title: Constitutional DNA-level aberrations in chromosome 22 in a patient with multiple meningiomas.
abstract: We describe a patient who developed multiple meningiomas but had no clear evidence of neurofibromatosis type 2. Four of the tumors, derived from three different sites, were analyzed cytogenetically and/or at the DNA level using chromosome 22 specific probes. All four tumors showed loss of the same copy of chromosome 22. On the chromosome that was retained in the tumors, we found two constitutional aberrations, a 1.5 kb deletion and a point mutation. The patient had inherited both alterations from her father. The father has not developed any meningiomas so far but he has been treated for a well-differentiated adenocarcinoma of the lung and a brain metastasis from this tumor. The mother and 75 unrelated individuals did not show any of the chromosome 22 alterations. The multiple tumors found in the patient suggest that she has a predisposing gene for the development of meningiomas. The finding that all investigated tumors lost the same, constitutionally normal copy of chromosome 22 could indicate that the predisposing gene resides on chromosome 22 and was affected by the constitutional mutations.
authors.affiliation: Department of Pathology, Erasmus University, Rotterdam, The Netherlands.
authors.forename: R H
authors.initials: RH
authors.lastname: LeKanne Deprez
authors.forename: N A
authors.initials: NA
authors.lastname: Groen
authors.forename: D
authors.initials: D
authors.lastname: Louz
authors.forename: A
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: E
authors.initials: E
authors.lastname: van Drunen
authors.forename: J W
authors.initials: JW
authors.lastname: Koper
authors.forename: C J
authors.initials: CJ
authors.lastname: Avezaat
authors.forename: D
authors.initials: D
authors.lastname: Bootsma
authors.forename: T H
authors.initials: TH
authors.lastname: van der Kwast
authors.forename: E C
authors.initials: EC
authors.lastname: Zwarthoff
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000556:secondary; D000328:Adult; D001932:Brain Neoplasms / Q000235:genetics / Q000556:secondary; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics; D008297:Male; D008577:Meningeal Neoplasms / Q000235:genetics*; D008579:Meningioma / Q000235:genetics*; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D004273:DNA, Neoplasm; D005819:Genetic Markers