TSC2

This study characterized the spectrum of TSC1 and TSC2 gene variants in a cohort of 34 Greek patients with Tuberous Sclerosis Complex (TSC). Using targeted next-generation sequencing, pathogenic or likely pathogenic variants were identified in 65% of probands. The majority of variants were found in TSC2, and seven variants were previously unreported. Exploratory genotype-phenotype analysis suggested a trend towards a more severe clinical presentation in patients with TSC2 variants. These findings underscore the utility of genetic testing for diagnosis, genetic counseling, and patient management in TSC.

This retrospective study investigated eight cases of multifocal micronodular pneumocyte hyperplasia (MMPH) associated with tuberous sclerosis complex (TSC), a rare benign pulmonary lesion. Patients typically presented with multiple ground-glass nodules in the lungs on CT scans and various clinical manifestations of TSC. A significant diagnostic challenge was highlighted, as intraoperative frozen sections were often misdiagnosed as early-stage lung adenocarcinoma. Next-generation sequencing revealed TSC1 or TSC2 gene mutations in most patients, confirming the association with TSC. All followed-up patients showed a favorable overall survival.