Coexistence of Tumor-Induced Osteomalacia and Primary Hyperparathyroidism

Markou, Αthina; Tsiama, Vassiliki; Tournis, Symeon; Papanastasiou, Labrini; Tsiavos, Vaios; Dassou, Anicet Gbèblonoudo; Vlachou, Vasiliki; Papaliodi, Eugenia; Asimaki, Niki; Zografos, George; Piaditis, George

doi:10.4158/ep11177.cr

Cited by 10 publications

(5 citation statements)

References 18 publications

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“…The latter is usually normal in TIO, although it could be high as in our case likely due to secondary hyperparathyroidism, which is an adequate response to low 1,25-DHD which in turn occurs due to elevated FGF-23 5. Conventional imaging techniques such as CT may fail to identify the tumours that are overexpressing FGF-23.…”

Section: Differential Diagnosismentioning

confidence: 72%

'Tumour-induced osteomalacia'

Muñoz

Ortega²,

Celzo³

et al. 2012

Case Reports

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Section: Differential Diagnosismentioning

confidence: 72%

'Tumour-induced osteomalacia'

Muñoz

Ortega²,

Celzo³

et al. 2012

Case Reports

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“…Previous calcitriol and phosphate treatment in our patient suggests a tertiary rather than primary hyperparathyroidism. The coexistence of hyperparathyroidism with TIO has been described before and can lead to life-threatening hypophosphatemia (4) , (5) . The use of imaging techniques can help identify the lesion and surgery remains the treatment of choice.…”

Section: Discussionmentioning

confidence: 97%

“…Tumor-induced osteomalacia (TIO) is usually associated with benign soft tissue or bone neoplasms of mesenchymal origin and is characterized by excessive renal phosphate leading to hypophosphatemia, inappropriately low-normal levels of 1,25-dihydroxyvitamin D (1,25(OH)2 D) and osteomalacia. Long-term oral supplementation of phosphate and vitamin D may also induce secondary or tertiary hyperparathyroidism, confusing further the clinical picture (1) , (2) , while co-existence of TIO with primary hyperparathyroidism is rarely seen (3) , (4) .…”

Section: Introductionmentioning

confidence: 99%

Tumor-induced osteomalacia due to a recurrent mesenchymal tumor overexpressing several growth factor receptors

Yavropoulou

Gerothanasi

Frydas

et al. 2015

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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SummaryTumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused primarily by benign mesenchymal tumors. These tumors typically follow a benign clinical course and local recurrence occurs in <5% of cases. We investigated a 49-year-old man with a recurrent mesenchymal phosphaturic tumor showing no signs of malignancy. The patient suffered from chronic muscle weakness, myalgia and cramps. His medical record included the diagnosis of oncogenic osteomalacia, for which he was submitted to tumor resection in the left leg three times before. Laboratory examination showed hypophosphatemia, hyperphosphaturia and an elevated serum FGF23 level. A radical surgical approach (amputation) was advised, however, complete biochemical and clinical remission was not reached. Molecular analysis of the tumor cells demonstrated overexpression of growth factor receptors implicated in tumor angiogenesis and metastatic potential (platelet derived growth factor type A (PDGFRA), PDGFRB and vascular endothelial growth factor receptor) together with increased expression of FGF23, x-linked-phosphate-regulating endopeptidase and KLOTHO. TIO is usually associated with benign phosphauturic tumors and, when identified, resection of the tumor leads to complete remission in the majority of cases. The underlying pathophysiology of recurrences in these tumors is not known. This is the first report showing increased expression of growth factor receptors in a locally aggressive but histopathologically benign phosphaturic mesenchymal tumor.Learning points TIO is usually associated with benign soft tissue or bone neoplasms of mesenchymal origin.These tumors typically follow a benign clinical course and even in the rare malignant cases local recurrence occurs in <5%.Successful identification and removal of the tumor leads to full recovery in the majority of cases.

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“…TIO has also been reported to be associated with malignant mesenchymal tumors, such as osteosarcoma and fibrosarcoma, as well as solid tumors including prostate and small cell carcinoma (1,3). These tumors produce FGF-23, a phosphaturic hormone, which inhibits renal phosphate reabsorption and reduces renal 1,25(OH) 2 D production, resulting in hypophosphatemia, phosphaturia, and eventual osteomalacia (2,4). When our patient initially presented in 1986, TIO and FGF-23 had not yet been characterized or described.…”

Section: Discussionmentioning

confidence: 99%

“…The most accepted mechanism suggests that THPT results from chronic phosphate replacement due to phosphate forming complexes with calcium, causing transient hypocalcemia and stimulation of PTH secretion (2,14). Other proposed mechanisms include phosphate-and FGF-23-mediated reduction of renal tubule 1,25(OH) 2 D production, leading to stimulation of the parathyroid cells (4,15). Decreased 1,25(OH) 2 D also impairs calcium absorption from the gut, leading to secondary and eventual THPT (2).…”

Section: Discussionmentioning

confidence: 99%

Cinacalcet for Management of Tertiary Hyperparathyroidism Associated with Chronic Treatment of Hypophosphatemia in an Adult with Tumor-Induced Osteomalacia

Aisner

Lubitz

2015

AACE Clinical Case Reports

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Objective: To report the effectiveness of cinacalcet in treating tertiary hyperparathyroidism (THPT) associated with chronic treatment of hypophosphatemia in a patient with fibroblast growth factor-23 (FGF-23)-mediated tumor-induced osteomalacia (TIO). Methods: We review the clinical course, imaging studies, pathology, and results of laboratory testing of our patient and review relevant literature. Results: A 52-year-old woman presented with hypercalcemia. At age 26, she developed hypophosphatemia, inappropriately low levels of calcitriol, calcium, and intact parathyroid hormone (iPTH) and was diagnosed with vitamin D-resistant osteomalacia. She was initiated on high-dose phosphate but remained hypophosphatemic and developed progressive elevation in iPTH levels along with hypercalcemia. Twenty years after the initial presentation, a mass was found on her right forearm, and surgical resection revealed a phosphaturic mesenchymal tumor diagnostic of TIO. Her hypophosphatemia resolved and she was titrated off phosphate supplements; however, the THPT persisted. Treatment with cinacalcet resulted in lowering of calcium levels and normalization of iPTH levels. Conclusion: This may be the first reported case of managing THPT associated with chronic phosphate replacement therapy without parathyroidectomy in an adult with a FGF-23-producing tumor. Medical therapy with cinacalcet should be considered in patients with THPT associated with reversible hypophosphatemia. (AACE Clinical Case Rep. 2015;1:e225-e229) Abbreviations: 1,25(OH) 2 D = 1,25-dihydroxyvitamin D; 18F-FDG PET/CT = 18-fluorodeoxyglucose positron emission tomography/computed tomography; ADHR = autosomal dominant hypophosphatemic rickets; ARHR = autosomal recessive hypophosphatemic rickets; FGF-23 = fibroblast growth factor-23; iPTH = intact parathyroid hormone; TIO = tumor-induced osteomalacia; THPT = tertiary hyperparathyroidism; XLH = X-linked hypophosphatemic rickets

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Coexistence of Tumor-Induced Osteomalacia and Primary Hyperparathyroidism

Cited by 10 publications

References 18 publications

'Tumour-induced osteomalacia'

'Tumour-induced osteomalacia'

Tumor-induced osteomalacia due to a recurrent mesenchymal tumor overexpressing several growth factor receptors

Cinacalcet for Management of Tertiary Hyperparathyroidism Associated with Chronic Treatment of Hypophosphatemia in an Adult with Tumor-Induced Osteomalacia

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