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Lookup NU author(s): Professor Matthew Collin
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© 2021 Elsevier LtdHistiocytoses 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(s): Emile J-F, Cohen-Aubart F, Collin M, Fraitag S, Idbaih A, Abdel-Wahab O, Rollins BJ, Donadieu J, Haroche J
Publication type: Review
Publication status: Published
Journal: The Lancet
Print publication date: 10/07/2021
Online publication date: 23/04/2021
Acceptance date: 02/04/2018
ISSN (print): 0140-6736
ISSN (electronic): 1474-547X
Publisher: Elsevier B.V.
PubMed id: 33901419