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From: The Lancet(Vol. 398, Issue 10295)
Publisher: Elsevier B.V.
Document Type: Brief article
Length: 355 words

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Abstract :

Summary Histiocytoses constitute a heterogeneous group of rare disorders, characterised by infiltration of almost any organ by myeloid cells with diverse macrophage or dendritic cell phenotypes. Histiocytoses can start at any age. Diagnosis is based on histology in combination with appropriate clinical and radiological findings. The low incidence and broad spectrum of clinical manifestations often leads to diagnostic delay, especially for adults. In most cases, biopsy specimens infiltrated by histiocytes have somatic mutations in genes activating the MAP kinase cell-signalling pathway. These mutations might also be present in blood cells and haematopoietic progenitors of patients with multisystem disease. A comprehensive range of investigations and molecular typing are essential to accurately predict prognosis, which can vary from spontaneous resolution to life-threatening disseminated disease. Targeted therapies with BRAF or MEK inhibitors have revolutionised salvage treatment. However, the type and duration of treatment are still debated, and the prevention of neurological sequelae remains a crucial issue. Author Affiliation: (a) EA4340 BECCOH, Université de Versailles SQY, Service de Pathologie, Hôpital Ambroise Paré, AP-HP, Boulogne, France (b) Service d'Hématologie Oncologie Pédiatrique, Centre de Référence des Histiocytoses, Hôpital Armand-Trousseau, AP-HP, Paris, France (c) Internal Medicine Department 2, French National Referral Center for Rare Systemic Diseases and Histiocytoses, Pitié-Salpêtrière Hospital, AP-HP and Sorbonne Université, Paris, France (d) Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK (e) Pathology Department, Necker-Enfants Malades Hospital, AP-HP, Paris, France (f) UMR S 1127, CNRS/Inserm, Institut du Cerveau et de la Moelle Épinière, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, AP-HP and Sorbonne Université, Paris, France (g) Human Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA (h) Department of Medical Oncology, Dana-Farber Cancer Institute and Department of Medicine, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA * Correspondence to: Prof Jean-François Emile, EA4340 BECCOH, Service de Pathologie, Hôpital Ambroise-Paré, Boulogne 92104, France Byline: Prof Jean-François Emile, MD [jean-francois.emile@uvsq.fr] (a), Prof Fleur Cohen-Aubart, MD (c), Prof Matthew Collin, MD (d), Sylvie Fraitag, MD (e), Prof Ahmed Idbaih, MD (f), Omar Abdel-Wahab, MD (g), Prof Barrett J Rollins, MD (h), Jean Donadieu, MD (a,b), Prof Julien Haroche, MD (c)

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Gale Document Number: GALE|A667906690