Lung cysts, a common feature found in patients with hairy cell leukemia and Langerhans cell histiocytosis suggesting a potential implication of MAPK-pathway genetic alteration

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Hairy cell leukemia (HCL) and Langerhans cell histiocytosis (LCH) share common mutations in the MAPK pathway (BRAFV600E, MAP2K1) but lead to distinct clinical entities. We investigated whether the BRAFV600E and MAP2K1 mutations might be associated with the development of lung cysts and aimed to assess their prevalence. Methods: We conducted a multicentric retrospective study in the French registry of patients with HCL. Patients were included if they performed an HRCT during their follow up with no sign of infection, left heart disease or lung cancer. Results: Ten out of 35 patients (29%) with HCL (90% carrying BRAFV600E) presented with lung cysts: single (70%), sporadic (10%), or multiple (20%) cysts. The prevalence of cysts in c-HCL patients appears to be four times higher than in the general population (7.6% in a study of 2,633 patients). One patient was diagnosed with ILD. No relationship was observed between the level of tobacco exposure and the number of cysts, as seen in PLCH. Conclusion: Our data suggest a higher prevalence of cysts in patients with HCL compared to the general population, pointing to the implication of BRAFV600E in cyst development. A prospective multicenter study is needed to evaluate the frequency, impact, and progression of the associated pulmonary disease and should consider lung tissue sampling. erj;66/suppl_69/PA894/F1 F1 F1

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