Langerhans Cell Histiocytoses Clinical Trial
Official title:
Functional and Genetical Characterization of Pulmonary Langerhans Cell Histiocytosis: Diagnostic and Therapeutical Implications.
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.
The main objective of this study is to expand the genetic and pathophysiological knowledge of
this disease. For this, the following points will be developed:
- Identification of mutations in the B-RAF oncogene in Spanish patients with pulmonary
LCHF.
- Development of ultrasensitive genetic analysis methods capable of identifying mutations
in B-RAF in bronchoalveolar lavage (BAL) samples.
- To determine if patients with mutations in the B-RAF oncogene present distinct clinical,
radiological and / or functional characteristics compared to those with absence of the
mutation.
- Characterization of the inflammatory profile of patients with HPCL.
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