Pulmonary Malignancies in Adults With Congenital Lung Malformations: A Scoping Review

Abstract

We aimed to synthesize current knowledge on pulmonary malignancies in adults with congenital lung malformations (CLMs), focusing on clinical presentation, treatment approaches, and outcomes.

We performed a scoping review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews. A systematic search was conducted in January 2025 across three databases. References were included if they described patients aged 17 years or older with a CLM and a coexisting pulmonary malignancy. Data were extracted on patient demographics, CLM and malignancy type, symptoms, treatment, and outcomes. Findings were summarized using descriptive statistics and narrative synthesis.

A total of 65 references met the inclusion criteria, comprising 85 adult patients with CLM and pulmonary malignancies. Pulmonary adenocarcinoma was most frequently observed (66%), particularly within congenital pulmonary airway malformations (89% of malignancies in that subgroup). The median age at lung cancer diagnosis was 43.5 years. Respiratory symptoms were the most common presentation (67%), with 18% of patients being asymptomatic at the time of pulmonary malignancy diagnosis. Surgical resection was performed in 94% of patients, with lobectomy being the most frequently performed surgery type (68% of operated patients). More than half of malignancies (57%) were definitively diagnosed postoperatively. Follow-up data were incomplete; however, most reported patients were alive without disease recurrence at last follow-up with a median follow-up time of 14 months.

The young median age at cancer diagnosis, the presence of pulmonary malignancies in asymptomatic patients, and the high proportion of malignancy diagnoses established only postoperatively underscore the need for proactive and tailored surveillance strategies in adults with known CLM. A multidisciplinary approach with longitudinal follow-up is crucial to refine risk assessment and optimize long-term care.