Work

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

Year: 2026

Type: article

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.

Source: European Journal of Case Reports in Internal Medicine

DOI: 10.12890/2026_007500

Authors: Arwa Alghamdi, Amani Alotaibi, Ajwan Aljohani, Adel Almaymuni, Wajd Althakfi, Waseem M. Hajjar

Institutions: King Saud University, King Fahd Armed Forces Hospital

Language: English

Topic: Medical Imaging and Pathology Studies

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $323