 Nov 6.
Mutational heterogeneity could explain different metastatic patterns among IIIA-N2 lung cancer and influence prognosis. The identification of subclonal mutations using deep sequencing to evaluate the degree of molecular heterogeneity may improve IIIA-N2 classification. The aim of this prospective study was to assess mutational and immunohistochemical characteristics in primary tumours and involved lymph nodes (LN) in operated patients. Four patients operated for primary lung carcinoma and unisite N2 mediastinal involvement were consecutively selected. Samples (tumour and paired LN) were analysed for PD1, PD-L1 and CD8 immunostaining. Somatic mutation testing was performed by deep targeted next generation sequencing (NGS), with the AmpliSeq™ Colon and Lung Cancer Panel (LifeTechnology). A total of 9 primary lung cancer samples and 10 LN stations were analysed. For each cancer, we found 2 mutations, with allelic ratios from 3% to 72%. Mutational patterns were heterogeneous for 2 primary tumours. In 3 cases, mutations observed in the primary tumour were not found in LN metastases (ALK, FGFR3, MET). Inversely, in 1 case, a KRAS mutation was found in LN but not in the primary tumour. All primary tumours were found PD-L1 positive while CD8+ T cells infiltrate varied. In the different examined LN samples, PD-L1 expression, CD8+ and PD1+ T cells infiltrate were not similar to the primary tumour. This preliminary prospective study shows the diversity of intra-tumour and LN mutations using routinely-used targeted NGS, concerning both mutated gene and allelic ratio. Further studies are needed to evaluate its prognostic impact.
突变异质性可以解释IIIA-N2期肺癌的不同转移模式并影响预后。使用深度测序鉴定亚克隆突变以评估分子异质性程度可能会改善IIIA-N2期的分类。这项前瞻性研究的目的是评估接受手术治疗患者的原发性肿瘤和受累淋巴结(LN)中的突变及免疫组化特征。连续选择了4例因原发性肺癌和单部位N2纵隔受累而接受手术的患者。对样本(肿瘤和配对的LN)进行PD1、PD-L1和CD8免疫染色分析。通过深度靶向新一代测序(NGS),使用AmpliSeq™结肠和肺癌检测板(LifeTechnology)进行体细胞突变检测。共分析了9个原发性肺癌样本和10个LN站。对于每例癌症,我们发现了2个突变,等位基因比例为3%至72%。2例原发性肿瘤的突变模式是异质性的。在3例中,在原发性肿瘤中观察到的突变在LN转移灶中未发现(ALK、FGFR3、MET)。相反,在1例中,在LN中发现了KRAS突变,但在原发性肿瘤中未发现。所有原发性肿瘤均发现PD-L1阳性,而CD8+T细胞浸润情况各不相同。在不同检查的LN样本中,PD-L1表达、CD8+和PD1+T细胞浸润与原发性肿瘤不同。这项初步的前瞻性研究显示,使用常规靶向NGS检测,肿瘤内和LN突变在突变基因和等位基因比例方面都具有多样性。需要进一步研究以评估其预后影响。