The phosphaturic mesenchymal tumor as a cause of oncogenic osteomalacia. Three cases and review of the literature

Abstract

IntroductionThe phosphaturic mesenchymal tumour (PMT) is a very uncommon cause of oncogenic osteomalacia (OO), which is a paraneoplastic syndrome with severe clinical osteomalacia. The PMT is a neoplasia that produces the fibroblast growth factor FGF23, resulting in reduced proximal tubular phosphate reabsorption leading to hyperphosphaturia and hypophosphatemia. Our aim is to present our experience and complications in diagnosis and treatment of PMT in three patients. Material and methodsWe propose an observational, descriptive and retrospective study of three cases of OO secondary to PMT found in our database of bone and soft tissue tumours. The inclusion criteria were: symptoms related with OO, presence of hyperphosphaturic hypophosphatemia, elevated levels of FGF23 in blood and pathological diagnosis of PMT. ResultsIn all cases, the disease showed asthenia, non-specific bone pain, progressive functional weakness, and pathological fractures. The average delay time in diagnosis was 7 years. All presented with hyperphosphaturic hypophosphatemia, elevated levels of alkaline phosphatase as well as FGF23. The use of Octreoscan and PET-CT were essential to find the producing tumour and its subsequent biopsy. Treatment was surgery in two cases and one case was treated by CT-guided cryotherapy with neurophysiological control. Once the surgery was performed, the blood parameters normalized. There is no recurrence. ConclusionsPhosphaturic mesenchymal tumor is a very rare entity as part of bone and soft tissue tumors, it may occur in both tissues. The phosphate-calcium homeostasis is altered due to high serum levels of FGF23 because of PMT. Delay in diagnosis is usual, leading to renal and skeletal comorbidities. To avoid this, knowledge of this entity together with high diagnostic suspicion are critical. Surgical treatment leads to normalization of serum levels and systemic symptoms.