Browse by author
Lookup NU author(s): Professor Matthew CollinORCiD
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
© 2021, Springer Nature Limited.The historic term ‘histiocytosis’ meaning ‘tissue cell’ is used as a unifying concept for diseases characterized by pathogenic myeloid cells that share histological features with macrophages or dendritic cells. These cells may arise from the embryonic yolk sac, fetal liver or postnatal bone marrow. Prior classification schemes align disease designation with terminal phenotype: for example, Langerhans cell histiocytosis (LCH) shares CD207+ antigen with physiological epidermal Langerhans cells. LCH, Erdheim–Chester disease (ECD), juvenile xanthogranuloma (JXG) and Rosai–Dorfman disease (RDD) are all characterized by pathological ERK activation driven by activating somatic mutations in MAPK pathway genes. The title of this Primer (Histiocytic disorders) was chosen to differentiate the above diseases from Langerhans cell sarcoma and malignant histiocytosis, which are hyperproliferative lesions typical of cancer. By comparison LCH, ECD, RDD and JXG share some features of malignant cells including activating MAPK pathway mutations, but are not hyperproliferative. ‘Inflammatory myeloproliferative neoplasm’ may be a more precise nomenclature. By contrast, haemophagocytic lymphohistiocytosis is associated with macrophage activation and extreme inflammation, and represents a syndrome of immune dysregulation. These diseases affect children and adults in varying proportions depending on which of the entities is involved.
Author(s): McClain KL, Bigenwald C, Collin M, Haroche J, Marsh RA, Merad M, Picarsic J, Ribeiro KB, Allen CE
Publication type: Review
Publication status: Published
Journal: Nature Reviews Disease Primers
Year: 2021
Volume: 7
Issue: 1
Online publication date: 07/10/2021
Acceptance date: 07/09/2021
ISSN (electronic): 2056-676X
Publisher: Nature Research
URL: https://doi.org/10.1038/s41572-021-00307-9
DOI: 10.1038/s41572-021-00307-9
