Definitive surgical treatment of osteomalacia induced by skull base tumor and determination of the half-life of serum fibroblast growth factor 23

Hana, Taijun; Tanaka, Shota; Nakatomi, Hirofumi; Shojima, Masaaki; Fukumoto, Seiji; Ikemura, Masako; Saito, Nobuhito

doi:10.1507/endocrj.ej17-0177

Cited by 19 publications

(22 citation statements)

References 24 publications

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“…Phosphorus and FGF-23 levels are used for post-operative surveillance. Half-life of FGF-23 is very short and one can document it immediately post-operatively (93). Persistent elevation of FGF-23 was noted post-operatively in two patients (cases 1 and 6), which normalized on re-evaluation after 3 months.…”

Section: Discussionmentioning

confidence: 99%

Tumor induced osteomalacia in head and neck region: single center experience and systematic review

Shah

Lila

Jadhav

et al. 2019

Endocrine Connections

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Tumor-induced osteomalacia in the head and neck region remains a challenging diagnosis to manage. Literature pertaining to management and outcome details remains sparse. We describe two cohorts: cohort 1 included seven patients from a single center in Western India with tumors located in paranasal sinuses (n = 3), intracranial (n = 2) and maxilla (n = 2). The unique features from our series is the management of persistent disease with radiation therapy (n = 2) and peptide receptor radionuclide therapy (PRRT) (n = 1). Cohort two has 163 patients identified from 109 publications for systematic review. Paranasal sinuses, mandible, intracranial disease, maxilla and oral cavity, in descending order, are reportedly common tumor sites. Within this cohort, mean age was 46 ± 14 years at presentation with 44.1% having local symptoms. Duration of symptoms varied from 1 to 240 months. Pre-surgery mean serum phosphorus was 1.4 ± 0.4 mg/dL and median FGF-23 levels were 3.6 (IQR:1.8–6.8) times of normal upper limit of normal. Majority (97.5%) were managed primarily with surgical excision; however, primary radiotherapy (n = 2) and surgery combined with radiotherapy (n = 2) were also reported. Twenty patients had persistent disease while nine patients had recurrence, more commonly noted with intracranial and oral cavity tumors. Surgery was the most common second mode of treatment employed succeeded by radiotherapy. Four patients had metastatic disease. The most common histopathological diagnosis reported is PMT mixed connective tissue, while the newer terminology ‘PMT mixed epithelial and connective tissue type’ has been described in 15 patients.

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Section: Discussionmentioning

confidence: 99%

Tumor induced osteomalacia in head and neck region: single center experience and systematic review

Shah

Lila

Jadhav

et al. 2019

Endocrine Connections

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“…Finally, the relevance of FGF23 to bone abnormalities in XLH and other diseases of hypophosphatemia has been indicated by various animal experiments and clinical trials. For example, complete resection of FGF23-producing tumours has resolved hypophosphatemia, osteomalacia, bone pain and improved other skeletal manifestations in TIO [128, 129] and administration of FGF23-blocking antibodies has improved growth retardation of juvenile Hyp mice, accelerating weight gain, increasing tail length, decreasing osteoid volume and thus improving bone mineralisation while improving elongation of femoral and tibial bones [130–132]. FGF23 antibodies have also improved levels of serum phosphate, serum calcitriol, and alkaline phosphatase, as well as rickets severity (RSS), radiographic global impression of change (RGI-C), and Western Ontario and the McMaster Universities Osteoarthritis Index (WOMAC) scores in clinical trials involving paediatric or adult patients with XLH (Paediatric trial: NCT02163577; Adult trial NCT02526160) [133–135].…”

Section: Background and Introductionmentioning

confidence: 99%

“…Skeletal muscle wasting, weakness and pain have also been observed in patients with TIO [128, 129, 184]. The lack of either skeletal abnormality or genetic mutation in these patients indicates that FGF23 may contribute to the development of these manifestations either directly or via hypophosphatemia.…”

Section: Background and Introductionmentioning

confidence: 99%

“…Nevertheless, resection of an FGF23-producing tumour has resolved muscle pain in a patient with TIO [128] and therapeutic application of an FGF23-blocking antibody has increased grip strength and spontaneous movement in Hyp mice [131] and led to full recovery of bone and muscle pain when treating patients with iron-induced FGF23-mediated hypophosphatemic osteomalacia [192].…”

Section: Background and Introductionmentioning

confidence: 99%

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FGF23 and its role in X-linked hypophosphatemia-related morbidity

Beck-Nielsen

Mughal

Haffner

et al. 2019

Orphanet J Rare Dis

196

229

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Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked ( PHEX ) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforementioned manifestations of the disease. Elevated FGF23 has also been observed in many other diseases of hypophosphatemia, and a range of animal models have been developed to study these diseases, yet the role of FGF23 in the pathophysiology of XLH is incompletely understood. Methods The role of FGF23 in the pathophysiology of XLH is here reviewed by describing what is known about phenotypes associated with various PHEX mutations, animal models of XLH, and non-nutritional diseases of hypophosphatemia, and by presenting molecular pathways that have been proposed to contribute to manifestations of XLH. Results The pathophysiology of XLH is complex, involving a range of molecular pathways that variously contribute to different manifestations of the disease. Hypophosphatemia due to elevated FGF23 is the most obvious contributor, however localised fluctuations in tissue non-specific alkaline phosphatase (TNAP), pyrophosphate, calcitriol and direct effects of FGF23 have been observed to be associated with certain manifestations. Conclusions By describing what is known about these pathways, this review highlights key areas for future research that would contribute to the understanding and clinical treatment of non-nutritional diseases of hypophosphatemia, particularly XLH.

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“…Different imaging modalities are essential for tumor localizations. Surgery is curative and a wide resection with negative margins is of major importance for preventing recurrence (7).…”

Section: Introductionmentioning

confidence: 99%

Phosphaturic mesenchymal tumors among elderly patients: a case report and review of literature

Zaina

Nikomarov

Weiler-Sagie

et al. 2019

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Summary Phosphaturic mesenchymal tumor (PMT) represents a rare cause of osteomalacia. The clinical signs and symptoms are vague and these lead to diagnosis delay. In the presence of hypophosphatemia and relatively high urine phosphate excretion, this entity should be taken into consideration in the deferential diagnosis of osteomalacia. In the present article, we report 81-year-old man presented to our clinic for evaluation due to osteopenia. His laboratory results disclosed hypophosphatemia, relatively increased urine phosphate excretion and increased level of intact fibroblast growth factor 23 (FGF23). A 68Gallium DOTATATE PET/CT revealed pathological uptake in the upper aspect of the left shoulder adjacent to the coracoid process. For suspected PMT a wide resection of the tumor was performed and pathological findings were consistent for PMT. Laboratory tests were normalized postoperatively. Reviewing the literature, we had identified 33 reported cases of PMTs among elderly patients age ≥70 years. Unlike previously reported data, where tumors predominantly localized in the lower extremities and pelvis, our search disclosed a high rate of tumor localization (10 cases – 33.3%) in the head with equal number of tumors (14 cases – 42.4%) localized in the head and upper extremity as well as in pelvis and lower extremity. The present case describes unique tumor localization in an elderly patient and our literature search demonstrated for the first time a high rate of tumor localization in the head among this group of patients. Learning points: PMTs represent a rare entity that should be considered in the differential diagnosis of elderly patients presented with persistent hypophosphatemia. Unlike previously reported data, head and neck tumor localization is frequent among elderly patients. 68Gallium-conjugated somatostatin peptide analogs, such as 68Ga-DOTATATE PET/CT demonstrated the greatest sensitivity and specificity for tumor localization in patients with phosphaturic mesenchymal tumors (PMTs). Wide tumor resection using intraoperative ultrasound is of major importance in order to ensure long-term cure.

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Definitive surgical treatment of osteomalacia induced by skull base tumor and determination of the half-life of serum fibroblast growth factor 23

Cited by 19 publications

References 24 publications

Tumor induced osteomalacia in head and neck region: single center experience and systematic review

Tumor induced osteomalacia in head and neck region: single center experience and systematic review

FGF23 and its role in X-linked hypophosphatemia-related morbidity

Phosphaturic mesenchymal tumors among elderly patients: a case report and review of literature

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