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Phosphaturic mesenchymal tumor (PMT) is a rare tumor causing bone complications and myopathy. Histologically, PMT displays a mix of spindled cells, osteoclast-like giant cells, basophilic matrix, and flocculent or grungy calcification. Here we describe a case of PMT in the right hip and proximal femur, initially suspected to be multiple myeloma, presenting with osteolytic lesions and elevated alkaline phosphatase. Tests for malignancy were negative, but a subsequent biopsy confirmed PMT. The patient underwent hip biopsy, femur resection, and hemiarthroplasty, with follow-up MRI recommended.

Phosphaturic mesenchymal tumors (PMTs) are rare tumors that can cause tumor-induced osteomalacia (TIO) through overproduction of FGF23, a peptide hormone that causes renal phosphate wasting and reduced osteoblastic activity. The diagnosis of PMTs can be difficult to make as the presenting symptoms are non-specific. Although PMT is a rare entity, most cases are benign in nature, not requiring further intervention after surgery, as resection is typically curative. Here, we present a unique case of malignant PMT with de novo liver metastasis in a female patient who presented with TIO and underwent surgical resection of her primary lesion with subsequent regression of her liver metastasis. Moreover, we analyze a review of literature and discuss the importance of a timely diagnosis of this rare phenomenon. It is encouraged that providers strongly consider a diagnosis of PMT in patients with otherwise unexplained bone pain, fatigue, weakness, especially if accompanied with hypophosphatemia. Further studies are also warranted to identify prognostic factors that predict a PMTs malignant potential as they may help identify possible therapeutic targets.

The clinical, radiological, and histopathological features of chondromyxoid fibroma can sometimes resemble those of other benign or malignant tumors. Recently, recurrent GRM1 rearrangements have been identified in chondromyxoid fibroma, and GRM1 positivity by immunohistochemistry has emerged as a dependable surrogate marker for this molecular alteration. Phosphaturic mesenchymal tumor is a rare tumor that often exhibits overexpression of fibroblastic growth factor 23 (FGF23) through various mechanisms. In this report, we present a case of GRM1 -rearranged chondromyxoid fibroma that also exhibited FGF23 expression via in situ hybridization, posing significant diagnostic challenges during workup of the initial core biopsy. We hope that this case can serve as an educational resource, shedding light on a rare diagnostic pitfall. [ABSTRACT FROM AUTHOR]

Phosphaturic mesenchymal tumor (PMT) is a rare tumor causing bone complications and myopathy. Histologically, PMT displays a mix of spindled cells, osteoclast-like giant cells, basophilic matrix, and flocculent or “grungy” calcification. Here we describe a case of PMT in the right hip and proximal femur, initially suspected to be multiple myeloma, presenting with osteolytic lesions and elevated alkaline phosphatase. Tests for malignancy were negative, but a subsequent biopsy confirmed PMT. The patient underwent hip biopsy, femur resection, and hemiarthroplasty, with follow-up MRI recommended.

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. [ABSTRACT FROM AUTHOR]

Background: Phosphaturic 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? Methods: We 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. Results: Median 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. Conclusion: Phosphaturic 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Phosphaturic mesenchymal tumors (PMT) are rare and distinctive tumors that typically result in paraneoplastic syndrome known as tumor-induced osteomalacia (TIO). We report a case of bilateral osteoporotic femoral neck fracture caused by PMT. PMT was surgically resected, followed by sequential treatment of bilateral femoral neck fractures with total hip arthroplasty (THA). A 49-year-old perimenopausal woman experienced consistent bone pain with limb weakness persisting for over 2 years. Initially, she was diagnosed with early osteonecrosis of the femoral head and received nonsurgical treatment. However, from 2020 to 2022, her pain extended to the bilateral shoulders and knees with increased intensity. She had no positive family history or any other genetic diseases, and her menstrual cycles were regular. Physical examination revealed tenderness at the midpoints of the bilateral groin and restricted bilateral hip range of motion, with grade 3/5 muscle strength in both lower extremities. Laboratory findings revealed moderate anemia (hemoglobin 66 g/L), leukopenia (2.70 × 109 /L), neutropenia (1.28 × 109 /L), hypophosphatemia (0.36 mmol/L), high alkaline phosphatase activity (308.00 U/L), and normal serum calcium (2.22 mmol/L). After surgery, additional examinations were performed to explore the cause of hypophosphatemic osteomalacia. After definitive diagnosis, the patient underwent tumor resection via T11 laminectomy on August 6, 2022. Six months after the second THA, the patient regained normal gait with satisfactory hip movement function without recurrence of PMT-associated osteomalacia or prosthesis loosening. By providing detailed clinical data and a diagnostic and treatment approach, we aimed to improve the clinical understanding of femoral neck fractures caused by TIO. [ABSTRACT FROM AUTHOR]

Spinal phosphaturic mesenchymal tumor (PMT) is a rare disorder but can be cured once the diagnosis is clear and a complete removal by surgery is performed. To the best of our knowledge, only 22 cases in the spine have been described, and we report a case with the largest number of spinal segments (T12-L5) affected among spine PMT cases. A comprehensive literature search was performed until May 23, 2023, following the Preferred Reporting Items for Systematic Reviews guidelines. Studies were chosen through relevant PubMed, Web of Science, and EMBASE searches to prioritize obtaining the largest studies. The Medical Subject Headings and Boolean operators employed for this search were ("PMT" or "TIO" or "Tumor-induced osteomalacia" or "phosphaturic mesenchymal tumor") and ("spine" or "spinal"). Two researchers (L.S.Z. and D.B.C) independently reviewed and evaluated the included articles. Any differing opinions were discussed until a consensus was reached. A total of 18 studies were included. A case report is also presented. We report a case of spinal PMT. The full text of the relevant articles was construed. A total of 18 studies were reviewed and consolidated. These articles are roughly divided into the following 5 subcategories: 1) clinical features and baseline distribution, 2) laboratory and imaging findings, 3) pathological manifestations, and 4) surgical methods and treatment options. Spinal PMT is very rare with a high rate of misdiagnosis and debilitating complications, so it is of significance to increase awareness of the disease among spine surgeons consulted by patients with spinal PMT. 68Ga-DOTATOC-PET/CT shows very high sensitivity to the spinal PMT but there is no way to exactly determine the location of the tumor. PMT has unique immunohistochemical characteristics and malignant PMT is rare. Once diagnosed, complete surgical excision is the recommended treatment. Burosumab is one of the available options, especially in cases that are recurrent and difficult to surgically resect. [ABSTRACT FROM AUTHOR]

Objective: Rare disease Background: Phosphaturic mesenchymal tumor (PMT) is an extremely rare mesenchymal neoplasm that is commonly seen in bone and soft tissue. It is associated with a paraneoplastic syndrome, oncogenic osteomalacia, due to tumor-induced urinary phosphate wasting. It is demonstrated to be predominantly mediated by fibroblast growth factor 23 (FGF23)/fibroblast growth factor receptor 1 (FGFR1) axis. Clinically, PMT usually presents as a solitary lesion in the bone. The diagnosis of PMT is challenging due to its non-specific clinical manifestation, radiologic findings, and morphological features. Case Report: We report the case of a 50-year-old man presenting with multiple lytic bone lesions and associated pathologic fracture of the right femur, clinically suspicious for multiple myeloma or other metastatic malignant process. Resection from the right femur showed a hypercellular lesion composed of oval-to-spindled cells infiltrating the native trabecular bone with admixed multinucleated giant cells. Immunohistochemical (IHC) staining and in situ hybridization (ISH) demonstrated the tumor cells were positive for SATB2, ERG, FGFR1, and FGF23 ISH. DNA and RNA next-generation sequencing showed marked increases in mRNA levels of FGF23 and FGFR1. The constellation of clinicoradiologic, histomorphologic, IHC, and molecular findings supported a diagnosis of primary benign PMT. Conclusions: This case report discusses a patient with PMT presenting with multifocal lesions due to tumor-induced osteomalacia at initial presentation. We hope that this report will increase the awareness of clinician and pathologists of PMT as a differential diagnosis in patients presenting with multifocal lytic bone lesions. In turn, this will prevent misdiagnosis and overtreatment of a typically benign process. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Phosphaturic mesenchymal tumor (PMT) is a rare disorder primarily affecting the extremities. It is notable for its correlation with hypophosphatemic osteomalacia and high FGF23 serum levels, which results in renal phosphate wasting and clinical symptoms associated with low serum phosphorus. We presented a patient with a 5‐year history of progressive osteomalacia who recently experienced a major pathological bone fracture. Laboratory findings showed a persistent low serum phosphate, normal calcium, elevated alkaline phosphatase activity, high parathyroid hormone levels, and increased renal excretion of phosphate. According to ultrasonography and nuclear imaging, there was no evidence of parathyroid adenoma. During further diagnostic assessment, a sinonasal cavity tumor was found and resected. Histologically, the tumor was composed of bland spindle cell proliferation in the background of a calcified matrix with foci of osteoid formation, hemangiopericytoma‐like (HPC‐like) vasculature, and osteoclast‐like giant cells. Tumor cells showed variable positivity for SMA, but CD34, S100, CD99, Melan‐A, p63, and desmin were all nonreactive. Regarding the clinical context, histological and immunohistological findings, a final diagnosis of tumor‐induced osteomalacia (TIO) secondary to a PMT was made. After surgery, laboratory results returned to normal, clinical symptoms disappeared, and the patient did not experience a recurrence during a six‐month follow‐up. [ABSTRACT FROM AUTHOR]

Phosphaturic mesenchymal tumor is a rare clinical condition and often causes osteomalaciadue to tumor. Its diagnosis is often significantly delayed due to its rare occurrence in addition to the generalized and vague symptoms of their presentation. A 19-year-old female with a history of left facial nerve palsy, generalized weakness and hoarseness of voice revealed a dense mass in her brain. In this case, we reported successful application of a Ga-68 labeled DOTATATE PET/CT scan to identify the primary site and distant metastases of phosphaturic mesenchymal tumors and show the diagnostic value of Ga-68 labeled DOTATATE PET/CT imaging for the rare tumors. [ABSTRACT FROM AUTHOR]

The present case report is aimed to highlight the difficulty and the reason for the delayed diagnosis of phosphaturic mesenchymal tumors, emphasizing the need of standardized protocols for diagnosis, surgery and follow-up in high-volume hospitals. The clinical signs and symptoms, diagnostic and therapeutic procedures, immunohistological features were analyzed. Delayed diagnosis of phosphaturic mesenchymal tumor was primarily due to non-specific clinical symptoms such as fatigue, muscular and bone pain, and multiple fractures. This cryptic clinical picture made the diagnosis tricky that led to treatment of patient for non-specific pain and stress fractures before to consider the tumor-induced osteomalacia syndrome. Some well-documented studies were found in the literature in which the history of trauma is a critical trigger of glomus tumors. Extra-subungual tumors most frequently occur in the knee and ankle regions, particularly among young adults, and the diagnosis is typically made approximately 7.2 years after initial symptom onset. The difficult tumor localization represented an additional obstacle to the prompt treatment, leading to delayed curative surgery.

Tumor-induced osteomalacia is caused by excessive fibroblast growth factor 23 production mainly from phosphaturic mesenchymal tumors. Surgical excision or tumor ablation are the preferred treatment. Information on bone microarchitecture parameters assessed by high-resolution peripheral quantitative computed tomography is limited. We report a woman with hypophosphatemic osteomalacia with generalized pain, weakness and recurrent fractures, and a large thoracic vertebral mass extending to the posterior mediastinum. Detailed radiologic and histopathologic evaluation revealed a phosphaturic mesenchymal tumor. Two surgeries were necessary for complete removal of the mass. Clinical symptoms improved after attaining normophosphatemia. Four-year post-surgical HR-pQCT parameters, compared to baseline, showed in the left distal radius, stable trabecular and cortical volumetric bone mineral density although below reference range. There was stability of trabecular number and thickness. Both stiffness and failure load decreased. A shift in cortical parameters was noted in year 2. In the left distal tibia, trabecular volumetric bone mineral density decreased whereas cortical volumetric bone mineral density markedly increased, as did cortical area. There was stability in the trabecular number and thickness. Both stiffness and failure load improved. Findings from HR-pQCT measurements in this patient disclosed that the healing of osteomalacia is not similar across the peripheral skeletal sites in the first years following tumor removal. Results contrasted low but stable volumetric bone mineral density in the distal radius with increase in the distal tibia at the expense of cortical bone. Our report helps further delineate the pattern of bone healing after treatment of this rare bone disorder.

Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is very rare, with about 1000 reported cases globally. Removing most TIO culprit tumors requires the evaluation and intervention of orthopedic doctors. However, orthopedic doctors often have a poor understanding of the optical treatment of TIO due to its rarity. In addition, most TIO patients lack specific clinical manifestations. Also, the clinical localization and qualitative diagnosis of TIO are difficult and thus can easily be misdiagnosed and mistreated. Furthermore, the true incidence rate of TIO may be underestimated. Although many breakthroughs have been made in exploring the pathogenesis, clinical diagnosis, and treatment of TIO, rational and standardized orthopedic surgical treatment experience summary and sorting for TIO patients are lacking. In this article, the recent experience and progress in the field of orthopedic surgical treatment for TIO globally have been summarized, providing a theoretical basis and new clinical practice guidance for the rational treatment of TIO patients.

Phosphaturic mesenchymal tumor is a rare tumor characterized by paraneoplastic osteomalacia. The diagnosis is often delayed because of nonspecific symptoms and difficulty to localize the tumor. In this study we report a case of PMT of the left femur detected by Ga-68-DOTATATE PET-CT with radiological features mimicking osteoid osteoma. We report a 31-year-old female patient who presented to our hospital for evaluation due to progressive bone pain and muscle weakness. Her laboratory data showed hypophosphatemia and increased fibroblast growth factor 23 (FGF-23) together with reduced bone mineral density on bone densitometry. The diagnosis of PMT was suspected and the tumor was identified on Ga-68-DOTATATE PET-CT as a focal uptake in a lucent lesion of the left femoral head with a central sclerotic dot mimicking a nidus as seen in osteoid osteoma. The lesion was treated with percutaneous radiofrequency ablation. Laboratory tests and bone densitometry rapidly improved post-treatment. The present case emphasizes the difficulty to diagnose PMT due to its nonspecific biochemical and clinical presentation and the relevance of functional imaging for locating these tumors despite different radiological presentation.

Key Clinical Message Phosphaturic mesenchymal tumor (PMT) is a rare disorder primarily affecting the extremities. It is notable for its correlation with hypophosphatemic osteomalacia and high FGF23 serum levels, which results in renal phosphate wasting and clinical symptoms associated with low serum phosphorus. We presented a patient with a 5‐year history of progressive osteomalacia who recently experienced a major pathological bone fracture. Laboratory findings showed a persistent low serum phosphate, normal calcium, elevated alkaline phosphatase activity, high parathyroid hormone levels, and increased renal excretion of phosphate. According to ultrasonography and nuclear imaging, there was no evidence of parathyroid adenoma. During further diagnostic assessment, a sinonasal cavity tumor was found and resected. Histologically, the tumor was composed of bland spindle cell proliferation in the background of a calcified matrix with foci of osteoid formation, hemangiopericytoma‐like (HPC‐like) vasculature, and osteoclast‐like giant cells. Tumor cells showed variable positivity for SMA, but CD34, S100, CD99, Melan‐A, p63, and desmin were all nonreactive. Regarding the clinical context, histological and immunohistological findings, a final diagnosis of tumor‐induced osteomalacia (TIO) secondary to a PMT was made. After surgery, laboratory results returned to normal, clinical symptoms disappeared, and the patient did not experience a recurrence during a six‐month follow‐up.

Phosphaturic mesenchymal tumor (PMT) is a rare paraneoplastic syndrome characterized by renal phosphate wasting, hypophosphatemia, and bone calcification disorders. Complete surgical resection of the tumor is believed to be the most effective treatment measure. However, the diagnosis of PMT is very difficult because of its insidious and small size, especially, when it appears in subcutaneous tissue with a chronic non-healing wound. We report a rare case of a 38-year-old man with a chronic non-healing wound on the left hallux for approximately eight months. Plain radiographic images and magnetic resonance imaging (MRI) revealed a cystic radiolucent shadow in the left distal phalanx. Bone scan observations also showed increased uptake in the same location. Histologically, this tumor was composed of numerous spindle cells with clusters of giant cells. The serum FGF23 level was significantly higher before surgery, with higher FGF23 levels closer to the tumor. Reverse transcription polymerase chain reaction and immunohistochemistry further confirmed the high expression of FGF23 in tumors. These data suggest that FGF23 may be a potential causative factor of PMT. The serum FGF23 levels might be useful for the diagnosis of PMT and localization of the tumor. The tumor was CD56- and D2 to 40-positive and CD31-negative. The non-healing wound caused by PMT might be attributed to the invasive growth of the tumor, destruction of intercellular junctions, and decrease in the number of endothelial cells. [ABSTRACT FROM AUTHOR]

Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that causes tumor‐induced osteomalasia (TIO) in most affected patients, usually through the production of fibroblast growth factor 23 (FGF23). This tumor is often misdiagnosed due to its relative rarity and its widely varied histomorphologic spectrum. Here we describe a case of a 78‐year‐old woman who presented with a left middle tumor without symptoms of TIO. The histological features resembled chondromyxoid fibroma with smudgy calcification in the tumor matrix. In addition, we evaluated FGF23 expression through immunohistochemical study and reverse transcription polymerase chain reaction. PMT with chondromyxoid fibroma features are extremely rare. Examining the expression of FGF23 is useful in the diagnosis of PMT. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Osteonecrosis of femoral head (ONFH) is clinically common and easily diagnosed via imaging examination, especially when there is a definite cause, such as a fracture, long-term hormonotherapy, etc. However, some rare neoplastic lesions of the femoral head can mimic its image performance in some situations, leading to misdiagnosis. We present the case of a 57-year-old male with bone pain in the left hip joint that persisted for 2 years. CT and MRI images were performed and both were suggestive of ONFH. Unexpectedly, the histopathologic results of left proximal femur resection revealed the diagnosis of phosphaturic mesenchymal tumor (PMT), a rare mesenchymal tumor. His hip pain was obviously relieved after surgery, and the course of 1-year follow-up was uneventful. [ABSTRACT FROM AUTHOR]

Abstract Shivam Bansal Mohit Dhingra Background Oncogenic osteomalacia term used for tumor-induced osteomalacia (TIO) is a paraneoplastic syndrome of abnormal phosphate metabolism secondary to ectopic endocrine tumors. The diagnosis often becomes difficult due to rarity of occurrence and deficient literature. The reconstruction following resection has its own technical difficulties, which are addressed in this article. Presentation of Case A 39-year-old female presented with pain in bilateral lower limbs and difficulty in mobilizing. The patient had unexplained hypophosphatemia which was diagnosed due to tumor (arising ectopically in greater trochanter), inducing osteomalacia. She was managed successfully with excision of tumor and reconstruction. The biochemical parameters improved drastically within 5 days and fracture healed in 6 weeks' time. Conclusion TIO is a debilitating disease with significant morbidity due to prolonged onset to diagnosis interval and difficulty in localizing the causative tumor. So thorough clinico-radiological and laboratory parameter correlation is a necessity. A rapid diagnosis followed by complete surgical excision, which remains the gold standard treatment modality that confers favorable prognosis in most patients, with strict vigilance for recurrence is required.

Background: In this paper, we present a rare case of tumor-induced osteomalacia (TIO) and a literature review of this rare disease. Methods: A case of TIO of the isolated sphenoid sinus was reported. Furthermore, the clinical features of TIO in the sphenoid sinus and other sinonasal sinuses were also reviewed and summarized. Results: A 35-year-old man with muscle weakness and lower back pain came to the Department of Neurology. No obvious neurological disease was found; however, magnetic resonance imaging of the extremities accidentally showed a tumor in the axilla. Bone scintigraphy showed suspicious bone metastasis. Hypophosphatemia was neglected. Interestingly, 2-deoxy-2-[fluorine-18]fluoro- D-glucose positron emission tomography/computed tomography (18F-FDG PET/ CT) detected a tumor in the axilla and another in the sphenoid sinus, but only the tumor in the sphenoid sinus had somatostatin receptor (SSTR) expression in 68- gallium 1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid octreotate (Ga- 68 DOTATATE) PET/CT. The sphenoid sinus tumor was proven to be a phosphaturic mesenchymal tumor (PMT), and the phosphate levels returned to normal after surgery. The literature review showed only 17 cases of TIOs that occurred in the sphenoid sinus, with an average age of 43.3 ± 13.7 years. Only three cases of TIOs in the sphenoid sinus did not invade the nasal cavity or other paranasal sinuses, which could be identified as isolated sphenoid sinus diseases. We compared the clinical features of sphenoid TIOs with those of non-sphenoid sinonasal TIOs, and it was found that the concentration of 1,25-dihydroxy vitamin D in the group with sphenoid TIOs was much higher than that in the group with non-sphenoid sinonasal TIOs. A total of 153 cases of TIOs in the sinonasal sinus were reviewed. The ethmoid sinus was found to be the major site (64.7%), followed by the nasal cavity (50.3%), maxillary sinus (19.0%), frontal sinus (16.4%), and sphenoid sinus (11.8%). There were 66 patients (43.1%) who showed tumors invading more than one sinus. Most of the tumors (69.3%) were diagnosed as PMTs by pathology, followed by hemangiopericytoma (14.3%). Immunostaining was beneficial in the differential diagnosis of these tumors; however, larger sample sizes are needed for better accuracy. Conclusion: TIO in the sinonasal sinus, especially in the sphenoid sinus, is rare. Moreover, isolated sphenoid sinus disease can be easily misdiagnosed. When the clinical manifestation of osteomalacia is atypical, associating it with sphenoid sinus disease is evenmoredifficult. Thus, TIO in the sphenoid sinus needs further exploration. [ABSTRACT FROM AUTHOR]

Context Tumor-induced osteomalacia (TIO) is one of the most common forms of acquired fibroblast growth factor 23 (FGF23)-related hypophosphatemia and is usually caused by phosphaturic mesenchymal tumors (PMTs). Although the complete resection of PMTs can cure TIO, preoperative localization of tumors by standard imaging modalities is often challenging. In addition to 18F-fluoro-2-deoxy-D-glucose positron emission tomography–computed tomography (FDG-PET) and 111In-pentetreotide scintigraphy (SRS), systemic FGF23 venous sampling (FGF23VS) has been used to help localize PMTs in specialized institutions. Objective This study aimed to evaluate the diagnostic performance of each imaging test and their combinations in localizing PMTs. Methods In an observational retrospective study of patients with adult-onset FGF23-related osteomalacia who underwent all 3 imaging studies (FDG-PET, SRS, and FGF23VS), the rate of successful preoperative localization of the tumors was evaluated only in the patients with pathological diagnoses of PMTs, considering the possibility that pathogenesis of patients without identified tumors might be due to other causes such as late-onset hereditary FGF23-related hypophosphatemia. Results A total of 30 Japanese patients with TIO (median age, 60 years [range, 28-87 years]; 10 women [33.3%]) were included in the study. The success rate of preoperative localization for each test and combinations of 2 or 3 tests among 18 patients with PMTs was as follows: 72% (FDG-PET), 72% (SRS), 94% (FGF23VS), 89% (FDG-PET, SRS), 100% (FDG-PET, FGF23VS), 94% (SRS, FGF23VS), and 100% (FDG-PET, SRS, and FGF23VS). Conclusion We observed the highest localization rate of PMTs in patients with identified PMTs with the combination of FDG-PET and FGF23VS. [ABSTRACT FROM AUTHOR]

Phosphaturic mesenchymal tumor (PMT) is a rare tumor that secretes fibroblast growth factor 23 (FGF23) and causes hypophosphatemia and tumor-induced osteomalacia (TIO). Fusion genes FN1-FGFR1 and FN1-FGF1 have been detected in some PMTs, but the pathogenesis of PMTs without these fusion genes remains unclear. Here, we report a 12-year-old boy with persistent muscle weakness and gait disturbance. Roentgenographic examination revealed a radiolucent lesion with endosteal scalloping in the left fibula, while his serum level of FGF23 was markedly increased. Combined with simple X-ray findings of other body parts, we suspected that TIO was caused by PMT, and resected the tumor. After resection, the serum level of FGF23 started to decrease immediately and normalized within 3 hours after resection, with this being earlier than normalization of the serum phosphorus level. In RNA sequencing, FN1-FGFR1 and FN1-FGF1 were not detected, but a novel NIPBLBEND2 fusion gene was identified. When we forcedly expressed this fusion gene in HEK293T cells and MG63 cells, cell proliferation was enhanced in both cell lines. Furthermore, Gene set enrichment analysis of HEK293T cells showed significant upregulation of MYC-target genes. Our results suggest that this novel NIPBL-BEND2 fusion gene promotes cell proliferation possibly via the MYC pathway and might be one of the etiologies of PMTs other than FN1- FGFR1 or FN1-FGF1. [ABSTRACT FROM AUTHOR]

Phosphaturic mesenchymal tumor (PMT) is a rare tumor that secretes fibroblast growth factor 23 (FGF23) and causes hypophosphatemia and tumor-induced osteomalacia (TIO). Fusion genes FN1-FGFR1 and FN1-FGF1 have been detected in some PMTs, but the pathogenesis of PMTs without these fusion genes remains unclear. Here, we report a 12-year-old boy with persistent muscle weakness and gait disturbance. Roentgenographic examination revealed a radiolucent lesion with endosteal scalloping in the left fibula, while his serum level of FGF23 was markedly increased. Combined with simple X-ray findings of other body parts, we suspected that TIO was caused by PMT, and resected the tumor. After resection, the serum level of FGF23 started to decrease immediately and normalized within 3 hours after resection, with this being earlier than normalization of the serum phosphorus level. In RNA sequencing, FN1-FGFR1 and FN1-FGF1 were not detected, but a novel NIPBL-BEND2 fusion gene was identified. When we forcedly expressed this fusion gene in HEK293T cells and MG63 cells, cell proliferation was enhanced in both cell lines. Furthermore, Gene set enrichment analysis of HEK293T cells showed significant upregulation of MYC-target genes. Our results suggest that this novel NIPBL-BEND2 fusion gene promotes cell proliferation possibly via the MYC pathway and might be one of the etiologies of PMTs other than FN1-FGFR1 or FN1-FGF1.

Background: Phosphaturic mesenchymal tumor (PMT) is a very rare tumor of bone and soft tissue that has no specific clinical manifestations. Here we present 2 cases of PMT in the right thigh, including comparatively adequate immunohistochemistry. Case Presentation: We described 2 cases of PMT in the right thigh with manifestations of hypophosphatemia. PET-CT examination showed that both patients had lesions with increased expression of somatostatin receptors in the right thigh. Bland cells and dirty calcified stroma were exhibited under the microscope. And immunohistochemical detection of FGF-23 was positive. Conclusions: PMT is a very uncommon tumor for which diagnosis and treatment are often delayed. Considering the importance of surgery for the treatment of this disease, a full understanding of its clinicopathological features will facilitate the diagnosis of this disease. [ABSTRACT FROM AUTHOR]

Conventional high-grade osteosarcomas are characterized by aggressive radiologic features, cytologic pleomorphism, and complex genomics. However, rare examples of osteosarcomas remain challenging due to unusual histology, such as sclerosing or osteoblastoma-like features, which may require molecular confirmation of their complex genetic alterations. We have encountered such a case in a 17-year-old man, who presented with a third metatarsal sclerotic bone lesion, found incidentally in the work-up of a foot trauma. The initial imaging revealed a lesion with sclerotic/blastic features proximally and lucent/lytic portion distally, findings interpreted consistent with osteoblastoma. The lesion was managed intra-lesionally with curettings and cryoablation; however, the microscopic findings were non-specific, showing a bland osteoblastic proliferation embedded in a densely sclerotic matrix. Subsequently, the patient developed two rapid recurrences; the first recurrence was treated similarly despite its associated soft tissue extension radiographically, and the histologic findings remained non-specific. The 2nd recurrence showed a large mass, with bone destruction and soft tissue extension and an open biopsy revealed features of osteosarcoma with lace-like osteoid deposition, albeit with uniform cytomorphology. The subsequent below knee amputation showed features compatible with high-grade osteosarcoma, including solid growth of uniform epithelioid cells, with vesicular nuclei and scant cytoplasm, set in a lace-like meshwork of osteoid matrix. There was significant mitotic activity and tumor necrosis. Tumor cells were positive for SATB2. Further molecular work-up was performed showing an unexpected NIPBL::BEND2 fusion, which has been previously reported in two cases of phosphaturic mesenchymal tumor (PMT). FGF23 (ISH) was performed and was negative. By DNA methylation profiling, unsupervised clustering and UMAP dimensionality reduction revealed grouping with high-grade osteosarcomas and not with the PMT group. The patient received chemotherapy post-amputation and is alive without evidence of disease, with 10-month follow-up. We report an aggressive, overtly malignant acral bone-forming tumor, harboring a NIPBL::BEND2 fusion. Further studies are needed to evaluate the recurrent potential of this fusion in osteosarcomas and its relationship with PMT., (© 2024 Wiley Periodicals LLC.)

This is the case of a 56-year-old Hispanic male with a history of multiple fractures and electrolyte abnormalities, including hypophosphatemia and phosphaturia. Physical examination, imaging studies, and laboratory workup may have suggested the presence of a phosphaturic mesenchymal tumor (PMT) causing osteomalacia. The patient underwent surgery for en bloc tumor removal, and the histopathological analysis confirmed the presence of neoplastic cells consistent with PMT with minimal immunohistochemical positivity to S100 protein, which is atypical for this type of tumor. This case highlights the challenges in diagnosing PMTs due to their rarity and variable presentation. It emphasizes the importance of considering PMT in the differential diagnosis for unexplained hypophosphatemia and osteomalacia-like symptoms, especially in persistent disease after parathyroidectomy for presumed primary hyperparathyroidism. The atypical immunohistochemical profile observed in this case contributes to the growing body of knowledge about the heterogeneity of PMTs and underscores the need for comprehensive diagnostic approaches in suspected cases., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Bibiloni Lugo et al.)

Phosphaturic mesenchymal tumors (PMTs) are extremely rare mesenchymal tumors of soft tissue and bone that cause tumor-induced osteomalacia (TIO). Some of these tumors are completely asymptomatic and may grow undetected unless they become large enough to cause pain or discomfort. This type of tumor is crucial to diagnose in patients being treated for phosphate metabolism disorders and are a rare reason why patients seek medical help owing to pain. Here, we report the details of a patient with progressive bone pain caused by a PMT originating in the left femur., Competing Interests: Declaration of conflicting interestsThe authors declare that there is no conflict of interest.

Resumen: Introducción: El tumor mesenquimal fosfatúrico (TMF) es una causa poco frecuente de osteomalacia oncogénica (OO), síndrome paraneoplásico que puede cursar con clínica severa en el aparato locomotor. El TMF es una neoplasia mesenquimal productora del factor de crecimiento fibroblástico FGF23, a consecuencia del cual se produce hiperfosfaturia e hipofosfatemia resultando en el cuadro de OO. Nuestro objetivo es presentar nuestra experiencia y las complicaciones en el diagnóstico y tratamiento del TMF mostrando una serie de 3 casos. Material y métodos: Planteamos un estudio observacional, descriptivo y retrospectivo de 3 casos de TMF como causa de OO encontrados tras búsqueda en el sistema de registro digital del hospital y nuestra base de datos de tumores del aparato locomotor. Los criterios de inclusión fueron los siguientes: cuadro clínico de OO, presencia de hipofosfatemia hiperfosfatúrica, niveles elevados de FGF23 en sangre y diagnóstico patológico de TMF. Resultados: En todos los casos, la enfermedad comenzo en forma de astenia, dolores óseos inespecíficos, limitación funcional progresiva y presencia de fracturas patológicas. El tiempo medio de retraso diagnóstico fue de 7 años. Analíticamente, todos presentaban una hipofosfatemia hiperfosfatúrica, elevación de los niveles de fosfatasa alcalina y de FGF23. La utilización del octreoscan y el PET/TAC fueron fundamentales para la localización del tumor productor y su posterior biopsia. El tratamiento fue la cirugía en 2 casos y un caso mediante crioterapia dirigida por TAC con control neurofisiológico. Una vez intervenidos se normalizaron los parámetros analíticos. No hemos registrado recidivas hasta la fecha. Conclusiones: El TMF constituye una entidad rara en el campo de los tumores de partes blandas y óseos, ya que puede darse en ambos tipos de tejido. Debido a la producción del FGF23, ocasiona una alteración en la homeostasis fósforo-calcio. El retraso diagnóstico es la norma, lo cual conlleva a comorbilidades renales y esqueléticas. Para evitarlo, es preciso el conocimiento de la entidad junto con una alta sospecha diagnóstica. El tratamiento quirúrgico conlleva la normalización analítica y del cuadro sistémico. Abstract: Introduction: The 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 methods: We 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. Results: In 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. Conclusions: Phosphaturic 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.

Phosphaturic mesenchymal tumour (PMT) is a rare tumour that occurs in bone or soft tissue and is associated with production of fibroblast growth factor 23 (FGF23) leading to tumor-induced osteomalacia. We report three cases of PMT involving the head and neck that highlight the broad spectrum of clinical and histologic features of PMT. One of these lesions from the hard palate demonstrated an admixture of epithelial and mesenchymal elements, a feature that can pose a diagnostic challenge. The diagnostic utility of immunohistochemistry including FGF23, somatostatin receptor 2A, SATB2, ERG and CD56 is discussed. The biochemical pathway in the development of PMT associated tumor induced osteomalacia and its role in investigations and management of PMT is also described. [ABSTRACT FROM AUTHOR]

Abstract Background A phosphaturic mesenchymal tumor (PMT) is classified into four histological subtypes: mixed connective tissue, osteoblast-like, non-ossifying fibroma-like, and ossifying fibroma-like. The ossifying fibroma-like subtype being extremely rare. Most PMTs are benign, with a minimal number becoming malignant after recurrence. In this study, we report a case of recurrence and malignant transformation of PMT-ossifying fibroma-like subtype in the left hip bone. Case presentation Here, we report the clinical manifestations, histology, pathological features, and treatment of a 57-year-old Chinese woman with a recurrent and malignant ossifying fibroma-like subtype PMT of the left iliac bone. The tumor was first discovered 3 years ago when the patient underwent surgery to remove the tumor. Precisely 2 years and 6 months after the operation, the pain in the left hip reappeared. After 6 months, the patient went to our hospital for treatment. After the tumor resection, the postoperative symptoms improved significantly, and the serum alkaline phosphatase level returned to normal. Based on clinical manifestations, evaluation of serum biochemical indicators, X-ray examination, computerized tomography scan of the pelvis, and histopathological examination of the two operations, the patient was finally diagnosed with a recurring and malignant transformation of the left iliac bone phosphaturic mesenchymal tumor-ossifying fibroma-like subtype. No tumor recurrence was found during the follow-up 15 months after the operation. Conclusions This case increases the awareness of a rare malignant subtype of PMT and provides a valuable reference for the diagnosis of this disease.

Tumor-induced osteomalacia is a paraneoplastic syndrome resulting in renal phosphate wasting and decreased bone mineralization. Phosphaturic mesenchymal tumors represent a rare etiology of tumor-induced osteomalacia. They are exceptionally rare, probably accounting for < 0.01% of all soft tissue tumors. Most PMTs present as small inapparent lesions that require very careful clinical examination and radionucleotide scan for localization. Here we describe a case in a 65 years old woman with recurrent multiple bone fractures and subsequent detection of a tumor involving right femur and adjacent soft tissue, low phosphate level and elevated serum Fibroblast growth factor-23 (FGF-23).

Osteonecrosis of femoral head (ONFH) is clinically common and easily diagnosed via imaging examination, especially when there is a definite cause, such as a fracture, long-term hormonotherapy, etc. However, some rare neoplastic lesions of the femoral head can mimic its image performance in some situations, leading to misdiagnosis. We present the case of a 57-year-old male with bone pain in the left hip joint that persisted for 2 years. CT and MRI images were performed and both were suggestive of ONFH. Unexpectedly, the histopathologic results of left proximal femur resection revealed the diagnosis of phosphaturic mesenchymal tumor (PMT), a rare mesenchymal tumor. His hip pain was obviously relieved after surgery, and the course of 1-year follow-up was uneventful.

Objectives: Phosphaturic mesenchymal tumor (PMT) is a rare, polymorphous neoplasm with a highly variable presentation and natural history and unpredictable clinical course. The primary objective was to describe our clinical experience with and management of 4 markedly different cases of sinonasal and skull base PMT. Methods: A retrospective case series with chart review, and relevant literature review, was performed at a tertiary academic medical center between 1998 and 2020. Adult patients treated for PMTs of the sinonasal area and skull base were included. Our main outcome measures included postoperative laboratory findings and radiological evidence of disease remission. Results: Four patients (2 Males, 2 Females; Mean Age: 63.5 years) with PMTs of the skull base have been managed at our institution since 1998. Patient presentations varied, ranging from severe phosphorus wasting and osteoporosis to symptoms secondary to mass effect, including nasal obstruction and rhinorrhea. All 4 patients were eventually found to have elevated levels of fibroblast growth factor 23. Tumors were located in the sinonasal area (right frontal sinus, right ethmoid sinus, and right nasal cavity, respectively) in 3 patients and in the lateral skull base (right jugular foramen) in 1 patient. All 4 patients underwent complete surgical resection of their tumors. PMT tissue pathology was confirmed in all cases. Gross total resection was achieved in all patients. There was no chemical or radiological evidence of disease recurrence in any patients at follow-up. Conclusions: The presentation of skull base PMT is variable, and it may mimic other mass pathologies of the head and neck. Complete surgical resection with negative margins is potentially curative. [ABSTRACT FROM AUTHOR]

Malignant phosphaturic mesenchymal tumors (PMT) of the head and neck region are extremely rare, which cause paraneoplastic syndrome characterized by hypophosphatemia and osteomalacia. We report a 48-year-old gentleman who had persistent knee and calf pain associated with weakness in lower limbs on presentation. He had hypophosphatemia and elevated FGF-23 and 68 Ga-DOTANOC PET scan showed soft tissue density mass with increased peripheral radiotracer uptake in the left mandibular alveolus and adjoining floor of the mouth, revealing the primary tumor. It also showed a non-avid, histological inconclusive nodule of 17 × 12 mm in size in the lower lobe of the right lung. The patient was treated with composite resection and bilateral level I–III neck dissection with microvascular free fibula osteocutaneous flap mandibular reconstruction. Histopathological examination showed malignant PMT with positive soft tissue margins and bilateral metastatic cervical lymphadenopathy. The patient received adjuvant radiation therapy and sequential post therapy scans showed no evidence of locoregional disease, however showed progressive functional pulmonary metastatic disease which did not respond to chemotherapy. We also made a brief review of literature of head and neck malignant PMT focusing on presentation, primary and adjuvant treatment, and response to treatment. [ABSTRACT FROM AUTHOR]

Tumor-induced osteomalacia (TIO) is an uncommon type of osteomalacia associated with phosphaturic mesenchymal tumors (PMTs). Due to nonspecific symptoms, the diagnosis and appropriate management of the disease is often delayed for many years. Involvement of spine with TIO associated tumors is exceedingly rare. We present a 53-year-old woman with a 10-year history of bone pain, muscle weakness and multiple bone fractures that markedly impaired her quality of life. Biochemical evaluation revealed hypophosphatemia due to renal phosphate wasting and elevated plasma fibroblast growth factor 23 (FGF-23) concentration indicating PMT. It was found using 68Ga DOTA TOC PET/CT scan in the vertebral body L2. The patient underwent surgical resection of the tumor. Postoperatively, there was a significant decrease in phosphaturia, normalization of serum phosphate, 1.25 dihydroxyvitamin D and plasma FGF23 concentration. Thereafter the patient's condition markedly improved concerning her motility and basic daily activities.This case report demonstrates the first known case of TIO in the Slovakia and points to a long way from onset of symptoms toward correct diagnosis and successful surgical management.

Oncogenic osteomalacia is a rare paraneoplastic syndrome and is associated with the presence of phosphaturic mesenchymal tumor (PMT) which results in renal phosphate wasting with hypophosphatemia. In total, 95% of cases reported in upper and lower extremities and in head and neck are a rare site for these tumors. Besides osteomalacia, the clinical presentation includes bone pain and multiple bone fractures. Only fewer cases of PMT are reported in the oral cavity. The presentation of this rare case in a young patient was palatal swelling mimicking like an abscess which was clinically and by advanced imaging evaluated and histopathological findings confirmed the rare presentation. Following the surgical excision, the serum level of FGF23 rapidly decreased, hypophosphatemia improved, and the clinical symptoms greatly improved. The result suggests that the overexpressed FGF23 primary tumor in the palate was the cause of osteomalacia which is a rare entity. [ABSTRACT FROM AUTHOR]

BACKGROUND: Phosphaturic mesenchymal tumor (PMT) is a very rare tumor of bone and soft tissue that has no specific clinical manifestations. Here we present 2 cases of PMT in the right thigh, including comparatively adequate immunohistochemistry. CASE PRESENTATION: We described 2 cases of PMT in the right thigh with manifestations of hypophosphatemia. PET-CT examination showed that both patients had lesions with increased expression of somatostatin receptors in the right thigh. Bland cells and dirty calcified stroma were exhibited under the microscope. And immunohistochemical detection of FGF-23 was positive. CONCLUSIONS: PMT is a very uncommon tumor for which diagnosis and treatment are often delayed. Considering the importance of surgery for the treatment of this disease, a full understanding of its clinicopathological features will facilitate the diagnosis of this disease. [ABSTRACT FROM AUTHOR]

Tumor-induced osteomalacia is a very rare paraneoplastic syndrome. It can be caused by phosphaturic mesenchymal tumor (PMT), a generally benign tumor that produces fibroblast growth factor 23 (FGF-23), which can cause a severe renal phosphate wasting syndrome. Upon complete surgical removal of the tumor, FGF-23 normalizes and the osteomalacia is cured. In cases in which surgery is not feasible, radiofrequency ablation (RFA) is the treatment of choice. We describe a case with a PMT situated in the sacrum, in close proximity to the sacral plexus. Both surgery and RFA were considered potentially nerve damaging. Since the tumor showed expression of somatostatin receptors, we opted for a peptide receptor radionuclide therapy (PRRT) with 177Lu-DOTATOC. However, the therapy did not show the expected success, since the FGF-23 level had even temporarily increased. The patient was then successfully treated with RFA. A partial remission of the tumor was achieved and FGF-23 levels nearly normalized. Despite some severe neurological side effects, the patient showed a remarkable clinical improvement, with no symptoms of osteomalacia within a few weeks.

We describe an unexpected and unique case of phosphaturic mesenchymal tumor in a 38-year-old female presenting with a painful lump in the plantar hindfoot. Phosphaturic mesenchymal tumors are extremely rare, generally benign soft tissue or osseous tumors, which are associated with overexpression of fibroblast growth factor-23 and tumor-associated osteomalacia. Patients often present with progressive signs and symptoms including systemic bone pain, muscle weakness, and insufficiency fractures, and timely diagnosis is paramount to appropriate therapy. Tumor resection is almost always curative with normalization of laboratory markers and resolution of symptomatology.

Introduction: Phosphaturic mesenchymal tumors (PMTs) are rare bone neoplasms with diverse clinical presentations, often posing diagnostic challenges., Case Report: We describe the case of a 37-year-old female schoolteacher with a PMT localized in the distal femur. Diagnostic indicators included hypophosphatemia, hyperphosphaturia, elevated fibroblast growth factor-23 levels, and clinical symptoms of osteomalacia. Surgical management involved tumor resection and limb salvage surgery with a megaprosthesis. The post-operative period was uneventful, leading to a stable discharge. On follow-up, the patient showed no signs of recurrence, regained full ambulation, remained pain-free, and resumed teaching comfortably., Conclusion: This case highlights the importance of considering PMT in patients with unusual clinical symptoms, accompanied by hypophosphatemia, hyperphosphaturia, and osteomalacia, and demonstrates successful surgical management, leading to a favorable outcome., Competing Interests: Conflict of Interest: Nil, (Copyright: © Indian Orthopaedic Research Group.)

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. [ABSTRACT FROM AUTHOR]

Background: A phosphaturic mesenchymal tumor (PMT) is classified into four histological subtypes: mixed connective tissue, osteoblast-like, non-ossifying fibroma-like, and ossifying fibroma-like. The ossifying fibroma-like subtype being extremely rare. Most PMTs are benign, with a minimal number becoming malignant after recurrence. In this study, we report a case of recurrence and malignant transformation of PMT-ossifying fibroma-like subtype in the left hip bone.Case Presentation: Here, we report the clinical manifestations, histology, pathological features, and treatment of a 57-year-old Chinese woman with a recurrent and malignant ossifying fibroma-like subtype PMT of the left iliac bone. The tumor was first discovered 3 years ago when the patient underwent surgery to remove the tumor. Precisely 2 years and 6 months after the operation, the pain in the left hip reappeared. After 6 months, the patient went to our hospital for treatment. After the tumor resection, the postoperative symptoms improved significantly, and the serum alkaline phosphatase level returned to normal. Based on clinical manifestations, evaluation of serum biochemical indicators, X-ray examination, computerized tomography scan of the pelvis, and histopathological examination of the two operations, the patient was finally diagnosed with a recurring and malignant transformation of the left iliac bone phosphaturic mesenchymal tumor-ossifying fibroma-like subtype. No tumor recurrence was found during the follow-up 15 months after the operation.Conclusions: This case increases the awareness of a rare malignant subtype of PMT and provides a valuable reference for the diagnosis of this disease. [ABSTRACT FROM AUTHOR]