Pulmonary Sclerosing Pneumocytoma may be an Under-Recognized Pulmonary Manifestation of the Phosphatase and Tensin Homolog Deleted on Chromosome 10 (PTEN) Hamartoma Tumour Syndrome.
4 affiliations
- 1College of Medicine, King Saud University, Riyadh, Saudi Arabia.
- 2Department of Surgery (Thoracic Surgery Division), King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia.
- 3Department of Pathology (Histopathology Division), College of Medicine, King Saud University, Riyadh, Saudi Arabia.
- 4Department of Surgery (Thoracic Surgery Division), College of Medicine, King Saud University, Riyadh, Saudi Arabia.
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.Learning points
Pulmonary sclerosing pneumocytoma (PSP) may represent an under-recognized pulmonary manifestation of phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartoma tumour syndrome (PHTS).The association between PSP and PHTS may be explained by shared involvement of the PI3K/AKT/mTOR signalling pathway.The presence of PSP in a young patient with a suggestive personal or family history may warrant consideration of an underlying PTEN-related disorder.
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BibTeX
@article{alghamdi2026pulmonary,
title = {{Pulmonary Sclerosing Pneumocytoma may be an Under-Recognized Pulmonary Manifestation of the Phosphatase and Tensin Homolog Deleted on Chromosome 10 (PTEN) Hamartoma Tumour Syndrome.}},
author = {Arwa Alghamdi and Amani Alotaibi and Ajwan Aljohani and Adel Almaymuni and Wajd Althakfi and Waseem M Hajjar},
journal = {European journal of case reports in internal medicine},
year = {2026},
month = oct,
doi = {10.12890/2026_007500},
url = {https://europepmc.org/article/MED/43011698},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Pulmonary Sclerosing Pneumocytoma may be an Under-Recognized Pulmonary Manifestation of the Phosphatase and Tensin Homolog Deleted on Chromosome 10 (PTEN) Hamartoma Tumour Syndrome.
AU - Arwa Alghamdi
AU - Amani Alotaibi
AU - Ajwan Aljohani
AU - Adel Almaymuni
AU - Wajd Althakfi
AU - Waseem M Hajjar
PY - 2026
DA - 2026/10/21
JO - European journal of case reports in internal medicine
DO - 10.12890/2026_007500
UR - https://europepmc.org/article/MED/43011698
AB - 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.Learning points Pulmonary sclerosing pneumocytoma (PSP) may represent an under-recognized pulmonary manifestation of phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartoma tumour syndrome (PHTS).The association between PSP and PHTS may be explained by shared involvement of the PI3K/AKT/mTOR signalling pathway.The presence of PSP in a young patient with a suggestive personal or family history may warrant consideration of an underlying PTEN-related disorder.
SN - 2284-2594
ER -