Erdheim-Chester Disease - 17/04/13

Doi : 10.1016/j.rdc.2013.02.011

Julien Haroche, MD, PhD ^a,^b,^⁎ , Laurent Arnaud, MD, PhD ^a,^b, Fleur Cohen-Aubart, MD, PhD ^a,^b, Baptiste Hervier, MD ^a,^b, Frédéric Charlotte, MD ^c, Jean-François Emile, MD, PhD ^d, Zahir Amoura, MD ^a,^b
^a Department of Internal Medicine, French Reference Center for Rare Autoimmune and Systemic Diseases, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, 47-83 boulevard de l’Hôpital, 75651 Paris Cedex 13, France
^b Université Pierre et Marie Curie, UPMC Univ Paris, Paris, France
^c Department of Anatomopathology, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France
^d Department of Pathology, Ambroise Paré Hospital, Assistance Publique Hôpitaux de Paris, Versailles University, 9 Avenue Charles de Gaulle, 92104 Boulogne-Billancourt, France

Corresponding author. Department of Internal Medicine, French Reference Center for Rare Autoimmune and Systemic Diseases, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, 47-83 boulevard de l’Hôpital, 75651 Paris Cedex 13, France.

Résumé

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans’ cell histiocytosis. Diagnosis of ECD is based on the identification in tissue biopsy of histiocytes, which are typically foamy and immunostain for CD68+ CD1a−. Central nervous system involvement is a major prognostic factor in ECD. Interferon alpha may be the best first-line therapy and significantly improves survival of ECD. The BRAFV600E mutation is found in more than 50% of cases. Vemurafenib has been used for a small number of patients harbouring this mutation; inhibition of BRAF activation by vemurafenib was highly beneficial in these cases of severe multisystemic and refractory ECD.

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Keywords : Erdheim-Chester disease, Histiocytosis, Langerhans cell histiocytosis, Interferon ⍺, BRAF