Clinicopathological and molecular features of lung cancers associated with cystic airspaces: an analysis of 34 cases.

BACKGROUND

Lung cancer associated with cystic airspaces (LCCA) is a rare occurrence and frequently remains undetected in imaging tests. The diagnosis and treatment of this disease are often delayed due to the lack of comprehension. We aimed to clarify clinicopathological characteristics and investigate the molecular features of LCCA patients.

METHODS

We conducted a retrospective study of 34 patients diagnosed with LCCA between March 2017 and March 2023. The LCCA were classified into four types by morphology based on preoperative CT scans. DNA samples from the patients were analyzed through genetic profiling using next-generation sequencing (NGS) that targeted 437 cancer-related genes. We compared our cohort with a publicly available database of typical lung adenocarcinoma (LUAD) among Asian patients.

RESULTS

Type I (50.0%) was the most prevalent type, followed by type IV (44.1%). The proportions of type II and III were consistently low, each representing 2.9%. Among them, 33 patients were diagnosed with LUAD. The genes most frequently mutated in cystic LUAD were (61.8%), (20.6%), and (14.7%) We observed that (47.4%), (36.1%) and (22.5%) were the top three mutated genes in typical LUAD. By comparing the gene mutation rates between the two cohorts, we identified that the mutation rates of , , , and genes were significantly higher in cystic LUAD compared to cystic LUAD.

CONCLUSIONS

Our retrospective study has provided useful information about the clinical and molecular characteristics of LCCA, enhancing our understanding of its features for medical research and practice.