The growing body of evidence that genetic conditions can be successfully treated with targeted drug therapy (McCormick et al., 2016), including successful use of MEK-inhibitors to treat complex and often inoperable neurofibromatosis type-1-associated tumours (Klesse et al., 2020), encouraged us to trial Trametinib for our patient B. This evidence concerns the gene MAP2K7 and neurofibromatosis type 1.