title: Creation of an international registry to support discovery in schwannomatosis.
abstract: Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered. A well-curated registry of schwannomatosis patients is needed to facilitate research in field. An international consortium of clinicians and scientists across multiple disciplines with expertise in schwannomatosis was established and charged with the task of designing and populating a schwannomatosis patient registry. The International Schwannomatosis Registry (ISR) was built around key data points that allow confirmation of the diagnosis and identification of potential research subjects to advance research to further the knowledge base for schwannomatosis. A registry with 389 participants enrolled to date has been established. Twenty-three additional subjects are pending review. A formal process has been established for scientific investigators to propose research projects, identify eligible subjects, and seek collaborators from ISR sites. Research collaborations have been created using the information collected by the registry and are currently being conducted. The ISR is a platform from which multiple research endeavors can be launched, facilitating connections between affected individuals interested in participating in research and researchers actively investigating a variety of aspects of schwannomatosis. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Johns Hopkins University, Baltimore, Maryland.
authors.forename: K L
authors.initials: KL
authors.lastname: Ostrow
authors.affiliation: Johns Hopkins University, Baltimore, Maryland.
authors.forename: A L
authors.initials: AL
authors.lastname: Bergner
authors.affiliation: Johns Hopkins University, Baltimore, Maryland.
authors.forename: J
authors.initials: J
authors.lastname: Blakeley
authors.affiliation: University of Manchester, Manchester, England.
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
authors.affiliation: Guy's Hospital in London, London, England.
authors.forename: R
authors.initials: R
authors.lastname: Ferner
authors.affiliation: University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: J M
authors.initials: JM
authors.lastname: Friedman
authors.affiliation: Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: G J
authors.initials: GJ
authors.lastname: Harris
authors.affiliation: Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: J T
authors.initials: JT
authors.lastname: Jordan
authors.affiliation: University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: B
authors.initials: B
authors.lastname: Korf
authors.affiliation: Johns Hopkins University, Baltimore, Maryland.
authors.forename: S
authors.initials: S
authors.lastname: Langmead
authors.affiliation: Guy's Hospital in London, London, England.
authors.forename: G
authors.initials: G
authors.lastname: Leschziner
authors.affiliation: University of Hamburg, Hamburg, Germany.
authors.forename: V
authors.initials: V
authors.lastname: Mautner
authors.affiliation: Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: V L
authors.initials: VL
authors.lastname: Merker
authors.affiliation: University of Florence, Florence, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Papi
authors.affiliation: Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: S R
authors.initials: SR
authors.lastname: Plotkin
authors.affiliation: MD Anderson Cancer Center, Houston, Texas.
authors.forename: J M
authors.initials: JM
authors.lastname: Slopis
authors.affiliation: University of Manchester, Manchester, England.
authors.forename: M J
authors.initials: MJ
authors.lastname: Smith
authors.affiliation: Massachusetts General Hospital, Boston, Massachusetts.
authors.forename: A
authors.initials: A
authors.lastname: Stemmer-Rachamimov
authors.affiliation: Weill Cornell Medical College, New York City, New York.
authors.forename: K
authors.initials: K
authors.lastname: Yohay
authors.affiliation: Johns Hopkins University, Baltimore, Maryland.
authors.forename: A J
authors.initials: AJ
authors.lastname: Belzberg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual; D005260:Female; D056726:Genetic Association Studies; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009442:Neurilemmoma / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D017253:Neurofibromatoses / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D010641:Phenotype; D011159:Population Surveillance; D012042:Registries; D012878:Skin Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D055815:Young Adult
keywords: LZTR1; SMARCB1; Schwannoma; Schwannomatosis; registry