Mucinous adenocarcinoma arising in congenital pulmonary airway malformation: clinicopathological analysis of 37 cases

Wei Chin Chang, Yu Zhi Zhang, Janina L. Wolf, Sergei M. Hermelijn, J. Marco Schnater, Jan H. von der Thüsen, Alexandra Rice, Sylvie Lantuejoul, Bénédicte Mastroianni, Carol Farver, Fiona Black, Sanjay Popat, Andrew G. Nicholson

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)


Aims: Mucinous adenocarcinoma arising in congenital pulmonary airway malformation (CPAM) is a rare complication, with little being known about its natural course. The aims of this article are to describe a series of mucinous adenocarcinomas arising from CPAMs, and present their clinicopathological features, genetics, and clinical outcome. Methods and results: Thirty-seven cases were collected within a 34-year period, and the subtype of adenocarcinoma and CPAM, tumour location, stage, growth patterns, molecular data and follow-up were recorded. The cohort comprised CPAM type 1 (n = 33) and CPAM type 2 (n = 4). Morphologically, 34 cases were mucinous adenocarcinomas (21 in situ; 13 invasive), and three were mixed mucinous and non-mucinous adenocarcinoma. Seventeen cases showed purely extracystic (intra-alveolar) adenocarcinoma, 15 were mixed intracystic and extracystic, and five showed purely intracystic proliferation. Genetically, nine of 10 cases tested positive for KRAS mutations, four with exon 2 G12V mutation and five with exon 2 G12D mutation. Residual disease on completion lobectomy was observed in two cases, and three cases recurred 7, 15 and 32 years after the original diagnosis. Two patients died of metastatic invasive mucinous adenocarcinoma. Conclusions: Most adenocarcinoma that arise in type 1 CPAMs, are purely mucinous, and are early-stage disease. Intracystic proliferation is associated with lepidic growth, an absence of invasion, and indolent behaviour, whereas extracystic proliferation may be associated with more aggressive behaviour and advanced stage. Most cases are cured by lobectomy, and recurrence/residual disease seems to be associated with limited surgery. Long-term follow-up is needed, as recurrence can occur decades later.

Original languageEnglish
Pages (from-to)434-444
Number of pages11
Issue number3
Publication statusPublished - Feb 2021
Externally publishedYes


  • adenocarcinoma
  • congenital pulmonary airway malformation
  • KRAS
  • mucinous
  • prognosis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology


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