WOFAPS 2025 8th World Congress of Pediatric Surgery

Banu Özdemir ¹, Doğu Vurallı Bakkaloğlu ², Tuğba Kalaycı ³, Zeynep Özdemir ⁴, Secil Yuksel ¹, Hakan Kocaman ¹, Başak Erginel ¹

¹ Istanbul University, Istanbul Faculty of Medicine, Department of Pediatric Surgery
² Istanbul Unıversity Istanbul Faculty of Medicine Department of Pathology
³ Istanbul University Istanbul Faculty of Medicine , Department of Medical Genetics
⁴ Ankara Etlik City Hospital, Department of Medical Genetics

Objective: Congenital lung lesions are increasingly being diagnosed prenatally, resulting in a growing population of asymptomatic patients encountered by clinicians. However, the etiopathogenesis of these lesions remains unclear, and their malignant potential is not fully understood. We aimed to investigate the genetic alterations in congenital pulmonary airway malformations (CPAM) and assess their potential for malignant transformation.

Methods: This study included patients under 18 years of age who underwent surgery for congenital lung lesions at our institution between 2010 and 2023. Demographic and clinical characteristics were retrospectively analyzed. Lung resection specimens of patients diagnosed with CPAM were re-evaluated, and tissue sections were obtained. For patients operated on before 2018, real-time PCR was performed using paraffin-embedded tissue blocks, while next-generation sequencing was employed for cases after 2018 to detect mutations in the KRAS gene.

Results: Among 35 patients operated on for CPAM, mutations in the KRAS gene were detected in 8 patients (22.8%). The majority of cases with mutations were diagnosed with type 1 CPAM, and their mean age at surgery was significantly lower (p<0.05). No evidence of malignant transformation was observed in any case. The antenatal diagnosis rate was higher among patients with type 1 CPAM, and these patients underwent surgery at an earlier age compared to those without a prenatal diagnosis. Symptomatic patients were more likely to undergo emergency surgery, had a younger average age at operation, and experienced higher rates of postoperative complications; all of these differences were statistically significant (p<0.05).

Conclusions: The presence of KRAS mutation alone may not serve as a reliable prognostic marker. The long-term implications and malignant potential of these mutations in pediatric lung tissue warrant further investigation in larger cohorts. Routine inclusion of genetic analysis alongside histopathological evaluation is recommended to improve diagnostic and prognostic precision in congenital lung malformations.