Schwannomas are benign tumors of the peripheral nervous system which commonly occur in their sporadic, solitary form in otherwise normal individuals. Rarely, individuals develop multiple schwannomas arising from one or many elements of the peripheral nervous system. Most such individuals develop bilateral vestibular schwannoma or neurofibromatosis 2, but recently we have found that some individuals and affected family members have a distinct clinical entity. In this study, we are investigating the clinical characteristics of schwannomatosis and attempting to determine the genetic changes that cause the disorder. The goals of this project include a further understanding of the functioning of the NF2 tumor suppressor gene and the identification of other genes which may be involved in schwannoma formation. This information will not only be helpful to ongoing work in our laboratory on NF2 and related disorders, but will also contribute to the rapidly expanding field of genetic predisposition to tumor formation. Our preliminary data suggests that these studies will lead to the recognition of the role of atypical genetics in this disease including somatic mosaicism. Finally, these studies will provide immediate benefit to patients and families affected with schwannomatosis by generating information on the natural history and genetic risks associated with this disorder.

Active research into the causes and natural history of these phenotypes is currently being conducted through the MGH NF clinic.

Mia MacColin, M.D.
html Editor