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Background <p>Congenital pulmonary airway malformation (CPAM) is the most common congenital lung disorder. Atypical adenomatous hyperplasia (AAH) is a recognized precursor of lung adenocarcinoma. The co-occurrence of CPAM and AAH is exceedingly rare in pediatric patients.</p> Case presentation <p>We present a case of a five-year-old girl who had multiple cystic lesions in the left upper lobe and successfully underwent video-assisted thoracoscopic surgery (VATS). Histologically, the cystic lesions exhibited the typical characteristics of CPAM type 1, and an area of AAH measuring approximately 2&#xa0;mm was incidentally identified. Next-generation sequencing (NGS) identified the <i>EGFR</i> exon 20 insertion (ex20ins) mutation. The patient remained well 13 months after resection and did not require additional treatment.</p> Conclusions <p>We report an extremely rare case of CPAM and AAH with <i>EGFR</i> mutation in a child. The oncogenic driver mutation <i>EGFR</i> may play a potential role in early lung adenocarcinogenesis in pediatric patients. Further studies with a larger number of cases and longer follow-up are required.</p>

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An extremely rare case of congenital pulmonary airway malformation (CPAM) and atypical adenomatous hyperplasia (AAH) with EGFR mutation in a five-year-old girl

  • 期刊论文

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  • 发表日期：

    2026年7月9日

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  • Xiaoyu Liu,
  • Cuomu Zhaxi,
  • Siyu Yang,
  • Lili Jiang,
  • Ping Zhou

摘要

Background

Congenital pulmonary airway malformation (CPAM) is the most common congenital lung disorder. Atypical adenomatous hyperplasia (AAH) is a recognized precursor of lung adenocarcinoma. The co-occurrence of CPAM and AAH is exceedingly rare in pediatric patients.

Case presentation

We present a case of a five-year-old girl who had multiple cystic lesions in the left upper lobe and successfully underwent video-assisted thoracoscopic surgery (VATS). Histologically, the cystic lesions exhibited the typical characteristics of CPAM type 1, and an area of AAH measuring approximately 2 mm was incidentally identified. Next-generation sequencing (NGS) identified the EGFR exon 20 insertion (ex20ins) mutation. The patient remained well 13 months after resection and did not require additional treatment.

Conclusions

We report an extremely rare case of CPAM and AAH with EGFR mutation in a child. The oncogenic driver mutation EGFR may play a potential role in early lung adenocarcinogenesis in pediatric patients. Further studies with a larger number of cases and longer follow-up are required.