Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]
Official Title: Functional and Genetical Characterization of Pulmonary Langerhans Cell Histiocytosis: Diagnostic and Therapeutical Implications.
Brief Summary:
Very recent studies indicate that a high percentage of HCL, about 50%, have mutations in the B-RAF oncogene. The development of ultrasensitive methodologies capable of identifying these mutations in bronchoalveolar lavage will represent a significant advance in the diagnosis and treatment of these patients. An undetermined percentage of HCL does not present mutations in B-RAF. Consequently, the deep genetic analysis, through the use of techniques of massive sequencing, can favor the identification of new alterations that contribute to the development of the disease.
We hypothesized that patients with HCL may present a different inflammatory state to healthy subjects or smokers, allowing us to identify new biomarkers.