Histiocytoses: emerging neoplasia behind inflammation Article Report uri icon


MeSH Major

  • Glutarates
  • Isocitrate Dehydrogenase
  • Leukemia, Myeloid, Acute
  • Mutation


  • Histiocytoses are disorders characterised by inflammation and the accumulation of cells derived from the monocyte and macrophage lineages, which results in tissue damage. Although they are often considered rare disorders with protean clinical manifestations, considerable advances in the understanding of their genetics have led to increased clinical recognition of these conditions, and fuelled further insights into their pathogenesis. In this Review, we describe insights into the cells of origin, molecular pathology, clinical features, and treatment strategies for some of the most common histiocytic disorders, including Langerhans cell histiocytosis, Erdheim-Chester disease, and Rosai-Dorfman disease. With the discovery of recurrent mutations affecting the mitogen-activated protein kinase and mTOR-AKT pathways in some of these histiocytoses, our understanding of these diseases has now evolved from the concept of a primary inflammatory condition to that of a clonal neoplastic disease. This understanding has led to the development of effective mechanism-based therapeutic strategies for patients with histiocytic diseases.

publication date

  • February 2017



  • Report


Digital Object Identifier (DOI)

  • 10.1016/S1470-2045(17)30031-1

PubMed ID

  • 28214412

Additional Document Info

start page

  • e113

end page

  • e125


  • 18


  • 2