Chapter 12 - Cytogenetics of Bone Tumors

Abstract

The mechanism of bone tumor development is complex and largely unknown. This chapter summarizes the current status of cytogenetic changes in bone tumors. However routine, traditional cytogenetics has its limitations in identifying chromosomal changes in bone tumors. As an adjunct tool, array comparative genomic hybridization (CGH) technology should be used to identify subtle deletions and duplications that reveal gene(s) responsible for some of these bone tumors. Osteochondroma is the most common benign bone tumor, often found in patients under the age of 20 years. The majority of cases (85%) of osteochondroma present as sporadic, solitary, non-hereditary lesions. Osteoid osteoma is a benign bone-forming tumor characterized by small size, limited growth potential and disproportionate pain. Benign fibrous histiocytoma of bone is a benign lesion of bone composed of spindle-shaped fibroblasts, arranged in a storiform pattern. The giant cell tumor is a benign, locally aggressive neoplasm composed of sheets of neoplastic ovoid mononuclear cells interspersed with uniformly distributed osteoclast-like giant cells. Cytogenetics revealed telomeric association or telomeric fusion in more than 75% of patients with a giant cell tumor of bone.