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|Ref Type||Journal Article|
|Authors||Messinger YH, Bostrom BC, Olson DR, Gossai NP, Miller LH, Richards MK|
|Title||Langerhans cell histiocytosis with BRAF p.N486_P490del or MAP2K1 p.K57_G61del treated by the MEK inhibitor trametinib.|
|Journal||Pediatric blood & cancer|
|Date||2020 Sep 29|
|Abstract Text||Activating variants of the MAPK pathway have been found in some Langerhans cell histiocytosis (LCH) lesions. Inhibition of the MAPK pathway with trametinib (MEK inhibitor) has been shown to induce responses in LCH patients. Two adolescent males with LCH driven by BRAF p.N486_P490del have received trametinib for >1 year with no reactivation in one and partial response in another (including stable lung disease). A third male with neonatal LCH and MAP2K1p.K57_G61del had a complete response to trametinib with no active disease after 22 months. All patients continue on trametinib monotherapy with tolerable skin and creatine phosphokinase toxicity.|
|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|
|BRAF N486_P490del||lymphatic system cancer||predicted - sensitive||Trametinib||Case Reports/Case Series||Actionable||In a clinical case study, Mekinist (trametinib) treatment in two patients with Langerhans cell histiocytosis harboring BRAF N486_P490del resulted in a complete response with no disease reactivation over 18 months of treatment in one patient and a partial response with stable disease in the lungs maintained over 12 months of treatment in a second patient (PMID: 32991018).||32991018|
|MAP2K1 K57_G61del||lymphatic system cancer||predicted - sensitive||Trametinib||Case Reports/Case Series||Actionable||In a clinical case study, a pediatric patient with Langerhans cell histiocytosis harboring MAP2K1 K57_G61del treated with Mekinist (trametinib) achieved a rapid complete response and had no active disease over 22 months of treatment (PMID: 32991018).||32991018|