EA4340 BECCOH, Université de Versailles SQY, Service de Pathologie, Hôpital Ambroise Paré, AP-HP, Boulogne, France.
Internal Medicine Department 2, French National Referral Center for Rare Systemic Diseases and Histiocytoses, Pitié-Salpêtrière Hospital, AP-HP and Sorbonne Université, Paris, France.
Lancet. 2021 Jul 10;398(10295):157-170. doi: 10.1016/S0140-6736(21)00311-1. Epub 2021 Apr 23.
Histiocytoses constitute a heterogeneous group of rare disorders, characterised by infiltration of almost any organ by myeloid cells with diverse macrophage or dendritic cell phenotypes. Histiocytoses can start at any age. Diagnosis is based on histology in combination with appropriate clinical and radiological findings. The low incidence and broad spectrum of clinical manifestations often leads to diagnostic delay, especially for adults. In most cases, biopsy specimens infiltrated by histiocytes have somatic mutations in genes activating the MAP kinase cell-signalling pathway. These mutations might also be present in blood cells and haematopoietic progenitors of patients with multisystem disease. A comprehensive range of investigations and molecular typing are essential to accurately predict prognosis, which can vary from spontaneous resolution to life-threatening disseminated disease. Targeted therapies with BRAF or MEK inhibitors have revolutionised salvage treatment. However, the type and duration of treatment are still debated, and the prevention of neurological sequelae remains a crucial issue.
组织细胞增生症是一组罕见疾病，其特征是髓系细胞浸润几乎任何器官，并具有不同的巨噬细胞或树突状细胞表型。组织细胞增生症可发生于任何年龄。诊断基于组织学，结合适当的临床和影像学发现。发病率低且临床表现广泛，常导致诊断延迟，尤其是在成人中。在大多数情况下，受组织细胞浸润的活检标本存在激活 MAP 激酶细胞信号通路的基因体细胞突变。这些突变也可能存在于多系统疾病患者的血细胞和造血祖细胞中。广泛的检查和分子分型对于准确预测预后至关重要，预后可从自发性缓解到危及生命的播散性疾病不等。BRAF 或 MEK 抑制剂的靶向治疗已经彻底改变了挽救治疗。然而，治疗的类型和持续时间仍存在争议，预防神经后遗症仍然是一个关键问题。
