Learn About Schwannomatosis
View Main Condition: Neural Crest Tumor
Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumor.
Mutations in at least two genes, SMARCB1 and LZTR1, can cause schwannomatosis. The proteins produced from both genes are thought to act as tumor suppressors, which normally keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in either of these genes may help cells grow and divide without control or order to form a tumor.
The incidence of schwannomatosis is unknown, although estimates in several populations have ranged from 1 in 40,000 to 1 in 1.7 million people. Some researchers have suggested that schwannomatosis may be as common as neurofibromatosis type 2, which has an incidence of 1 in 33,000 people worldwide.
Most cases of schwannomatosis are sporadic, which means that they occur in people with no history of the disorder in their family. Some people with sporadic schwannomatosis have mutations in the SMARCB1 or LZTR1 gene, but in others, the cause of the condition is unknown.
Dafydd Evans practices in Manchester, United Kingdom. Evans is rated as an Elite expert by MediFind in the treatment of Schwannomatosis. Their top areas of expertise are Schwannomatosis, Breast Cancer, Neurofibromatosis Type 2 (NF2), Oophorectomy, and Salpingo-Oophorectomy.
Mass General Brigham Cancer Institute: Neuro-Oncology
Scott Plotkin is a Neurologist in Boston, Massachusetts. Dr. Plotkin is rated as an Elite provider by MediFind in the treatment of Schwannomatosis. His top areas of expertise are Schwannomatosis, Neurofibromatosis Type 2 (NF2), Neurofibromatosis, and Acoustic Neuroma. Dr. Plotkin is currently accepting new patients.
Johns Hopkins University
Jaishri Blakeley is a Neurologist in Baltimore, Maryland. Dr. Blakeley is rated as an Elite provider by MediFind in the treatment of Schwannomatosis. Her top areas of expertise are Neurofibromatosis, Schwannomatosis, Neurofibromatosis Type 2 (NF2), Neurofibromatosis Type 1 (NF1), and Laminectomy.
Summary: This is a placebo-controlled, multi-arm phase II platform screening trial designed to test the safety, pain responses, and pharmacodynamic activity of multiple experimental therapies simultaneously in participants with moderate-to-severe pain due to schwannomatosis (SWN). This Master Study is being conducted as a platform that may allow participants with pain associated with schwannomatosis to rec...
Summary: The NF Registry is a database of patient-reported symptoms, treatments, and experiences with their neurofibromatosis disease. It is a contact registry to relay clinical trial opportunities to targeted patient subgroups, and to supply de-identified disease data to researchers. It has the potential to become a natural history resource.
Published Date: January 01, 2017
Published By: National Institutes of Health