Cytogenetics
trisomy 7 (8156503)
trisomy 8 (10079250, 15022060)
trisomy 12 (8156503, 15022060)
trisomy 20 (10079250)
tumoral trisomy 21 (15022060, 15022060)
tumoral trisomy 22 (8156503)
Three of four osteofibrous dysplasias contained multiple copies of chromosomes 8, 12, and/or 21. All but two fibrous dysplasia cases exhibited either a completely normal karyotype or single cell aberrations. One fibrous dysplasia had subtle chromosomal abnormalities not seen in other cases in the series, and another had complex abnormalities involving multiple chromosomes. Our current and published results indicate that cytogenetics might be of ancillary use in the diagnosis of BFOL and that a characteristic chromosomal arrangement is associated with ossifying fibroma.
PMID: 15022060 [PubMed - indexed for MEDLINE]
Differential diagnosis
References
Parham DM, Bridge JA, Lukacs JL, Ding Y, Tryka AF, Sawyer JR. Cytogenetic distinction among benign fibro-osseous lesions of bone in children and adolescents: value of karyotypic findings in differential diagnosis. Pediatr Dev Pathol. 2004 Mar-Apr;7(2):148-58. PMID: 15022060
Maki M, Saitoh K, Horiuchi H, Morohoshi T, Fukayama M, Machinami R. Comparative study of fibrous dysplasia and osteofibrous dysplasia: histopathological, immunohistochemical, argyrophilic nucleolar organizer region and DNA ploidy analysis. Pathol Int. 2001 Aug;51(8):603-11. PMID: 11564214
Bridge JA, Dembinski A, DeBoer J, Travis J, Neff JR. Clonal chromosomal abnormalities in osteofibrous dysplasia. Implications for histopathogenesis and its relationship with adamantinoma. Cancer. 1994 Mar 15;73(6):1746-52. PMID: 8156503