Neonatal Congenital Pulmonary Airway Malformation Associated with Mucinous Adenocarcinoma and KRAS Mutations
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In brief
In brief
This retrospective study of 210 surgically treated CPAM cases identified three neonatal males with type 1 CPAM containing mucinous adenocarcinoma and somatic KRAS mutations, suggesting in utero carcinogenesis. All three patients underwent early resection for respiratory distress and remain disease-free without adjuvant therapy, highlighting the importance of discussing malignancy risk in prenatal counseling.
Written by the GCMD Library team from the article.
Aim of the study
Congenital pulmonary airway malformation (CPAM) has an estimated prevalence in Europe of 1.06/10,000 live births with most being detected using maternal ultrasound screening. Malignant transformation is a possible complication though its prevalence is unknown and previous reports have usually been in older children. We reviewed our experience to identify those CPAM cases associated with malignancy.
Methods
Single centre retrospective review of all surgically treated children with antenatally-detected CPAM, with detailed review of cases associated with malignancy.
Main results
210 infants and children underwent resectional surgery for CPAM during the period 1994-2020, with 43(20.5%) undergoing surgery during the neonatal period. Of these, 3 infants, all males, had undergone surgical resection for respiratory distress (at 3, 4 and 8 days of life) with subsequent histological confirmation as Stocker type 1 CPAM with clear foci of mucinous adenocarcinoma. Subsequent genetic analysis showed somatic KRAS (Kirsten Rat Sarcoma Viral Oncogene) mutations in all three cases. No adjuvant treatment was required, and all are asymptomatic and disease-free at most recent follow-up (8 months, 2 and 6 years)
Conclusions
This series highlights a clear association between type 1 CPAM and mucinous adenocarcinoma with KRAS point mutations, suggesting that the process of carcinogenesis has the potential to start in utero. This underlines the importance of discussing the risk of malignancy in prenatal and postnatal counselling.