MicroRNA expression in a phosphaturic mesenchymal tumour

摘要: Abstract Phosphaturic mesenchymal tumours are a heterogeneous set of bone and soft tissue neoplasms that can cause number paraneoplastic syndromes such as tumour induced osteomalacia. The term phosphaturic comes from the common finding these secrete high levels fibroblast growth factor 23 which causes renal phosphate wasting leading to hypophosphatemia. rare diagnosis is difficult. A very active 68 year old male presented with pain muscle weakness. He was hypophosphataemic total alkaline phosphatase markedly elevated. patient placed on vitamin D supplementation but his condition progressed. In fifth year presentation required use wheelchair described “explosive” physical contact. Serum 1,25 dihydroxyvitamin low serum significantly elevated, raising suspicion tumour. lesion detected in left femoral head underwent hip replacement. displayed rapid improvement during three follow up period he returned an lifestyle. As molecular testing may help provide robust particularly useful diseases we took next generation sequencing approach identify differential expression small RNAs resected Small non-coding RNA molecules play key role regulation gene be used specific biomarkers. We found upregulation miR-197. also downregulation miR-20b, miR-144 miR-335 profile typical osteosarcoma. MiR-21, most frequently upregulated microRNA cancer, downregulated. conclude osteosarcoma except for oncogenic miR-21. Transcriptional plasticity miR-197, computationally predicted target messenger RNA, cellular effort correct ectopic protein.