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Hematopoietic origin of Langerhans cell histiocytosis and Erdheim-Chester disease in adults.

Blood; 130(2): 167-175, 2017 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-28512190
Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are rare histiocytic disorders induced by somatic mutation of MAPK pathway genes. mutation is the most common mutation in both conditions and also occurs in the hematopoietic neoplasm hairy cell leukemia (HCL). It is not known if adult LCH or ECD arises from hematopoietic stem cells (HSCs), nor which potential blood borne precursors lead to the formation of histiocytic lesions. In this study, allele-specific polymerase chain reaction was used to map the neoplastic clone in 20 adults with LCH, ECD, and HCL. was tracked to classical monocytes, nonclassical monocytes, and CD1c myeloid dendritic cells (DCs) in the blood, and mutations were observed in HSCs and myeloid progenitors in the bone marrow of 4 patients. The pattern of involvement of peripheral blood myeloid cells was indistinguishable between LCH and ECD, although the histiocytic disorders were distinct to HCL. As reported in children, detection of in peripheral blood of adults was a marker of active multisystem LCH. The healthy counterparts of myeloid cells affected by mutation had a range of differentiation potentials depending on exogenous signals. CD1c DCs acquired high langerin and CD1a with granulocyte-macrophage colony-stimulating factor and transforming growth factor ß alone, whereas CD14 classical monocytes required additional notch ligation. Both classical and nonclassical monocytes, but not CD1c DCs, made foamy macrophages easily in vitro with macrophage colony-stimulating factor and human serum. These studies are consistent with a hematopoietic origin and >1 immediate cellular precursor in both LCH and ECD.


Células da Medula Óssea/patologia Doença de Erdheim-Chester/diagnóstico Células-Tronco Hematopoéticas/patologia Histiocitose de Células de Langerhans/diagnóstico Proteínas Proto-Oncogênicas B-raf/genética Adulto Alelos Antígenos CD/genética Antígenos CD/imunologia Antígenos CD1/genética Antígenos CD1/imunologia Células da Medula Óssea/imunologia Diferenciação Celular Células Dendríticas/imunologia Células Dendríticas/patologia Diagnóstico Diferencial Doença de Erdheim-Chester/genética Doença de Erdheim-Chester/imunologia Doença de Erdheim-Chester/patologia Feminino Células Espumosas/imunologia Células Espumosas/patologia Expressão Gênica Glicoproteínas/genética Glicoproteínas/imunologia Fator Estimulador de Colônias de Granulócitos e Macrófagos/genética Fator Estimulador de Colônias de Granulócitos e Macrófagos/imunologia Células-Tronco Hematopoéticas/imunologia Histiocitose de Células de Langerhans/genética Histiocitose de Células de Langerhans/imunologia Histiocitose de Células de Langerhans/patologia Humanos Imunofenotipagem Lectinas Tipo C/genética Lectinas Tipo C/imunologia Receptores de Lipopolissacarídeos/genética Receptores de Lipopolissacarídeos/imunologia Masculino Lectinas de Ligação a Manose/genética Lectinas de Ligação a Manose/imunologia Monócitos/imunologia Monócitos/patologia Mutação Proteínas Proto-Oncogênicas B-raf/imunologia Receptores Notch/genética Receptores Notch/imunologia Fator de Crescimento Transformador beta/genética Fator de Crescimento Transformador beta/imunologia