Clonal structural chromosome aberrations in fibrous dysplasia

Genes Chromosomes Cancer. 1994 Dec;11(4):271-2. doi: 10.1002/gcc.2870110411.

Abstract

Cytogenetic analysis of short-term cultures from a case of monostotic fibrous dysplasia in a 14-year-old girl revealed multiple clonal structural rearrangements with evidence of clonal evolution. The karyotype was 46,XX,del(3)(q27),add(10)(q22),add(12)(p13)/46,idem,t(3;8)(p21;q13 ),add(10) (q26),der(15)del(15)del(15)(q15q22)ins(15;?) q15;?)/46,id em,-X,+2,t(3;8),add(10),der(15). The finding of clonal structural aberrations suggests that fibrous dysplasia is a neoplastic lesion which develops as the result of somatic mutations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Bone Neoplasms / genetics
  • Bone Neoplasms / ultrastructure
  • Chromosome Aberrations / genetics*
  • Clone Cells / ultrastructure
  • Female
  • Fibrous Dysplasia, Monostotic / genetics*
  • Fibrous Dysplasia, Monostotic / pathology
  • Humans
  • Karyotyping