Germline mutation analyses of malignant ground glass opacity nodules in non-smoking lung adenocarcinoma patients.

BACKGROUND

Germline mutations play an important role in the pathogenesis of lung cancer. Nonetheless, research on malignant ground glass opacity (GGO) nodules is limited.

METHODS

A 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.

RESULTS

There were seven potentially deleterious germline mutations. NM_001184790:exon8: c.C1070T in , NM_001170721:exon4:c.C392T in and NM_001127221:exon46: c.G6587A in were present in three cases each; rs756875895 frameshift in , NM_005732: exon13:c.2165_2166insT in and NM_001142316:exon2:c.G203C in , were present in two cases each; one variant was present in .

CONCLUSIONS

Our 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.