PRJNA672228
Genetic study of adult Langerhans cell histiocytosis (germline control)
The clinical features and prognosis of adult Langerhans cell histiocytosis (LCH) remained poorly defined. Although recurrent somatic activating mutations of BRAFV600E and additional genetic drivers of MAPK pathway had been discovered in LCH, most genomic analyses were from children and the spectrum of genetic alterations and the impact of these genetic mutations on clinical presentation in adult LCH remains elusive. To address these questions, we retrospectively studied the genomic analyses and outcomes of adult LCH patients in our center. This project consists of four buccal cell samples (germline control).