FGFR4 p.Gly388Arg polymorphism in PBMCs of LAM patients: findings of a pilot study.

ABSTRACT: Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease characterized by neoplastic-like proliferation of abnormal smooth muscle-like cells, primarily driven by mutations in the TSC2 gene. These mutations result in hyperactivation of the mTOR signaling pathway, leading to uncontrolled cell growth. However, additional genetic variants may modulate disease progression and severity. In this observational pilot study, we investigated the potential role of co-occurring variants. Peripheral blood mononuclear cells from seven sporadic LAM patients were analyzed using next-generation sequencing to identify potentially tumorigenic variants. The FGFR4 p.Gly388Arg gain-of-function polymorphism was identified in four patients, with allelic frequencies ranging from 49 to 99%. Patients

SUBMITTER: Koc-Gunel S 

PROVIDER: S-EPMC12328168 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature