title: Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome.
abstract: Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed.
authors.affiliation: Medical Genetics Unit, MassGeneral Hospital for Children, Boston, MA, USA.
authors.forename: Danielle B
authors.initials: DB
authors.lastname: Pier
authors.affiliation: Stephen E. & Catherine Pappas Center for Neuro-Oncology, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Fabio P
authors.initials: FP
authors.lastname: Nunes
authors.affiliation: Stephen E. & Catherine Pappas Center for Neuro-Oncology, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Scott R
authors.initials: SR
authors.lastname: Plotkin
authors.affiliation: Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Anat O
authors.initials: AO
authors.lastname: Stemmer-Rachamimov
authors.affiliation: Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: James C
authors.initials: JC
authors.lastname: Kim
authors.affiliation: Department of Radiation Oncology, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Helen A
authors.initials: HA
authors.lastname: Shih
authors.affiliation: Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Broad Institute of MIT and Harvard, Boston, MA, USA.
authors.forename: Priscilla
authors.initials: P
authors.lastname: Brastianos
authors.affiliation: Medical Genetics Unit, MassGeneral Hospital for Children, Boston, MA, USA. Electronic address: lin.angela@mgh.harvard.edu.
authors.forename: Angela E
authors.initials: AE
authors.lastname: Lin
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008577:Meningeal Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008579:Meningioma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D025581:Neurofibromin 2 / Q000235:genetics; D012307:Risk Factors; D014424:Turner Syndrome / Q000150:complications*
chemical_list: D025581:Neurofibromin 2
keywords: Aortic dissection; Meningioma; NF2; Pseudocoarctation; Sex chromosome abnormality syndrome; Turner syndrome