Osteoblastoma characterized by a three-way translocation: report of a case and review of the literature

Osteoblastoma, an uncommon primary bone tumor, produces both osteoid and primitive woven bone in a background of fibrovascular connective tissue. Although most osteoblastomas are considered benign, a controversial aggressive variant has been described, which may cause diagnostic confusion with malignant tumors such as osteosarcoma. To date, no specific diagnostic cytogenetic or molecular marker has been identified for osteoblastoma to aid in its distinction. Conventional cytogenetic analysis of an osteoblastoma arising in the femur of a 23-year-old woman revealed a novel three-way translocation involving chromosomes 1, 2 and 14 [t(1;2;14) (q42;q13;q24)]. Rearrangement of 1q42 has been identified in a previously reported case.