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Histiocytic disorders

Lookup NU author(s): Professor Matthew CollinORCiD


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© 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.

Publication metadata

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


DOI: 10.1038/s41572-021-00307-9