Sporadic lymphangioleiomyomatosis in a man with somatic mosaicism of TSC2 mutations, a case report.

This article discusses a case report of a 32-year-old Chinese man with sporadic lymphangioleiomyomatosis (LAM), a rare neoplasm that primarily affects women. LAM in male patients is uncommon, and the mechanisms behind it are not well understood. The patient had a novel TSC2 mutation and somatic mosaic TSC2 mutations, which resulted in multi-system involvement including pulmonary LAM, kidney and liver angiomyolipomas, and sclerotic bone lesions. The study highlights the importance of gene sequencing in various tissues to establish a diagnosis in individuals who do not exhibit other symptoms of tuberous sclerosis complex (TSC). [Extracted from the article]