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Phosphaturic mesenchymal tumors (PMTs) can present with vague symptoms of diffuse bone pain with pathologic fractures that often lead to a delayed diagnosis. We present a 60-year-old patient with a PMT that was persistently hypophosphatemic after resection, who was then successfully treated with cryoablation of the tumor. Tumor-induced osteomalacia (TIO) is a rare cause of hypophosphatemia characterized by vague symptoms of gradual muscle weakness and diffuse bone pain with pathologic fractures that often lead to a delayed diagnosis. This condition is usually caused by benign phosphaturic mesenchymal tumors (PMTs). Here, we present a case of persistent PMT after surgical resection treated with image-guided ablation. We present the patient’s clinical examinations and laboratory findings (phosphorus, 1,25 (OH)2d, FGF-23, Intact PTH). Representative histologic images of a PMT are also presented. A 61-year-old male was evaluated for persistent hypophosphatemia and presumed osteomalacia. Six years earlier, he underwent surgical excision of a left ischial mass after presenting with TIO. The pathology was consistent with a PMT; however, hypophosphatemia persisted suggesting incomplete resection. He was treated with calcitriol and phosphate salts. A PET Ga68 dotatate scan of the patient revealed an avid left ischial mixed lytic and sclerotic lesions with marked amount of radiotracer uptake, suggesting persistent tumor. The patient was resistant to re-excision of the tumor due to the extended recovery period from his prior surgery and was treated instead with cryoablation of the tumor. His biochemical findings of hypophosphatemia and elevated FGF23 resolved after the ablation and have remained normal for 5 months after surgery. In patients with TIO, wide surgical excision is the treatment of choice. When this is not possible, image-guided ablation is an alternative therapeutic option.

Tumor-induced osteomalacia (TIO) is a rare, acquired condition of phosphate wasting due to phosphaturic mesenchymal tumors. Because the incidence and prevalence of TIO is unknown, we conducted an observational cohort study using national Danish health registers for the period 2008 to 2018 to obtain such information. The study also aimed to describe the demographics of the TIO population and the prognosis. The operational definition was based on hypophosphatemia or adult osteomalacia diagnoses, combined with prescriptions used in the initial management and procedures consistent with advanced imaging used for locating tumors. The incidence of TIO in Denmark was found to be below 0.13 per 100,000 person years for the total population of the country and 0.10 per 100,000 in adult-onset disease. The prevalence of TIO was estimated to be no more than 0.70 per 100,000 persons for the total population and 0.43 per 100,000 in adults. In 2018, there were a maximum of nine new cases of TIO in Danish adults. Mortality was low but few patients fulfilled the protocol cure criterion during the observation period. TIO has no ICD-10 code and limitations to the study include lack of information on serum biochemistry and on the use of phosphate supplements. Strengths include the use of long-term longitudinal, national hospital and prescription data from a country with universal healthcare. Given the very small patient population with TIO and the known delay to diagnosis and cure, management of patients with suspected TIO should be centralized.

Abstract Context Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome usually caused by oversecretion of fibroblast growth factor 23 (FGF23) from a phosphaturic mesenchymal tumor (PMT). PMTs are usually benign neoplasms but some of them show malignant characteristics. Objective The aim of this study was to compare the clinical characteristics of benign and malignant PMTs inducing TIO. Methods On March 31, 2023, we performed a systematic review of individual patient data analysis in Medline, Google Scholar, Google book, and Cochrane Library using the terms “tumor induced osteomalacia,” “oncogenic osteomalacia,” “hypophosphatemia,” with no language restrictions and according to Preferred Reporting Items for Systematic reviews and Meta-Analyses criteria. Results Overall, we collected data from 837 patients with TIO in which the diagnosis of benign and malignant PMT was specified. Of them, 89 were affected by malignant PMT and 748 by benign PMT. Patients with malignant PMTs were younger and presented bone pain, functional impairment, and bone deformities more frequently. Malignant PMTs showed higher values of intact FGF23 and a higher mortality rate. Conclusion The study results identify the clinical characteristics of patients with malignant TIO, permitting the early identification of patients with PMT at increased risk of malignancy. This may significantly improve the diagnostic approach to disease. Further experimental studies are mandatory to clarify the role of FGF23 in the pathogenesis of malignancy in PMTs.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by hypophosphatemia, bone mineralization disorders with increased risk of fragility fractures, muscle pain, and progressive weakness. TIO has been associated with increased production of the phosphaturic hormone Fibroblast Growth Factor 23 (FGF23) usually by mesenchymal tumors of soft tissue or bone (Phosphaturic Mesenchymal Tumors—PMTs). In rare cases TIO may be observed in association with other malignancies. We report the case of a 66-year-old woman with an occasional diagnosis of both a PMT and an ovarian cancer during the evaluation of TIO. We also systematically review the literature to discover possible correlations between osteomalacia, FGF23 production, and ovarian cancer. Four studies were eligible for the analysis. Two case reports described an association between TIO development and ovarian cancer, whereas the two case-control studies hypothesized a possible correlation between FGF/FGF receptor axis and cancer development. Although it does not provide conclusive evidence regarding the association between TIO and ovarian cancer, this case report highlights the possibility that in the diagnostic workup of suspected TIO, both FGF23-secreting tumors distinct from PMT and tumors unrelated to the clinical presentation of TIO could be identified. This information is important for guiding successful tumor staging and determining the necessity for surgical intervention and/or eventual adjuvant therapy.

Background Due to its occult position, complex anatomical structure, and spatial relationships, the causative tumor of Tumor-Induced Osteomalacia (TIO) in the hip region is quite difficult to detect and qualitatively diagnose in clinical practice. In this regard, clinicians often lack sufficient knowledge about such tumors, leading to frequent missed diagnoses, misdiagnoses, and unreasonable treatment. Objective This study aimed to investigate the clinical characteristics of TIO patients with culprit soft tissue tumors in the hip region and evaluate the effect of surgical treatment on these individuals to improve clinicians’ understanding of the rare phenomenon. Methods The clinical data of all patients, from January 2013 to January 2023, who underwent surgical treatment for hip located culprit soft tissue tumors by the subspecialty group on bone and soft tissue tumors at our institution, were retrospectively analysed. Specifically, the clinical characteristics and therapeutic effects were examined and the patients’ clinical experience was summarized. Results Twenty-two patients, who met the inclusion criteria, were included. All patients experienced varying degrees of bone pain, commonly accompanied by weakness (16/22) and limited mobility (21/22), and 10 patients (45.5%) experienced a significant reduction in body height during the course of the disease. All patients underwent orthopedic surgery in the hip region, as hypophosphatemia occurred in all of them. Pathological diagnosis was confirmed to be consistent with causative tumors of TIO. All patients experienced a gradual increase in serum phosphorus postoperatively during short-term follow-up. The follow-up period was between 1 and 10 years, and the postoperative serum phosphorus levels were monitored at our hospital or other facilities close to the patients. Conclusions Oncogenic soft tissue tumors for TIO in the hip region are occult, making clinical misdiagnoses or missed diagnoses highly likely. Therefore, enhancing the clinician’s understanding of this rare condition is imperative. Notably, for TIO patient whose culprit tumor can be located, complete surgical resection of the causative tumor is the best treatment option. Furthermore, close postoperative monitoring of serum phosphorus is necessary, and patients should be subjected to long-term follow-up for prompt detection of recurrent conditions. Highlights Tumor-induced osteomalacia caused by causative soft tissue tumor in the hip region is a rare entity, resulting in great challenges to orthopedists. Qualitative and localized diagnosis led by multi-disciplinary team is a prerequisite for subsequent surgical intervention. For the inguinally located culprit tumors, it may be quite effective after remove the culprit tumor directly and surgical resection may bring huge benefit. Exploring the site of onset of the causative tumor is beneficial for improving the treatment strategy of orthopedic surgery and understanding the prognostic characteristics of TIO patients.

Background Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by mesenchymal tumors that secrete fibroblast growth factor 23 (FGF23). Phosphaturic mesenchymal tumor (PMT) is a novel histopathologic entity that has been identified as a separate cause of TIO. Clinically, PMT is typically diagnosed late due to its rarity. Case presentation The paper reports on a patient with a sustained left-sided sub-trochanteric femur fracture in 2018 who subsequently underwent fracture reduction and internal fixation placement. Six years postoperatively, the patient developed a recurrent femoral stem fracture accompanied by internal fixation device failure on the left side of the femur with no apparent causative factors. Based on the patient’s history of multiple fractures, a series of tests were performed and he was diagnosed with a rare disease recognized as TIO. A PET-CT scan conducted prior to surgery revealed that the lesion was located in the right suprapatellar bursa, so the mass was palpated on the body surface and surgically excised. Conclusions It is the first reported case of TIO in a patient with internal fixation device failure. Following a thorough review of the patient’s medical history, examination findings, and associated literature, the study concluded that the patient’s long-term osteomalacia and hypophosphatemia would significantly compromise the stability of the internal fixation. Specifically, we determined that the primary tumor lesion in this case was the primary cause of internal fixation failure. Therefore, patients found to have difficult-to-correct hypophosphatemia with multiple fractures in clinical practice should be further investigated for the primary etiology, such as TIO as mentioned in this case, before fracture surgery is performed. Enhancing 68 Ga-DOTA-TATE Positron Emission Tomography/ Computed Tomography (PET/CT) is also recommended to provide a more precise diagnosis of the tumor. For definite tumor lesions, total excisional surgery is considered to be a viable treatment for TIO.

Phosphaturic mesenchymal tumors are rare, usually benign neoplasms that occur in the soft tissue or bone and are the cause of nearly all cases of tumor-induced osteomalacia. Tumor-induced osteomalacia due to phosphaturic mesenchymal tumor is a challenging diagnosis to make—patients present with variable clinical and radiologic findings and the culprit neoplasm is often small and can occur anywhere head to toe. We present two cases of phosphaturic mesenchymal tumor in the scapular body and plantar foot. In both cases, the patient endured years of debilitating symptoms before a tissue diagnosis was eventually reached. Descriptions of clinical presentation, laboratory workup, surgical resection, and imaging characteristics, with a focus on CT, MRI, and functional imaging, are provided to assist with the diagnosis and management of this rare entity. A brief review of current literature and discussion of the differential diagnoses of phosphaturic mesenchymal tumor is also provided.

BackgroundPhosphaturic mesenchymal tumor (PMT) is a rare tumor that causes tumor-induced osteomalacia. Patients present with non-specific symptoms secondary to renal phosphate wasting and decreased bone mineralization. We sought to assess: (1) What are the common presenting features, laboratory and imaging findings, histologic findings of phosphaturic mesenchymal tumors? (2) What are the available treatment strategies for phosphaturic mesenchymal tumors and their long-term outcomes in terms of local recurrence and symptom control after treatment?MethodsWe retrospectively identified patients with a histologic diagnosis of PMT located in the axial or appendicular skeleton, or surrounding soft tissues. A total of 10 patients were finally included in our study.ResultsMedian tumor size was 1.9 cm (range, 1.1 to 6.1) and median time from symptom onset to diagnosis was 3 years (range, 0.5 to 15 years). All patients but one presented with hypophosphatemia (median 1.9 mg/dL, range 1.2 to 3.2). Pre-operative FGF-23 was elevated in all cases (median 423.5 RU/mL, range 235 to 8950). Six patients underwent surgical resection, three were treated percutaneously (radiofrequency ablation or cryoablation), and one refused treatment. Only one patient developed local recurrence and no patients developed metastatic disease. At last follow-up, nine patients showed no evidence of disease and one was alive with disease.ConclusionPhosphaturic mesenchymal tumor is a rare tumor presenting with non-specific symptoms. Surgery is the standard treatment when negative margins can be achieved without significant morbidity. In patients with small tumors in surgically-inaccessible areas, radiofrequency ablation or cryoablation can be performed successfully.

Purpose The aim of this study is to review the clinical and laboratory characteristics, diagnostic and treatment modalities of tumor-induced osteomalacia (TIO) cases managed in a single center. Material methods Demographic and clinical features, biochemical findings, diagnostic procedures, treatment modalities, and outcomes of nine patients who had the diagnosis of TIO were reviewed retrospectively. Results Mean age of the study group (F/M: 4/5) was 45.8 ± 10.8 years, and mean time from the onset of symptoms to diagnosis was 4.7 ± 2.8 years. The clinical manifestations were muscle weakness and difficulty in walking (8/9), hip pain (3/9), multiple fractures (2/9), stress fracture (2/9). Mean plasma phosphorus concentration was 1.28 ± 0.4 mg/dl at presentation. We performed radionuclide imaging modalities (18F-FDG PET/CT, Ga68-DOTATATE PET/CT, octreotide scintigraphy) in seven of nine patients, and tumor was detected in all. Lower extremity ( n  = 6; %67), head region ( n  = 2; %22) and thorax ( n  = 1; %11) were the tumor locations of our cases. Eight patients underwent surgery and remission was achieved postoperatively in all of the operated patients and plasma phosphorus level normalized in 4 ± 2 days. Pathological examination revealed mesenchymal tumors with different subtypes. Recurrence occurred in three patients at 13 ± 10.5 months after the first surgery. Two patients were reoperated and radiotherapy was also performed in one of them. Conclusion Hypophosphatemia necessitates careful evaluation for the etiology. TIO is one of the important causes of adult-onset hypophosphatemic osteomalacia. Diagnosis of TIO is essential because the laboratory and clinical findings resolve after appropriate treatment.

[...]the patient underwent MR head and spine for further evaluation. [...]the decision was made to proceed with surgery to establish a definitive diagnosis and also to decompress the sacral nerve roots to possibly improve her bladder function. In a patient with a clinical diagnosis of oncogenic osteomalacia, 68Ga-DOTATATE PET-CT is the most sensitive study in localizing occult PMT5.