title: Clonal chromosomal abnormalities in osteofibrous dysplasia. Implications for histopathogenesis and its relationship with adamantinoma.
abstract: BACKGROUND
  The pathogenesis of osteofibrous dysplasia, a rare fibroosseous lesion occurring almost exclusively in the tibia of children younger than 10 years of age, is not known. One theory is that osteofibrous dysplasia results from excessive resorption of bone with fibrous repair of the defect. Alternatively, osteofibrous dysplasia has been considered a congenital lesion or a variant of fibrous dysplasia. It has been hypothesized that osteofibrous dysplasia is a secondary reactive process to adamantinoma. Cytogenetic analysis is one form of investigation that has been instrumental in determining the origin of many disorders.
  
  
  METHODS
  Short-term cultures of two separate osteofibrous dysplasia specimens (approximately 1 year apart) from the tibia of an 11-year-old boy and 2 separate specimens (approximately 2 years apart) from the tibia of a 16-year-old boy were cytogenetically examined using standard procedures. Additionally, fluorescence in situ hybridization (FISH) studies were performed on uncultured cells of both specimens of the first patient using an alpha-satellite probe for chromosome 12.
  
  
  RESULTS
  Cytogenetic and FISH analysis revealed trisomy 12 in both specimens of the first patient. Trisomy for chromosomes 7, 8, and 22 was seen in both specimens of the second patient.
  
  
  CONCLUSIONS
  Osteofibrous dysplasia has not previously been subjected to cytogenetic analysis. Trisomy 7 and 12, however, have been reported in a clonally aberrant adamantinoma, potentially providing further support for a relationship between these two lesions. Most importantly, these findings demonstrate a clonal and possibly neoplastic origin for osteofibrous dysplasia of long bone.
authors.affiliation: Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha.
authors.forename: J A
authors.initials: JA
authors.lastname: Bridge
authors.forename: A
authors.initials: A
authors.lastname: Dembinski
authors.forename: J
authors.initials: J
authors.lastname: DeBoer
authors.forename: J
authors.initials: J
authors.lastname: Travis
authors.forename: J R
authors.initials: JR
authors.lastname: Neff
mesh_terms: D000293:Adolescent; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D018214:Fibroma, Ossifying / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009375:Neoplasms, Glandular and Epithelial / Q000235:genetics* / Q000473:pathology; D013977:Tibia / Q000473:pathology*; D014314:Trisomy / Q000235:genetics / Q000473:pathology