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Ref Type
PMID (36406830)
Authors Roeser A, Jouenne F, Vercellino L, Calvani J, Goldwirt L, Lorillon G, Tazi A
Title Dramatic Response After Switching MEK Inhibitors in a Patient With Refractory Mixed Histiocytosis.
Abstract Text We report the case of a patient with progressive multisystem mixed histiocytosis associating Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) involving the bone marrow, whose lesions harbored the MAP2K1 E102-I103del. After initial improvement under the MEK inhibitor trametinib, the treatment was only partially efficient and poorly tolerated. Eventually, although the trough blood level of trametinib at steady state was within expected ranges, the disease progressed to a life-threatening situation, with peritoneal involvement and anasarca. Switching to the MEK inhibitor cobimetinib as a salvage therapy resulted in a dramatic, rapid disease response, and the patient remains disease-free 3 years later with the treatment. The load of the MAP2K1 deletion in peripheral blood was correlated with the disease activity and strongly declined with cobimetinib, although it remained detectable at the last follow-up.


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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 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