Sclerosing Pneumocytoma of the Lungs Arising in a Child With PTEN Mutation

Pediatr Dev Pathol. 2019 Nov-Dec;22(6):579-583. doi: 10.1177/1093526619851423. Epub 2019 Jun 5.

Abstract

We report a rare case of sclerosing pneumocytoma occurring in a child with PTEN mutation. A 13-year-old female presented to the emergency department of an adult hospital following 2 to 3 days of upper respiratory tract infection symptoms. A primary lung lesion was discovered during her initial chest X-ray to rule out pneumonia. The patient underwent an uneventful thoracoscopic right upper lobe segmentectomy. The pathology demonstrated a sclerosing pneumocytoma of the lung. She tested positive for PTEN hamartoma tumor syndrome with a pathogenic variant at c.388 C > T. The PTEN mutation was also identified in the sclerosing pneumocytoma. Further study of PTEN mutation in sclerosing pneumocytoma is warranted.

Keywords: PediPath; lung; microscopy; molecular biology; molecular oncology; pediatric; sclerosing hemangioma; tumors.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Genetic Markers
  • Hamartoma Syndrome, Multiple / diagnosis
  • Hamartoma Syndrome, Multiple / genetics
  • Hamartoma Syndrome, Multiple / pathology*
  • Humans
  • Lung Neoplasms / diagnosis
  • Lung Neoplasms / genetics
  • Lung Neoplasms / pathology*
  • PTEN Phosphohydrolase / genetics*
  • Point Mutation*

Substances

  • Genetic Markers
  • PTEN Phosphohydrolase
  • PTEN protein, human