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MEK Inhibition in the Treatment of Congenital Langerhans Cell Histiocytosis: A Case Report and Review of the Literature

5 Aug 2024

Abstract excerpt

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...

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PMID: 39101723
DOI: 10.1097/mph.0000000000002927

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