Trametinib Induces Neurofibroma Shrinkage and Enables Surgery.

摘要: Plexiform neurofibromas are congenital peripheral nerve sheath tumors characteristic of neurofibromatosis type 1 (NF1)-a frequent neurocutaneous disorder caused by mutations the NF1 tumor suppressor gene. Since plexiform a major cause burden disease and may also progress to malignancy, many efforts have been undertaken find cure for these tumors. However, neither surgery nor medication has so far produced breakthrough therapeutic success. Recently, clinical phase I study reported significant shrinkage following treatment with MEK inhibitor selumetinib. Here, we report an 11-year-old patient large neurofibroma neck that had led sharp-angled kinking cervical spine subsequent myelopathy. Although surgical stabilization vertebral column was urgently recommended, inaccessible due extensive growth. In this situation, trametinib initiated which resulted in 22% reduction volume after 6 months therapy finally enabled surgery. These data show inhibitors not lead complete disappearance NF1-associated but can be essential step multimodal approach The course our suggests likely play role providing one most devastating manifestations NF1.