朗格汉斯细胞组织细胞增多症
曲美替尼
医学
MEK抑制剂
组织细胞
组织细胞增多症
MAPK/ERK通路
疾病
化疗
内科学
激酶
免疫学
生物
遗传学
作者
Natalia Wojciechowska,Sydney Burke,Anish Ray
标识
DOI:10.1097/mph.0000000000002927
摘要
Langerhans cell histiocytosis (LCH) is a histiocytic disorder that predominantly affects young children, with congenital manifestations being exceedingly rare. Here, we report a male infant with congenital LCH harboring a driving mutation within the mitogen-activated protein kinase pathway, specifically MAP2K1 Q56P. First-line use of targeted therapy with oral MEK inhibitor trametinib led to rapid and complete resolution of the infant’s widespread cutaneous disease. This patient remains clinically well with normal growth and development and no sign of progressive disease or medication intolerance. This case demonstrates the impact that targeted therapy can have as an alternative to systemic chemotherapy in an age group known to experience more extensive disease.
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