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In an early-phase clinical trial of a new oral drug, selumetinib, children with the common genetic disorder neurofibromatosis type 1 (NF1) and plexiform neurofibromas, tumors of the peripheral nerves, tolerated selumetinib and, in most cases, responded to it with tumor shrinkage. NF1 affects 1 in 3,000 people. The study results appeared Dec. 29, 2016, in the New England Journal of Medicine [1].
Neurofibromatosis type 1 is a genetic condition that can cause tumors to form on nerves under the skin. Since these tumors can become malignant, it is important to monitor their growth closely and detect signs of malignant transformation as early as possible. However, the only way to currently detect them is with an MRI scan. New research published in BioMed Central’s open access journal BMC Medicine shows that a simple blood test for the protein melanoma-inhibitory activity (MIA) may be used to indicate the presence of neurofibromas even if they cannot be seen [1].
Neurofibromatosis (NF) encompasses a set of genetic disorders that cause benign and malignant tumors to grow along various types of nerves; it can also affect the development of bones and skin. There are three main types of NF tumors: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. NF1 is the most frequent of the three; one in every 3,000 children is born with the disease.
The Children’s Tumor Foundation (CTF) is the leading non-governmental funder of scientific research into neurofibromatosis and has funded NF studies for over 25 years. Their goal is to identify NF drug therapies and improve the lives of those living with the disorder. The Foundation also endeavors to increase public awareness of NF and provides resources for NF patients and their families.
A large-scale, multi-dimensional analysis of the genomic characteristics of glioblastoma, the most common primary brain tumor in adults, provides new insights into the roles of several genes and defines core biological pathways altered in tumor development [1]. The new Cancer Genome Atlas study, published in the September 4th advanced online edition of the journal Nature, also reveals a link between the DNA repair enzyme MGMT and a hypermutation phenotype, and has potential implications for the diagnosis and treatment of glioblastoma.
Glioblastoma is the most common and aggressive type of brain cancer. Patients newly diagnosed with glioblastoma have a median survival of approximately one year with generally poor response to therapy [2]. Gene expression profiling studies suggest multiple subtypes of glioblastoma that, when fully defined, may allow for more personalized therapeutic approaches [3-4].
The 2008 NF Conference was held last weekend (June 6 — 10) in Bonita Springs, Florida. The preeminent annual meeting provides a forum for basic and clinical neurofibromatosis (NF) investigators to present their research (pronounced noor-oh-fahy-broh-muh-toh-sis). The conference was attended by over 200 researchers from around the world
This year’s theme — Genes to Complications to Treatments — highlighted the progress being made in NF research and clinical care, as well as the research programs of the Children’s Tumor Foundation. Last year’s NF Conference focused on models, mechanisms and therapeutic targets.
