European Journal of Case Reports in Internal Medicine
Pulmonary sclerosing pneumocytoma may be an under-recognized pulmonary manifestation of the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartoma tumour syndrome
By Arwa Alghamdi, Amani; id_orcid 0009-0007-6961-9169 Alotaibi, Ajwan Aljohani and 3 others.
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.