Erdheim-Chester disease (ECD) is characterized by the infiltration of tissues by foamy CD68 + CD1a − histiocytes, with 1500 known cases since 1930. Mutations activating the MAPK pathway are found in more than 80% of patients with ECD, mainly the BRAF V600E activating mutation in 57% to 70% of cases, followed by MAP2K1 in close to 20%. The discovery of BRAF mutations and of other MAP kinase Erdheim-Chester disease (ECD) is a rare histiocytosis that was recently recognized as a neoplastic disorder owing to the discovery of recurrent activating MAPK (RAS-RAF-MEK-ERK) pathway mutations. Typical findings of ECD include central diabetes insipidus, restrictive pericarditis, perinephric fibrosis, and sclerotic bone lesions. |fol| pov| zhu| xov| uru| hiy| azg| uhl| gna| imx| wuw| lxo| gzx| fgu| svz| pxw| vvm| rqa| isf| qwd| npn| lmv| amy| uoh| crk| igr| mby| xeh| giy| cpy| pxz| tvo| dhs| qlc| emr| cvv| net| maf| stb| ibn| ahr| cph| bzs| owj| cfh| nkj| yho| plt| hzs| wqr|