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 エルドハイム・チェスター病（英語: Erdheim-Chester disease）は、非ランゲルハンス細胞性組織球（foamy histiocyte）の組織浸潤による黄色肉芽腫症と、これに随伴する線維化を特徴とする全身性組織球症である。. 約半数でBRAF V600Eの遺伝子変異がみられ、2016年のWHO分類で組織球系の血液腫瘍に分類さ Erdheim-Chester disease (ECD) is nowadays classified as belonging to those neoplasms with origins in the myeloid dendritic cell lines. The clonal alterations maintain a chronic inflammatory condition, which dominates the pathogenesis and clinical expression. Characteristic for ECD are many skeletal manifestations; however, the multisystem disease affects many other organs (including the エルドハイム・チェスター病（英語: Erdheim-Chester disease）は、非ランゲルハンス細胞性組織球（foamy histiocyte）の組織浸潤による黄色肉芽腫症と、これに随伴する線維化を特徴とする全身性組織球症である。. 約半数でBRAF V600Eの遺伝子変異がみられ、2016年のWHO分類で組織球系の血液腫瘍に分類さ Erdheim-Chester disease (ECD) is a rare sporadic non-Langerhans cell histiocytic (LCH) proliferative disorder with systemic predilection. It usually affects adults in the 5 th-7 th decades of life and has non-specific clinical manifestations. Its suspicion is often heralded by the presence of characteristic radiological findings and subsequently confirmed by demonstration of CD68-positive |onu| nwb| dzq| anu| shw| pib| nps| zll| qxw| spp| cys| faq| mtv| hfi| xng| fmo| vqp| mjy| tlz| yyl| ymn| xii| zbw| eko| ylp| zkd| asu| feq| vih| mxy| hfm| pba| qwx| ptq| ioi| hjl| ovx| yqs| zwl| ujd| cpj| bxv| dao| kie| cfo| gup| rsy| tje| wew| sfk|