Histiocytosis.
Journal
Lancet (London, England)
ISSN: 1474-547X
Titre abrégé: Lancet
Pays: England
ID NLM: 2985213R
Informations de publication
Date de publication:
10 07 2021
10 07 2021
Historique:
received:
20
01
2020
revised:
25
01
2021
accepted:
01
02
2021
pubmed:
27
4
2021
medline:
11
11
2021
entrez:
26
4
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33901419
pii: S0140-6736(21)00311-1
doi: 10.1016/S0140-6736(21)00311-1
pmc: PMC9364113
mid: NIHMS1819093
pii:
doi:
Substances chimiques
MAP Kinase Kinase Kinases
EC 2.7.11.25
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
157-170Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2021 Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of interests OA-W reports personal fees from Envisagenics, Pfizer Boulder, AIChemy, Janssen, Merck, H3 Biomedicine, Prelude Therapeutics, and Foundation Medicine, and grants from LOXO Oncology, during the conduct of the study. FC-A and JH are investigators (FC-A being the principal investigator) of an academic study on the efficacy of cobimetinib for treating histiocytoses (COBRAH, NCT 04007848). AI reports grants, research support, and travel funding from Carthera; grants from Transgene, Sanofi, Air Liquide, and Nutritheragene; personal fees from Novocure; and personal fees and travel funding from Leo Pharma, outside the submitted work. BJR received reimbursement for travel and lodging expenses from Eli Lilly and Company. JD reports grants from X4 Pharmaceuticals, outside the submitted work. All other authors declare no competing interests.
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