Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2, there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. In schwannomatosis there may be pain either in one location or in wide areas of the body. The tumors in NF are generally non-cancerous.
Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of Neurofibromin 1, a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous system which can grow anywhere on the body. NF-1 is one of the most common genetic disorders and is not limited to any person's race or sex. NF-1 is an autosomal dominant disorder, which means that mutation or deletion of one copy of the NF-1 gene is sufficient for the development of NF-1, although presentation varies widely and is often different even between relatives affected by NF-1.
A malignant peripheral nerve sheath tumor (MPNST) is a form of cancer of the connective tissue surrounding nerves. Given its origin and behavior it is classified as a sarcoma. About half the cases are diagnosed in people with neurofibromatosis; the lifetime risk for an MPNST in patients with neurofibromatosis type 1 is 8–13%. MPNST with rhabdomyoblastomatous component are called malignant triton tumors.
A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they are found as stand-alone tumors, while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease. They can result in a range of symptoms from physical disfiguration and pain to cognitive disability.
Pilocytic astrocytoma is a brain tumor that occurs most commonly in children and young adults. They usually arise in the cerebellum, near the brainstem, in the hypothalamic region, or the optic chiasm, but they may occur in any area where astrocytes are present, including the cerebral hemispheres and the spinal cord. These tumors are usually slow growing and benign, corresponding to WHO malignancy grade 1.
The Children's Tumor Foundation (CTF) is a 501(c)(3) foundation dedicated to improving the health and well-being of individuals and families affected by NF, a group of genetic conditions known as neurofibromatosis or schwannomatosis. Their four-part mission includes propelling drug research and development through a series of strategic investments, strengthening patient support, increasing public awareness of NF and establishing best practices in clinical care for affected individuals. The Foundation is incorporated in all 50 states with active chapters and affiliates in 37 states. CTF is the largest private funder of all forms of NF research.
neurofibromatosis 1 (NF1) is a gene in humans that is located on chromosome 17. NF1 codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP. NF1 has a high mutation rate and mutations in NF1 can alter cellular growth control, and neural development, resulting in neurofibromatosis type 1. Symptoms of NF1 include disfiguring cutaneous neurofibromas (CNF), café au lait pigment spots, plexiform neurofibromas (PN), skeletal defects, optic nerve gliomas, life-threatening malignant peripheral nerve sheath tumors (MPNST), pheochromocytoma, attention deficits, learning deficits and other cognitive disabilities.
A nerve sheath tumor is a type of tumor of the nervous system which is made up primarily of the myelin surrounding nerves. From benign tumors like schwannoma to high grade malignant neoplasms known as malignant peripheral nerve sheath tumors, peripheral nerve sheath tumors include a range of clearly characterized clinicopathologic entities. A peripheral nerve sheath tumor (PNST) is a nerve sheath tumor in the peripheral nervous system. Benign peripheral nerve sheath tumors include schwannomas and neurofibromas.
Alfredo Quiñones-Hinojosa is a Mexican-American neurosurgeon, author, and researcher. Currently, he is the William J. and Charles H. Mayo Professor and Chair of Neurologic Surgery and runs a basic science research lab at the Mayo Clinic Jacksonville in Florida.
Albert Loren Rhoton Jr., was an American neurosurgeon and a professor specializing in microsurgical neuroanatomy. He was on the editorial boards of six surgical journals, and worked as professor and chairman of the Department of Neurological Surgery at the University of Florida. He was also president of organizations such as the American Association of Neurological Surgeons, among other surgical organizations.
The Collaborative Ependymoma Research Network (CERN) Foundation is a nonprofit organization composed of scientists and adult and pediatric cancer researchers who work together to develop new treatments for Ependymoma, a type of primary brain or spinal cord tumor that occurs in both children and adults, and improve the outcomes and care of patients. The organization is headquartered in Dayton, Ohio, USA.
Rosalie Ferner is Professor of Neurology at Guys and St Thomas's Hospital and the Department of Clinical Neuroscience at King's College London. Ferner is chairperson for the medical advisory board of the national Neuro Foundation. She has is national lead for the nationally commissioned NF1 service since and lead for the London NF2 service.
Professor Richard James Gilbertson is a paediatric oncology clinician scientist and a Senior Group Leader at the Cancer Research UK Cambridge Institute, University of Cambridge. He is the Li Ka Shing Chair of Oncology, and Director of the CRUK Cambridge Major Centre and the Children's Brain Tumour Centre of Excellence.
Michelle Leigh Monje-Deisseroth is a neuroscientist and neuro-oncologist. She is a professor of neurology at Stanford University and an investigator with the Howard Hughes Medical Institute. She develops new treatments for diffuse intrinsic pontine glioma.
Jonathan Lester Finlay is a pediatric neuro-oncologist specializing in the management of children, adolescents and young adults with brain tumors. He is the director of Neuro-oncology at Nationwide Children's Hospital, where he also serves as the Elizabeth and Richard Germain Endowed Chair in Pediatric Cancer. He also is professor of pediatrics at The Ohio State University College of Medicine.
Linda M. Liau is an American neurosurgeon, neuroscientist, and the W. Eugene Stern Chair of the Department of Neurosurgery at the David Geffen School of Medicine at UCLA. Liau was elected to the Society of Neurological Surgeons in 2013 and the National Academy of Medicine in 2018. She has published over 230 research articles and a textbook, Brain Tumor Immunotherapy. She served as editor-in-chief of the Journal of Neuro-Oncology from 2007 to 2017.
Santosh Kesari is an Indian-American neuro-oncologist and neurologist who currently serves as the chair and Professor of the Department of Translational Neurosciences and Neurotherapeutics at the Saint John's Cancer Institute.
Soma Sengupta is a British-American physician-scientist. She is a specialty board certified neuro-oncologist board certified Neurologist, fellowship-trained in Integrative Medicine. Her clinical interests span treatment of brain tumor patients, integrative approaches in neurology and oncology, as well as healthcare policy. She is a full-time faculty member in the Departments of Neurology and Neurosurgery at the University of North Carolina at Chapel Hill, where she is a Full Professor, Vice Chair, and Chief of the Division of Neuro-Oncology. She is also a Bye Fellow at Lucy Cavendish College, University of Cambridge, U.K.
Gelareh Zadeh is an Iranian-Canadian neurosurgeon who is a professor and the Dan Family Chair in the Department of Surgery at the University of Toronto. She is a neurosurgeon-scientist at Toronto Western Hospital at University Health Network. In 2020, Zadeh became the first woman to be elected Chair of the Division of Neurosurgery at the University of Toronto. In 2023, she was one of the two winners of the inaugural Canada Gairdner Momentum Award.
Brigitte C. Widemann is German-American pediatric oncologist. She is chief of the pediatric oncology branch and clinical deputy director of the center for cancer research at the National Cancer Institute. She is also the special advisor to the NCI director for childhood cancer.
