Neuropediatrics 2019; 50(05): 300-303
DOI: 10.1055/s-0039-1691830
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Trametinib Induces Neurofibroma Shrinkage and Enables Surgery

Pia Vaassen
1  Department of Pediatrics, Sana Kliniken Duisburg, Germany
Nikola Dürr
2  Department of Radiology and Neuroradiology, Sana Kliniken Duisburg, Germany
Andreas Röhrig
3  Department of Pediatric Neurosurgery, Asklepios Klinik St. Augustin, Germany
Rainer Willing
4  Department of Pediatrics, Ubbo-Emmius-Klinik Aurich, Germany
Thorsten Rosenbaum
1  Department of Pediatrics, Sana Kliniken Duisburg, Germany
› Author Affiliations
Further Information

Publication History

07 March 2019

23 April 2019

Publication Date:
29 May 2019 (online)


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