title: Aneurysmal bone cyst: a hereditary disease?
abstract: Recent genetic and immunohistochemical studies propose that the primary aneurysmal bone cyst is a tumour and not a reactive tumour-simulating lesion. Based on a familial case of aneurysmal bone cyst the authors contacted 135 patients with this disease. Sixty-eight females and 67 males (median age 14 years; range 2-73 years) were asked if other family members had bone lesions. One hundred and seven patients (79%) denied having other family members with lesions, 23 patients (17%) did not answer, and five patients (4%) gave evidence of other bone lesions in the family. These data indicate that a predisposing genetic defect could be part of a multifactorial pathogenesis in the development of some aneurysmal bone cysts.
authors.affiliation: Department of Orthopaedic Surgery, Karl Franzens University, Auenbruggerplatz 9, A-8036 Graz, Austria.
authors.forename: Andreas
authors.initials: A
authors.lastname: Leithner
authors.forename: Felix
authors.initials: F
authors.lastname: Machacek
authors.forename: Oskar A
authors.initials: OA
authors.lastname: Haas
authors.forename: Susanna
authors.initials: S
authors.lastname: Lang
authors.forename: Peter
authors.initials: P
authors.lastname: Ritschl
authors.forename: Roman
authors.initials: R
authors.lastname: Radl
authors.forename: Reinhard
authors.initials: R
authors.lastname: Windhager
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D017824:Bone Cysts, Aneurysmal / Q000150:complications / Q000235:genetics* / Q000601:surgery; D001859:Bone Neoplasms / Q000150:complications / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005269:Femur; D005360:Fibula; D020022:Genetic Predisposition to Disease; D018212:Giant Cell Tumor of Bone / Q000150:complications / Q000235:genetics; D006801:Humans; D006811:Humerus; D007085:Ilium; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D013977:Tibia