title: Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism.
abstract: 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.
authors.affiliation: Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Suzanne M Jan
authors.initials: SM
authors.lastname: De Beur
authors.forename: Richard B
authors.initials: RB
authors.lastname: Finnegan
authors.forename: John
authors.initials: J
authors.lastname: Vassiliadis
authors.forename: Brian
authors.initials: B
authors.lastname: Cook
authors.forename: Dana
authors.initials: D
authors.lastname: Barberio
authors.forename: Scott
authors.initials: S
authors.lastname: Estes
authors.forename: Partha
authors.initials: P
authors.lastname: Manavalan
authors.forename: Joseph
authors.initials: J
authors.lastname: Petroziello
authors.forename: Stephen L
authors.initials: SL
authors.lastname: Madden
authors.forename: Justin Y
authors.initials: JY
authors.lastname: Cho
authors.forename: Rajiv
authors.initials: R
authors.lastname: Kumar
authors.forename: Michael A
authors.initials: MA
authors.lastname: Levine
authors.forename: Susan C
authors.initials: SC
authors.lastname: Schiavi
mesh_terms: D001483:Base Sequence; D001859:Bone Neoplasms / Q000235:genetics* / Q000378:metabolism; D001842:Bone and Bones / Q000378:metabolism*; D002117:Calcitriol / Q000378:metabolism; D002118:Calcium / Q000378:metabolism; D017931:DNA Primers; D020869:Gene Expression Profiling; D006801:Humans; D010018:Osteomalacia / Q000235:genetics* / Q000378:metabolism; D010281:Parathyroid Hormone / Q000378:metabolism; D010758:Phosphorus / Q000378:metabolism; D015203:Reproducibility of Results; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D010281:Parathyroid Hormone; D010758:Phosphorus; D002117:Calcitriol; D002118:Calcium