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.
A vestibular schwannoma (VS), also called acoustic neuroma, is a benign tumor that develops on the vestibulocochlear nerve that passes from the inner ear to the brain. The tumor originates when Schwann cells that form the insulating myelin sheath on the nerve malfunction. Normally, Schwann cells function beneficially to protect the nerves which transmit balance and sound information to the brain. However, sometimes a mutation in the tumor suppressor gene, NF2, located on chromosome 22, results in abnormal production of the cell protein named Merlin, and Schwann cells multiply to form a tumor. The tumor originates mostly on the vestibular division of the nerve rather than the cochlear division, but hearing as well as balance will be affected as the tumor enlarges.
Spinal tumors are neoplasms located in either the vertebral column or the spinal cord. There are three main types of spinal tumors classified based on their location: extradural and intradural. Extradural tumors are located outside the dura mater lining and are most commonly metastatic. Intradural tumors are located inside the dura mater lining and are further subdivided into intramedullary and extramedullary tumors. Intradural-intramedullary tumors are located within the dura and spinal cord parenchyma, while intradural-extramedullary tumors are located within the dura but outside the spinal cord parenchyma. The most common presenting symptom of spinal tumors is nocturnal back pain. Other common symptoms include muscle weakness, sensory loss, and difficulty walking. Loss of bowel and bladder control may occur during the later stages of the disease.
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 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.
Neurofibromatosis type II is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves. The types of tumors frequently associated with NF2 include vestibular schwannomas, meningiomas, and ependymomas. The main manifestation of the condition is the development of bilateral benign brain tumors in the nerve sheath of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Besides, other benign brain and spinal tumors occur. Symptoms depend on the presence, localisation and growth of the tumor(s), in which multiple cranial nerves can be involved. Many people with this condition also experience vision problems. Neurofibromatosis type II is caused by mutations of the "Merlin" gene, which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation.
Dana–Farber Cancer Institute is a comprehensive cancer treatment and research institution in Boston, Massachusetts. Dana–Farber is the founding member of Dana–Farber/Harvard Cancer Center, Harvard's Comprehensive Cancer Center designated by the National Cancer Institute, and one of the 15 clinical affiliates and research institutes of Harvard Medical School.
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.
Phakomatoses, also known neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses are single-gene disorders that may be inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Presentations may vary dramatically between patients with the same particular syndrome due to mosaicism, variable expressivity, and penetrance.
Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder neurofibromatosis (NF). Originally described in Japanese patients, it consists of multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF. The exact frequency of schwannomatosis cases is unknown, although some populations have noted frequencies as few as 1 case per 1.7 million people.
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.
The Society for Immunotherapy of Cancer (SITC), previously known as the International Society for Biological Therapy of Cancer (iSBTc), is a professional society of scientists, academicians, researchers, clinicians, government representatives, and industry leaders from around the world dedicated to improving outcomes in patients with cancer by advancing the science and application of cancer immunotherapy. Currently, SITC has more than 2,400 members, representing 22 medical specialties from 42 countries around the world, who are engaged in the research and treatment of cancer.
The Rare Diseases Clinical Research Network (RDCRN) is an initiative of the US Office of Rare Diseases Research (ORDR). RDCRN is funded by the ORDR, the National Center for Advancing Translational Sciences and collaborating institute centers. The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. Through the RDCRN consortia, physician scientists and their multidisciplinary teams work together with patient advocacy groups to study more than 200 rare diseases at sites across the nation.
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.
The Alzheimer's Drug Discovery Foundation (ADDF) is a nonprofit organization founded in 1998 by co-chairmen Leonard A. Lauder and Ronald S. Lauder of the Estée Lauder Companies cosmetics family and led by Howard Fillit, a geriatrician and neuroscientist. The ADDF provides funding to scientists who are conducting promising, innovative Alzheimer's disease drug research worldwide. The ADDF funds early-stage research and early-phase clinical trials that might otherwise go unfunded. By supporting research projects around the world, it seeks to increase the chances of finding treatments for Alzheimer's disease, related dementias and cognitive aging. The ADDF has invested nearly $65 million to fund some 450 Alzheimer's drug discovery programs and clinical trials in academic centers and biotechnology companies in 18 countries.
Sheila K. Singh MD, PhD, FRCSC is a chief pediatric neurosurgeon at McMaster Children's Hospital in Ontario, Canada. She is also Professor of Surgery and Biochemistry, the Division Head of Neurosurgery at Hamilton Health Sciences, the Research Director for McMaster's Division of Neurosurgery, and a scientist/principal investigator appointed to the Stem Cell and Cancer Research Institute at McMaster University.
David Hillel Gutmann is an American neurologist-neuroscientist. He teaches at Washington University in St. Louis, where he is the Donald O. Schnuck Family Professor, and Director of the Washington University Neurofibromatosis Center at He is an international expert in Neurofibromatosis, pioneering the use of preclinical models to understand brain tumors and neurodevelopmental delays in children with NF1.
David Wade Clapp is an American pediatric physician-scientist. He is the chair of the Department of Pediatrics at Indiana University's School of Medicine and also the Physician-in-Chief at Riley Hospital for Children at IU Health.
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.
