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Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation

Baptiste Hervier 1, 2 Julien Haroche 1, 2 Laurent Arnaud 1, 2 Frédéric Charlotte 3, 4 Jean Donadieu 5, 6 Antoine Neel 7 François Lifermann 8 Carles Villabona 9 Bruno Graffin 10 Olivier Hermine 11 Aude Rigolet 1, 4 Camille Roubille 12 Eric Hachulla 13 Thierry Carmoi 14 Maud Bezier 15 Véronique Meignin 15 Marie Conrad 16 Laurence Marie 17 Elise Kostrzewa 18 Jean-Marie Michot 19 Stéphane Barete 20 V. Taly 21, * Karine Cury 20 Jean-François Emile 22 Zahir Amoura 1, 2 
Abstract : Histiocytoses are a group of heterogeneous diseases that mostly comprise Langerhans cell histiocytosis (LCH) and non-LCH. The association of LCH with non-LCH is exceptional. We report 23 patients with biopsy-proven LCH associated with Erdheim-Chester disease (ECD) (mixed histiocytosis) and discuss the significance of this association. We compare the clinical phenotypes of these patients with those of 56 patients with isolated LCH and 53 patients with isolated ECD. The average age at diagnosis was 43 years. ECD followed (n = 12) or was diagnosed simultaneously with (n = 11) but never preceded LCH. Although heterogeneous, the phenotype of patients with mixed histiocytosis was closer to that of isolated ECD than to that of isolated LCH (principal component analysis). LCH and ECD improved in response to interferon alpha-2a treatment in only 50% of patients (8 of 16). We found the BRAF(V600E) mutation in 11 (69%) of 16 LCH lesions and in 9 (82%) of 11 ECD lesions. Eight patients had mutations in both ECD and LCH biopsies. Our findings indicate that the association of LCH and ECD is not fortuitous and suggest a link between these diseases involving the BRAF(V600E) mutation.
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Baptiste Hervier, Julien Haroche, Laurent Arnaud, Frédéric Charlotte, Jean Donadieu, et al.. Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation. Blood, American Society of Hematology, 2014, 124 (7), pp.1119-1126. ⟨10.1182/blood-2013-12-543793⟩. ⟨inserm-02299580⟩



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