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Molecular Profile Detail

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Profile Name MAP2K1 E102_I103del
Gene Variant Detail

MAP2K1 E102_I103del (gain of function)

Relevant Treatment Approaches

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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 E102_I103del Advanced Solid Tumor resistant Trametinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing MAP2K1 E102_I103del were resistant to Mekinist (trametinib) in culture (PMID: 36442478). 36442478
MAP2K1 E102_I103del histiocytosis predicted - sensitive Cobimetinib Case Reports/Case Series Actionable In a clinical case study, Cotellic (cobimetinib) resulted in dramatic clinical improvement and decreased variant allele frequency in a patient with mixed histiocytosis harboring MAP2K1 E102_I103del, with the patient remaining disease free at least 3 years after treatment initiation (PMID: 36406830). 36406830
MAP2K1 E102_I103del Advanced Solid Tumor predicted - sensitive SCH772984 Preclinical - Biochemical Actionable In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 E102_I103del in culture (PMID: 32641410). 32641410
MAP2K1 E102_I103del Advanced Solid Tumor resistant Trametinib Preclinical - Biochemical Actionable In a preclinical study, transformed cells expressing MAP2K1 E102_I103del were less sensitive to Mekinist (trametinib) compared to to similar mutations in the negative regulatory domain of the Map2k1 protein in culture (PMID: 32641410). 32641410
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
MAP2K1 E102_I103del histiocytosis predicted - sensitive Trametinib Case Reports/Case Series Actionable In a clinical case study, Mekinist (trametinib) treatment resulted in complete remission of cutaneous lesions and resolution of the pituitary gland enlargement and associated symptoms in a patient with Langerhans cell histiocytosis harboring MAP2K1 E102_I103del (PMID: 35172489). 35172489
MAP2K1 E102_I103del histiocytosis predicted - sensitive Trametinib Case Reports/Case Series Actionable In a clinical case study, Mekinist (trametinib) treatment resulted in symptom improvement, resolution of the partial pneumothorax, and reduction in cystic lesions in a patient with pulmonary Langerhans cell histiocytosis harboring MAP2K1 E102_I103del (PMID: 29694792). 29694792