DOI: 10.12890/2026_007500

Pulmonary sclerosing pneumocytoma may be an under-recognized pulmonary manifestation of the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartoma tumour syndrome

Authors

  • Arwa Alghamdi College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Amani Alotaibi College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Ajwan Aljohani College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Adel Almaymuni Department of Surgery (Thoracic Surgery Division), King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia
  • Wajd Althakfi Department of Pathology (Histopathology Division), College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Waseem M. Hajjar Department of Surgery (Thoracic Surgery Division), College of Medicine, King Saud University, Riyadh, Saudi Arabia

whajjar@ksu.edu.sa

Keywords

Pulmonary sclerosing pneumocytoma, PTEN hamartoma tumour syndrome, lung neoplasm, AKT1 mutation, PI3K/AKT/mTOR pathway

Abstract

Introduction: Pulmonary sclerosing pneumocytoma (PSP) is a rare, benign neoplasm driven by somatic AKT1 mutations that activate the PI3K/AKT/mTOR pathway. Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartoma tumour syndrome (PHTS) results from germline pathogenic variants affecting the tumour suppressor gene PTEN, which regulates the same pathway. Although PSP is not an established manifestation of PHTS a small number of reports have suggested a possible association.
Case description: A 23-year- old Saudi woman presented with an incidental 9 mm pulmonary nodule detected during imaging. Her history included bilateral benign thyroid nodules, a left breast nodule (BI-RADS 3) and a venolymphatic malformation. Family history was significant for maternal breast cancer, a sister with diffuse lipomatosis, and a brother with autism spectrum disorder. Video-assisted thoracoscopic surgery (VATS) wedge resection was performed; histopathology and immunohistochemistry confirmed PSP. Chromosomal microarray analysis revealed a pathogenic germline deletion at 10q23.31 encompassing PTEN, confirming the diagnosis of PHTS.
Conclusion: This case adds molecularly confirmed adult evidence to the limited literature describing PSP in patients with PTEN alterations. The coexistence of germline PTEN loss and a tumour characterized by PI3K/AKT/mTOR pathway activation provides a biologically plausible basis for further investigation.

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References

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Published

2026-10-21

Issue

2026: LATEST ONLINE

Categories

How to Cite

1.
Alghamdi A, Alotaibi A, Aljohani A, Almaymuni A, Althakfi W, Hajjar WM. Pulmonary sclerosing pneumocytoma may be an under-recognized pulmonary manifestation of the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartoma tumour syndrome. EJCRIM [Internet]. 2026 Oct. 21 [cited 2026 Nov. 3];13. Available from: https://ejcrim.com/index.php/ejcrim/article/view/7500