Cytogenetic distinction among benign fibro-osseous lesions of bone in children and adolescents: Value of karyotypic findings in differential diagnosis

David M. Parham, Julia A. Bridge, Janet L. Lukacs, Yiling Ding, A. Francine Tryka, Jeffrey R. Sawyer

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Benign fibro-osseous lesions of bone (BFOL) comprise a group of clinically distinct entities with significant histologic overlap and often occur in children and adolescents. Because of prior studies indicating that these lesions possess distinct karyotypic abnormalities, we conducted a retrospective review of cytogenetic analyses performed in a series of 16 BFOL in children and adolescents diagnosed at two institutions. These comprised five cases with the diagnosis of ossifying fibroma, four with osteofibrous dysplasia, and seven with fibrous dysplasia arising in the skeleton of 16 children and adolescents. All cases were analyzed using standard G-banding techniques on fresh tumors explanted in tissue culture media. Spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) were used to analyze selected metaphases of a talar lesion with the histologic features of ossifying fibroma. All four confirmed ossifying fibromas, including the talar lesion, contained clonal aberrations fusing breakpoints on Xq26 and 2q33, and one case with dissimilar histology did not. 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.

Original languageEnglish (US)
Pages (from-to)148-158
Number of pages11
JournalPediatric and Developmental Pathology
Volume7
Issue number2
DOIs
StatePublished - Mar 1 2004

Fingerprint

Ossifying Fibroma
Cytogenetics
Differential Diagnosis
Bone and Bones
Spectral Karyotyping
Multiple Abnormalities
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 8
Cytogenetic Analysis
Metaphase
Fluorescence In Situ Hybridization
Karyotype
Skeleton
Chromosome Aberrations
Culture Media
Histology
Chromosomes
Neoplasms

Keywords

  • Bone neoplasms
  • Cytogenetics
  • Fibrous dysplasia of bone
  • Ossifying fibroma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

Cite this

Cytogenetic distinction among benign fibro-osseous lesions of bone in children and adolescents : Value of karyotypic findings in differential diagnosis. / Parham, David M.; Bridge, Julia A.; Lukacs, Janet L.; Ding, Yiling; Tryka, A. Francine; Sawyer, Jeffrey R.

In: Pediatric and Developmental Pathology, Vol. 7, No. 2, 01.03.2004, p. 148-158.

Research output: Contribution to journalArticle

Parham, David M. ; Bridge, Julia A. ; Lukacs, Janet L. ; Ding, Yiling ; Tryka, A. Francine ; Sawyer, Jeffrey R. / Cytogenetic distinction among benign fibro-osseous lesions of bone in children and adolescents : Value of karyotypic findings in differential diagnosis. In: Pediatric and Developmental Pathology. 2004 ; Vol. 7, No. 2. pp. 148-158.
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