CYTOGENETIC ANALYSIS OF A SCAPULAR CHONDROMYXOID FIBROMA

Chondromyxoid fibroma (CMF) is a rare cartilaginous tumor of bone. If typically presents in the lower extremities of young males. Cytogeneti c analysis of two chondromyxoid fibromas has been previously reported. We studied a scapular CMF from an 11-year-old female by cytogenetic a nd molecular cytogenetic methods and found an unbalanced reciprocal tr anslocation 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 (6q 21, 6q22, 6q23) appear rearranged. Two known cartilage-related genes a re located in the regions affected by this unbalanced rearrangement: t he type,X collagen gene (COL10A1) located at 6q21-q22 and the parathyr oid hormone/ parathyroid hormone-related peptide receptor gene (PTH/PT HrP) located at 3p21.1-p22. These genes function to control growth and maturation of endochondral bone, the site of origin of cartilaginous tumors. (C) Elsevier Science Inc., 1998.