Abstract
Histiocytosis is a syndrome characterized by fever, pain, and other symptoms caused by the neoplastic proliferation of atypical cells of the macrophage-dendritic cell lineage and surrounding inflammatory cell infiltration. The diagnosis is confirmed by the immune-histological features of biopsied specimens. From this viewpoint, histiocytosis is divided into Langerhans cell histiocytosis (LCH) (CD1a+/CD207+/CD14±/CD68±) and non-LCH, including Erdheim-Chester disease (ECD), juvenile xanthogranuloma, and Rosai-Dorfman disease (CD1a-/CD207-/CD14++/CD68++). Genetic alterations occur at the cellular level in hematopoietic progenitor cells, and environmental factors are assumed to influence tumor development. The genomic analysis of the lesions involved revealed driver mutations primarily in the MAPK pathway, including BRAF-V600E, and the PI3K pathway. This strongly suggests that abnormalities in these signaling pathways play a role in pathogenesis. Steroids, vinca alkaloids, cytarabine, and cladribine are commonly used to treat histiocytosis. However, efficacy has not been fully confirmed in any of them. In recent years, the efficacy of BRAF inhibitors and MEK inhibitors has been reported mainly in therapy-resistant and refractory cases of LCH and ECD.
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