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Diagnostic criteria for schwannomatosis

From the Departments of Neurology (Drs. MacCollin and Plotkin), Radiology (Drs. Jaramillo and Lev), and Pathology (Dr. Stemmer-Rachamimov), Massachusetts General Hospital, Boston; the Department of Neurosurgery (Dr. Chiocca), Ohio State University Medical Center, Columbus; the Department of Genetics (Dr. Evans), St. Mary’s Hospital, Manchester, UK; the Department of Medical Genetics (Dr. Friedman), The University of British Columbia, Vancouver, Canada; The National Neurofibromatosis Foundation (R. Horvitz), New York, NY; the Department of Neurology (Dr. Mautner), University Hospital Hamburg-Eppendorf, Hamburg, Germany; Rinshoiyaku, Inc. (Dr. Niimura), Tokyo, Japan; the Department of Anesthesia (Dr. Sang), Brigham and Women’s Hospital, Boston, MA; and the Division of Child Neurology (Dr. Roach), Wake Forest University, Winston-Salem, NC. Dr. Jaramillo’s present affiliation is Department of Radiology, Children’s Hospital of Philadelphia, PA.

Address correspondence and reprint requests to Dr. Mia MacCollin, Bldg 149, 13th St., Charlestown, MA 02129; e-mail: maccollin{at}helix.mgh.harvard.edu

The neurofibromatoses are a diverse group of genetic conditions that share a predisposition to the development of tumors of the nerve sheath. Schwannomatosis is a recently recognized third major form of neurofibromatosis (NF) that causes multiple schwannomas without vestibular tumors diagnostic of NF2. Patients with schwannomatosis represent 2.4 to 5% of all patients requiring schwannoma resection and approximately one third of patients with schwannomatosis have anatomically localized disease with tumors limited to a single limb or segment of spine. Epidemiologic studies suggest that schwannomatosis is as common as NF2, but that familial occurrence is inexplicably rare. Patients with schwannomatosis overwhelmingly present with pain, and pain remains the primary clinical problem and indication for surgery. Diagnostic criteria for schwannomatosis are needed for both clinicians and researchers, but final diagnostic certainly will await the identification of the schwannomatosis locus itself.

Supported by the National Neurofibromatosis Foundation and a grant from the US Army Medical Research Command to M.M.

Presented in part at the National Neurofibromatosis Foundation International Consensus Conference on Schwannomatosis; Boston, MA; October 27, 2003.

Received September 29, 2004. Accepted in final form February 21, 2005.

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