Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAF(V600E) mutation

作者：Hervier Baptiste; Haroche Julien^*; Arnaud Laurent; Charlotte Frederic; Donadieu Jean; Neel Antoine; Lifermann Francois; Villabona Carles; Graffin Bruno; Hermine Olivier; Rigolet Aude; Roubille Camille; Hachulla Eric; Carmoi Thierry; Bezier Maud; Meignin Veronique; Conrad Marie; Marie Laurence; Kostrzewa Elise; Michot Jean Marie; Barete Stephane; Taly Valerie; Cury Karine; Emile Jean Francois; Amoura Zahir

来源：Blood, 2014, 124(7): 1119-1126.

DOI：10.1182/blood-2013-12-543793

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.

• 出版日期2014-8-14