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Ref Type Journal Article
PMID (36730444)
Authors Orr K, Hustak S, Beaudoin R, Ray A
Title Success of Trametinib in the Treatment of Langerhans Cell Histiocytosis With Novel MAPK Pathway Mutations.
Journal Vol Issue Date Pages Journal Short Title
Journal of pediatric hematology/oncology 45 4 2023 May 01 e534-e538 J Pediatr Hematol Oncol
URL
Abstract Text Approximately a third of patients with Langerhans cell histiocytosis (LCH) experience recurrence of disease. Genomic analysis has revealed that this condition is often driven by oncogenic mutations in the MAP kinase (MAPK) pathway, and agents that target components of this pathway have been explored as a second-line treatment for LCH. Here, we examine 2 pediatric patients with LCH and confirmed but rarely reported MAPK pathway mutations treated with trametinib, a MAP2K inhibitor approved to treat several cancers with a BRAFV600E mutation. Each patient achieved or maintained complete resolution of disease and remain on the drug with no adverse effects.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 E102_I103del histiocytosis predicted - sensitive Trametinib Case Reports/Case Series Actionable In a clinical case study, treatment with Mekinist (trametinib) resulted in complete remission in a pediatric patient with Langerhans cell histiocytosis harboring MAP2K1 E102_I103del, with treatment ongoing for at least 10 months (PMID: 36730444). 36730444