Abstract
BackgroundGermline mutations play an important role in the pathogenesis of lung cancer. Nonetheless, research on malignant ground glass opacity (GGO) nodules is limited.MethodsA total of 13 participants with malignant GGO nodules were recruited in this study. Peripheral blood was used for exome sequencing, and germline mutations were analyzed using InterVar. The whole exome sequencing dataset was analyzed using a filtering strategy. KOBAS 3.0 was used to analyze KEGG pathway to further identify possible deleterious mutations.ResultsThere were seven potentially deleterious germline mutations. NM_001184790:exon8: c.C1070T in PARD3, NM_001170721:exon4:c.C392T in BCAR1 and NM_001127221:exon46: c.G6587A in CACNA1A were present in three cases each; rs756875895 frameshift in MAX, NM_005732: exon13:c.2165_2166insT in RAD50 and NM_001142316:exon2:c.G203C in LMO2, were present in two cases each; one variant was present in NOTCH3.ConclusionsOur results expand the germline mutation spectrum in malignant GGO nodules. Importantly, these findings will potentially help screen the high-risk population, guide their health management, and contribute to their clinical treatment and determination of prognosis.
Highlights
Though therapeutic advances have been made using targeted therapy and immunotherapy, lung cancer continues to be the most common cause of cancer-related deaths worldwide (Siegel, Miller & Jemal, 2015)
The majority of lung cancers are caused by somatic mutations that accumulate with age and germline mutations could explain a predisposition to cancer development
Five cases were adenocarcinoma in situ, four were invasive, and three were minimally invasive
Summary
Though therapeutic advances have been made using targeted therapy and immunotherapy, lung cancer continues to be the most common cause of cancer-related deaths worldwide (Siegel, Miller & Jemal, 2015). The majority of lung cancers are caused by somatic mutations that accumulate with age and germline mutations could explain a predisposition to cancer development. Germline mutation analyses of malignant ground glass opacity nodules in non-smoking lung adenocarcinoma patients. Germline mutations play an important role in the pathogenesis of lung cancer. Research on malignant ground glass opacity (GGO) nodules is limited. A total of 13 participants with malignant GGO nodules were recruited in this study. There were seven potentially deleterious germline mutations. Our results expand the germline mutation spectrum in malignant GGO nodules. These findings will potentially help screen the high-risk population, guide their health management, and contribute to their clinical treatment and determination of prognosis
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