Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism

Suzanne M.Jan De Beur, Richard B. Finnegan, John Vassiliadis, Brian Cook, Dana Barberio, Scott Estes, Partha Manavalan, Joseph Petroziello, Stephen L. Madden, Justin Y. Cho, Rajiv Kumar, Michael A. Levine, Susan C. Schiavi

Research output: Contribution to journalArticlepeer-review

167 Scopus citations


Oncogenic osteomalacia (OOM) is associated with primitive mesenchymal tumors that secrete phosphaturic factors resulting in low serum concentrations of phosphate and calcitriol, phosphaturia, and defective bone mineralization. To identify overexpressed genes in these tumors, we compared gene expression profiles of tumors resected from patients with OOM and histologically similar control tumors using serial analysis of gene expression (SAGE). Three hundred and sixty-four genes were expressed at least twofold greater in OOM tumors compared with control tumors. A subset of 67 highly expressed genes underwent validation with an extended set of OOM and control tumors using array analysis or reverse-transcription polymerase chain reaction (RT-PCR). Ten of these validated genes were consistently overexpressed in all OOM tumors relative to control tumors. Strikingly, genes with roles in bone matrix formation, mineral ion transport, and bone mineralization were highly expressed in the OOM tumors.

Original languageEnglish (US)
Pages (from-to)1102-1110
Number of pages9
JournalJournal of Bone and Mineral Research
Issue number6
StatePublished - Jan 1 2002


  • Gene expression
  • Hypophosphatemia
  • Mesenchymal tumors
  • Mineral metabolism
  • Osteomalacia

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine


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