Genomic characteristics of invasive mucinous adenocarcinoma of the lung with multiple pulmonary sites of involvement

• DOI: 10.1038/s41379-021-00872-0
• Publication Date: 2021-07-21T06:03:06Z
• Authors: Moonsik Kim; Jinha Hwang; Kyung A Kim; Sohyun Hwang; Hye-Jeong Lee; Ji Ye Jung; Jin Gu Lee; Yoon Jin Cha; Hyo Sup Shim
• Keywords: 570; 0303 health sciences; Lung Neoplasms; 610; Adenocarcinoma of Lung; Genomics; Adenocarcinoma, Mucinous; Article; 3. Good health; 03 medical and health sciences; Mutation; Humans; Lung

Invasive mucinous adenocarcinoma (IMA) of the lung frequently presents with diffuse pneumonic-type features or multifocal lesions, which are regarded as a pattern intrapulmonary metastases. However, genomics IMAs have not been well studied. We performed whole exome sequencing on samples taken from 2 to 5 regions in seven patients synchronous (24 total). Early initiating driver events, such KRAS, NKX2-1, TP53, ARID1A mutations, clonal mutations and were present all each patient. The tumor mutational burden was low (mean: 1.13/mega base), but further analyses suggested intra-tumor heterogeneity. signature analysis found that predominantly associated endogenous process (signature 1), APOBEC activity (signatures 13), defective DNA mismatch repair 6), related smoking signature. synchronously located bilateral lower lobes two background usual interstitial pneumonia had different mutation types, suggesting they double primaries. In conclusion, genomic evidence this study indicated spread IMAs, although can occur multicentric origins pneumonia. exhibited heterogeneous landscape despite somatic burden. Further studies warranted determine clinical significance characteristics expanded cohorts.