First Reported Case of Malignant Ectomesenchymoma with p.Leu122Arg Mutation in MYOD1 Gene: Extensive Intra- and Extracranial Tumor in a 15-Year-Old Female.
Eva Manuela Pena-BurgosD Plaza-López De SabandoC UtrillaJ J Pozo-KreilingerA SastreP RubioA EscuderoM Mendiola-SabioA Pérez-MartínezPublished in: Head and neck pathology (2023)
To our knowledge, this is the first reported case in English literature of an EM with this MYOD1 mutation. We suggest combining PI3K/ATK pathway inhibitors in these cases. NGS should be performed in EMs cases to detect mutations with potential treatment options.