Abstract
Lung cancer arises from the accumulation of genetic mutations, usually in exons. A recent study identified indel mutations in the noncoding region of surfactant-encoding genes in lung adenocarcinoma cases. In this study, we recruited 94 patients with 113 lung cancers (88 adenocarcinomas, 16 squamous cell carcinomas, and nine other histologies) who had undergone surgery in our department. A cancer panel was designed in-house for analyzing the noncoding regions, and targeted sequencing was performed. Indels in the noncoding region of surfactant-encoding genes were identified in 29/113 (25.7%) cases and represent the precise cell of origin for the lung cancer, irrespective of histological type and/or disease stage. In clinical practice, these indels may be used as clonal markers in patients with multiple cancers and to determine the origin of cancer of unknown primary site.
Highlights
Large-scale sequencing of human tumor samples has implicated unexpected pathways and mutational processes in carcinogenesis [1,2]
We identified indels in the noncoding region of surfactant-encoding genes in approximately 25%
Of lung adenocarcinoma, squamous cell carcinoma, pleomorphic carcinoma, and small-cell carcinoma cases. These indels indicate the precise cell of origin of lung cancer
Summary
Large-scale sequencing of human tumor samples has implicated unexpected pathways and mutational processes in carcinogenesis [1,2]. The growing power of whole-genome sequencing enables the discovery of significantly altered loci in noncoding sequences. In 2017, Imielinski et al reported the presence of noncoding insertions/deletions (indels) in certain cancer types, which is reportedly a prevalent and hitherto unrecognized mutational process linking cellular lineage and cancer [5]. Imielinski et al analyzed whole-genome sequences of lung adenocarcinoma using a somatic burden test based on Gamma–Poisson regression for the analysis of both indel and single nucleotide variant somatic mutations [5]. They found recurrent somatic indel mutations in noncoding
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