In a recent publication, spearheaded by Dr. Wing H. Wong, a former graduate student in Dr. Todd Druley’s laboratory, in collaboration with NF Center director, Dr. David Gutmann, identified a new gene involved in the formation of malignant brain tumors, called glioblastomas, in people with NF1.
In this study, they performed whole-exome sequencing on multiple brain tumor samples from a young man with NF1 who died of a glioblastoma. Using this approach, they found that mutations in the KMT2B gene were the likely the cancer-causing genetic events in this young man. KMT2B belongs to a family of proteins that package DNA in the nucleus and are important for turning on and off the activity of DNA. Future research is aimed at understanding how mutations in KMT2B lead to brain cancer, especially in young adults with NF1.
Wong WH, Junck L, Druley TE, Gutmann DH. NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events. Neurology. 2019 Dec 10;93(24):1067-1069. doi: 10.1212/WNL.0000000000008623. Epub 2019 Nov 5. PMID: 31690684.