Servicio de Pediatría, Hospital Universitario Cruces, Grupo Oncología Pediátrica, Instituto Investigación Sanitaria Biocruces, Barakaldo, Bizkaia, Spain; Departamento de Pediatría. Facultad de Medicina y Enfermería, Universidad del País Vasco, UPV/EHU, Barakaldo, Bizkaia, Spain.
Grupo de Oncología Pediatrica, Instituto Investigación Sanitaria Biocruces Bizkaia, Barakaldo, Bizkaia, Spain; Departamento de Fisiología, Facultad de Medicina y Enfermería, Universidad del País Vasco, UPV/EHU, Barakaldo, Bizkaia. Spain.
An Pediatr (Engl Ed). 2022 Aug;97(2):130.e1-130.e7. doi: 10.1016/j.anpede.2022.05.005. Epub 2022 Jul 20.
Langerhans cell histiocytosis (LCH) is a type of myeloid neoplasia that can affect different organs or tissues and exhibits substantial variability in its clinical presentation and biological behaviour, so it may mimic different diseases. Performance of different clinical assessments and laboratory and imaging tests is recommended to determine the extent of involvement, which may be of a single location or multisystemic, and the presence or absence of dysfunction in risk organs, such as the haematopoietic system, liver and spleen. The diagnosis must be confirmed by histological examination of a biopsy sample. Molecular tests have identified mutations in the mitogen-activated protein kinase (MAPK) pathway, which has expanded treatment options. The diagnosis is complex and there is controversy regarding the management of certain cases. Treatment recommendations depend on the location of the lesions and the extent of involvement. International collaborative studies have demonstrated the effectiveness of prolonged combination therapies such as vinblastine and prednisone in severe or multisystemic forms, and anti-inflammatory drugs such as indomethacin and other cytostatic combinations have proven beneficial. Langerhans cell histiocytosis is a good example of the importance of precision medicine and the benefit of identifying molecular targets, common to different neoplasms, to develop new therapies. MAPK pathway inhibitors offer an alternative treatment option in refractory cases and neurodegenerative forms of LCH. Molecular testing can contribute to the prognosis, treatment and follow-up of LCH, especially in severe forms of disease.
朗格汉斯细胞组织细胞增生症（LCH）是一种髓系肿瘤，可影响不同的器官或组织，其临床表现和生物学行为存在很大差异，因此可能模仿不同的疾病。建议进行不同的临床评估以及实验室和影像学检查，以确定受累范围，可能是单一部位或多系统受累，以及是否存在造血系统、肝脏和脾脏等风险器官的功能障碍。诊断必须通过活检样本的组织学检查来确认。分子检测已经确定了丝裂原活化蛋白激酶（MAPK）通路的突变，这扩大了治疗选择。该诊断较为复杂，某些病例的治疗管理存在争议。治疗建议取决于病变部位和受累范围。国际合作研究表明，长春碱和泼尼松等长期联合疗法在严重或多系统形式中有效，而吲哚美辛等抗炎药物和其他细胞毒联合疗法已被证明有益。朗格汉斯细胞组织细胞增生症是精准医学重要性的一个很好的例子，也证明了确定不同肿瘤共有的分子靶标以开发新疗法的益处。MAPK 通路抑制剂为难治性病例和朗格汉斯细胞组织细胞增生症的神经退行性形式提供了替代治疗选择。分子检测可有助于预测 LCH 的预后、治疗和随访，尤其是在严重疾病形式中。
