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

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Youssef Nasr1, Marcos Bettoli2,3, Dina El Demellawy2,3

  • 1Biomedical Sciences Program, Faculty of Sciences, University of Ottawa, Ottawa, Ontario, Canada.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|June 6, 2019
PubMed

Insights

A rare sclerosing pneumocytoma in a child was linked to a PTEN mutation. This finding in pediatric lung tumors suggests a potential genetic link requiring further investigation.

Area of Science:

  • Pediatric Oncology
  • Pulmonology
  • Genetics

Background:

  • Sclerosing pneumocytoma is a rare lung tumor typically found in adult women.
  • PTEN hamartoma tumor syndrome (PHTS) is a genetic disorder associated with an increased risk of various tumors.
  • The occurrence of sclerosing pneumocytoma in children is exceptionally rare.

Observation:

  • A 13-year-old female presented with respiratory symptoms and a lung lesion was detected on chest X-ray.
  • Pathology confirmed sclerosing pneumocytoma of the lung.
  • Genetic testing revealed a pathogenic PTEN mutation (c.388C>T) in both the patient and the tumor.

Findings:

  • This is the first reported case of sclerosing pneumocytoma in a child.
  • The presence of a PTEN mutation in both the patient and the tumor suggests a potential role for PTEN in the development of this rare lung neoplasm in pediatric patients.
  • The tumor was successfully removed via thoracoscopic segmentectomy.

Implications:

  • This case expands the known spectrum of tumors associated with PTEN hamartoma tumor syndrome.
  • Further research into the role of PTEN mutations in pediatric lung tumors, including sclerosing pneumocytoma, is warranted.
  • Highlights the importance of genetic screening in pediatric patients with rare tumors.

Keywords:
PediPathlungmicroscopymolecular biologymolecular oncologypediatricsclerosing hemangiomatumors

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