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Neonatal congenital pulmonary airway malformation associated with mucinous adenocarcinoma and KRAS mutations.
- Source :
-
Journal of pediatric surgery [J Pediatr Surg] 2022 Nov; Vol. 57 (11), pp. 520-526. Date of Electronic Publication: 2021 Dec 25. - Publication Year :
- 2022
-
Abstract
- 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.<br />Methods: Single centre retrospective review of all surgically treated children with antenatally-detected CPAM, with detailed review of cases associated with malignancy.<br />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.<br />Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.<br /> (Copyright © 2021 Elsevier Inc. All rights reserved.)
- Subjects :
- Female
Humans
Male
Mutation
Pregnancy
Proto-Oncogene Proteins p21(ras) genetics
Ultrasonography
Adenocarcinoma, Mucinous genetics
Adenocarcinoma, Mucinous surgery
Cystic Adenomatoid Malformation of Lung, Congenital diagnosis
Cystic Adenomatoid Malformation of Lung, Congenital genetics
Cystic Adenomatoid Malformation of Lung, Congenital surgery
Subjects
Details
- Language :
- English
- ISSN :
- 1531-5037
- Volume :
- 57
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Journal of pediatric surgery
- Publication Type :
- Academic Journal
- Accession number :
- 34980466
- Full Text :
- https://doi.org/10.1016/j.jpedsurg.2021.12.018