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

PeerJ

Rongguo Lu¹  Wenjun Mao¹  Yijun He¹  Ruo Chen¹  Feng Liu¹  Mingfeng Zheng¹  Shengfei Wang¹  Huizhu Song²  Dan You² 

[1] Department of Cardiothoracic Surgery, The Affiliated Wuxi People’s Hospital of Nanjing Medical University, Wuxi, Jiangsu, China;Department of Pharmacy, The Affiliated Wuxi People’s Hospital of Nanjing Medical University, Wuxi,Jiangsu, China;

关键词: Lung adenocarcinoma;    Germline mutation;    Ground glass opacity;    Non-smoking;   

DOI  :  10.7717/peerj.12048

来源: DOAJ

【 摘 要 】

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 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. 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.

【 授权许可】

Unknown