Cytogenetic analysis of a scapular chondromyxoid fibroma

Cancer Genet Cytogenet. 1998 Jul 1;104(1):52-6. doi: 10.1016/s0165-4608(97)00450-0.

Abstract

Chondromyxoid fibroma (CMF) is a rare cartilaginous tumor of bone. It typically presents in the lower extremities of young males. Cytogenetic analysis of two chondromyxoid fibromas has been previously reported. We studied a scapular CMF from an 11-year-old female by cytogenetic and molecular cytogenetic methods and found an unbalanced reciprocal translocation between the short arm of chromosome 3 and the long arm of chromosome 6. In this translocation, several bands from chromosome 3 (3p12, 3p13, 3p14, 3p21) are lost and several bands on chromosome 6 (6q21, 6q22, 6q23) appear rearranged. Two known cartilage-related genes are located in the regions affected by this unbalanced rearrangement: the type X collagen gene (COL10A1) located at 6q21-q22 and the parathyroid hormone/parathyroid hormone-related peptide receptor gene (PTH/PTHrP) located at 3p21.1-p22. These genes function to control growth and maturation of endochondral bone, the site of origin of cartilaginous tumors.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Bone Neoplasms / diagnostic imaging
  • Bone Neoplasms / genetics*
  • Bone Neoplasms / pathology*
  • Child
  • Chondroblastoma / diagnostic imaging
  • Chondroblastoma / genetics*
  • Chondroblastoma / pathology*
  • Chromosomes, Human, Pair 3 / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Radiography
  • Scapula / diagnostic imaging
  • Scapula / pathology*
  • Translocation, Genetic