Oncogenic osteomalacia/phosphaturic mesenchymal tumor

Abstract

In 1947, McCance removed a tumor in a 15-year old girl who had experienced 2 years of bone and muscle pain, with weakness and skeletal deformity. The lesion consisted of a degenerative osteoid tissue with giant cells that were well vascularized [1]. At that time, McCance did not put together clinical manifestations and skeletal changes. Several months later the patient recovered from her symptoms. This case history is considered to be the first report of oncogenic osteomalacia. The first correlation of clinical symptoms, osteomalacia and tumor deccribed Prader in 1957 based on the case of giant cell granuloma of the rib [5]. Subsequently described lesions, although given a plethora of names, may be characterized as mostly vascular and mesenchуmal in nature [3]. It has been shown that mesenchymal tumors, associated with oncogenic osteomalacia overexpress fibroblast growth factor-23, a recently described protein capable of inhibiting renal tubular epithelial phosphate transport. This is now thought to be the mechanism underlying most cases of oncogenic osteomalacia [2, 7, 8].