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Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

ABSTRACT: Tumor mutation burden (TMB) is an independent indicator used to select patients sensitive to immunotherapy. The present study aimed to investigate the clinicopathological and molecular characteristics of patients with hypermutant lung cancer to identify an economical, simple and complementary method for predicting TMB and immunotherapy responses. In total, 1,000 patients with lung cancer were randomly selected, and their samples were submitted to next-generation sequencing, with their TMB status reviewed. The threshold of hypermutation was set to 17.24 mutations (muts)/Mb. The proportion of smokers was higher in the hypermutant cohort (n=67) compared with in the non-hypermutant cohort (n=933; 85.1 vs. 46.6%; P<0.0001). Compared with in the non-hypermutant cohort, the proportion of squamous cell carcinoma cases and small cell lung cancer cases was higher in the hypermutant cohort (22.4 vs. 13.1% and 6.0 vs. 2.6%, respectively). In addition, compared with in the non-hypermutant cohort, mutations in the low-density lipoprotein receptor-related protein 1B were more frequently observed in the hypermutant cohort (67.2 vs. 14.3%; P<0.0001). A similar trend was obtained for all genes tested, except for the EGFR gene. Furthermore, in the hypermutant cohort, the prevalence of microsatellite instability was extremely high (9.0%). The mutation frequency in DNA damage response (DDR) genes was notably higher in the hypermutant cohort, where several DDR-associated genes were enriched, compared with in the non-hypermutant cohort. The enrichment analysis revealed a strong association between mutations in Notch signaling and high TMB. To the best of our knowledge, the present study is the first to comprehensively investigate the clinical and genetic characteristics of patients with hypermutant lung cancer in a Chinese population. The results of the current study suggested that hypermutant lung cancer exerted distinctive clinical and genetic features, which may be used as complementary indicators for screening patients sensitive to immunotherapy.

SUBMITTER: Zhang H

PROVIDER: S-EPMC7933761 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature

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Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang Hongbin H Wang Yuan Y Ji Qiaoxia Q Cai Hongmei H Liang Xiangcun X Xie Jiong J Li Hua H Wang Jun J Zhu Guiyun G Tian Erpeng E Zhu Lingling L Yuan Mingming M Chen Rongrong R Zhao Min M

Oncology letters 20210225 4

Tumor mutation burden (TMB) is an independent indicator used to select patients sensitive to immunotherapy. The present study aimed to investigate the clinicopathological and molecular characteristics of patients with hypermutant lung cancer to identify an economical, simple and complementary method for predicting TMB and immunotherapy responses. In total, 1,000 patients with lung cancer were randomly selected, and their samples were submitted to next-generation sequencing, with their TMB status ...[more]

PMID: 33692861

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Project description:BackgroundWith the emerging radiological techniques and the increasing incidence of adenocarcinoma, the composition and structure of cavitary lung cancer have been significantly changed. The aim of the study was to demonstrate clinicopathological characteristics of solitary cavitary lung cancer which was ≤3 cm.MethodsA case-control study was designed through retrospective data analysis of clinicopathological data of 946 cases with solitary lung cancer smaller than 3 cm. Univariable and multivariable analysis were used to identify the risk factors of cavitation.ResultsCavitary lung cancer occurred more frequently in patients who were elderly (P=0.044), male (P=0.004), who had a smoking history (P=0.018), higher carcinoembryonic antigen (CEA) level (P<0.001), peripheral lesions (P=0.017), solid nodules (P<0.001), spiculation (P=0.003), vascular convergence (P<0.001), air bronchogram (P=0.004), larger tumor size (P<0.001), advanced T stage (P<0.001), lymph node metastasis (P=0.028) and advanced pTNM stage (P=0.004). In addition, cavitary lung cancer was more common in papillary predominant tumors (P=0.017), while noncavitary lung cancer occurred more frequently in AIS/MIA (P=0.002) and lepidic predominant tumors (P<0.001). It was confirmed that cavitation was significantly associated with elderly (P=0.013), male (P=0.003), larger maximum tumor diameter (P<0.001), solid nodules (P<0.001), larger pT size (P=0.016) and advanced pN stage (P=0.036) in multivariable analysis. ROC curves showed that the AUV was greater in maximum tumor diameter than in pT size predicting cavitation (0.71 vs. 0.66). A cut off value of 20.9 mm showed a discriminatory power of cavitation with a sensitivity of 68.7% and a specificity of 71.2%.ConclusionsComparing with noncavitary lung cancer, cavitary lung cancer smaller than 3 cm may have worse prognostic clinical, radiological and pathological characteristics. Especially, cavitary lung cancer present as more solid nodules on CT images and present with more invasive on pathological findings.

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Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Publications

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

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