Histiocytic Disorders and Associated Neoplasms
Summary
Histiocytic disorders encompass a spectrum of rare conditions characterised by the accumulation and proliferation of histiocytes and related dendritic cells within tissues. These disorders range from non-neoplastic reactive syndromes to overt neoplastic entities, reflecting diverse underlying mechanisms of immune dysregulation and oncogenic mutation. Clinically, they present with solitary lesions or multisystem involvement, affecting the skeleton, skin, central nervous system, cardiovascular structures and viscera. Key subtypes include Langerhans cell histiocytosis, Erdheim–Chester disease, Rosai–Dorfman disease and a variety of histiocytic sarcomas and dendritic cell neoplasms. Advances in molecular profiling have revealed recurrent activating mutations in the MAPK/ERK pathway—most notably BRAF V600E, NRAS, KRAS and MAP2K1—as well as novel fusions involving ALK and other kinases. Diagnostic confirmation relies on a combination of histopathology, immunophenotyping and molecular assays, often complemented by cross-sectional and nuclear imaging. Treatment has evolved from empirical use of interferon and chemotherapy to targeted inhibition of mutated kinases, offering improved disease control and survival. Despite these advances, challenges remain in refining classification, predicting clinical course and widening access to precision therapies on a global scale.
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Histiocytic Disorders and Associated Neoplasms publication trend
The graph below shows the total number of articles in histiocytic disorders and associated neoplasms across all publications each year (not limited to Nature Index journals).
Technical terms
Histiocyte: Tissue-resident macrophage involved in phagocytosis and immune regulation.
Neoplasm: Abnormal cellular proliferation forming a benign or malignant growth.
Langerhans cell histiocytosis: Clonal proliferation of Langerhans-type dendritic cells marked by CD1a and Langerin positivity.
Erdheim–Chester disease: Multisystem non-Langerhans histiocytosis characterised by foamy CD68-positive macrophages.
Rosai–Dorfman disease: Disorder with S100-positive histiocytes demonstrating emperipolesis within lymph nodes and extranodal sites.
BRAF V600E mutation: Substitution of valine by glutamic acid at residue 600 of BRAF kinase, driving MAPK pathway hyperactivation.
ALK fusion: Oncogenic gene rearrangement that results in constitutive anaplastic lymphoma kinase activity.
References
- ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition. Blood (2022).
- Rosai–Dorfman Disease between Proliferation and Neoplasia. Cancers (2022).
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