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Saudi Journal of Kidney Diseases and... Nov 2023Tumor-induced osteomalacia (TIO) is a disorder in which the clinical signs and symptoms of osteomalacia and the biochemical abnormalities of hypophosphatemia,...
Tumor-induced osteomalacia (TIO) is a disorder in which the clinical signs and symptoms of osteomalacia and the biochemical abnormalities of hypophosphatemia, phosphaturia, and low serum levels of 1,25(OH)2 Vitamin D3 are secondary to a neoplasm. A 33-year-old woman presented with musculoskeletal pain and proximal myopathy with a duration of 2.5 years which was treated with Vitamin D supplements. On the basis of the biochemical tests and histopathology, she was reevaluated and found to have TIO secondary to a phosphaturic mesenchymal tumor. The tumor was resected (limb salvage with endoprosthesis), and she had no pain or weakness at followup. The case reminds the readers to consider the possibility of TIO when evaluating patients with isolated hypophosphatemia, which may lead to long-term disability and prolonged morbidity if untreated. Early recognition and diagnosis of TIO is crucial since resection of the tumor usually reverses its manifestations.
Topics: Humans; Female; Adult; Osteomalacia; Paraneoplastic Syndromes; Hypophosphatemia; Muscular Diseases; Mesenchymoma; Treatment Outcome; Limb Salvage; Biopsy; Neoplasms, Connective Tissue
PubMed: 38725216
DOI: 10.4103/sjkdt.sjkdt_250_23 -
Turk Kardiyoloji Dernegi Arsivi : Turk... Apr 2024Intimal sarcomas (IS) are rare, malignant, rapidly progressive mesenchymal tumors that typically occur in the tunica intima of larger vessels, and they rarely involve...
Intimal sarcomas (IS) are rare, malignant, rapidly progressive mesenchymal tumors that typically occur in the tunica intima of larger vessels, and they rarely involve the heart. IS are frequently misdiagnosed during the initial clinical presentation. This case report describes an uncommonly located IS, highlighting specific findings obtained through multimodality imaging.
Topics: Humans; Mitral Valve Insufficiency; Mitral Valve Stenosis; Multimodal Imaging; Heart; Sarcoma; Mesenchymoma
PubMed: 38573094
DOI: 10.5543/tkda.2023.76062 -
Indian Journal of Pathology &... Apr 2024Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal tumors, associated with long-standing, non-specific but often debilitating symptoms in the affected patients.... (Review)
Review
BACKGROUND
Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal tumors, associated with long-standing, non-specific but often debilitating symptoms in the affected patients. These tumors display characteristic histopathological features and in case, identified timely, can be a boon for patients, given an excision is completely curative.
AIMS
To evaluate the clinical and histopathological features of 10 PMTs, diagnosed at our institution, along with clinical outcomes in those patients.
MATERIALS AND METHODS
This was a retrospective study, wherein 10 PMTs, diagnosed from January 2013 to July 2022, were included.
RESULTS
The average age at the time of diagnosis was 40 years with an M:F ratio of 4:1. Clinical features included lumps, weakness, bone pain, difficulty in moving and walking, and pathologic fractures. The biochemical analysis showed normal serum calcium levels (average = 9.5 mg/dL), with low serum phosphorus (average = 2.2 mg/dL) and raised serum fibroblast growth factor 23 (FGF23) levels, in all the cases, wherever available. On histopathology, all tumors showed cells arranged in a hemangiopericytomatous pattern, including oval to short spindle forms. Multinucleate giant cells were present in nine tumors, and characteristic "grungy calcifications" was observed in eight tumors. Prominent pseudo cystic spaces were seen in eight tumors. A significant number of mitotic figures and tumor necrosis were not seen in any tumor. In five cases where follow-up was available, there was complete resolution of symptoms post-resection with no recurrence or metastasis. All those patients were free of disease until the last follow-up.
CONCLUSION
This constitutes the first largest comprehensive study on these rare tumors from our country. PMTs can be diagnosed based on certain histopathological features and correlation with clinicoradiological and biochemical findings. These are invariably benign neoplasms. Patients are relieved of their debilitating symptoms after adequate surgical tumor resection. Therefore, their correct and timely diagnosis is crucial.
Topics: Adult; Female; Humans; Male; Middle Aged; Young Adult; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Hypophosphatemia; Mesenchymoma; Phosphorus; Retrospective Studies; Treatment Outcome
PubMed: 38394416
DOI: 10.4103/ijpm.ijpm_295_23 -
The American Journal of Case Reports Feb 2024BACKGROUND Phosphaturic mesenchymal tumor (PMT) is an extremely rare mesenchymal neoplasm that is commonly seen in bone and soft tissue. It is associated with a...
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.
Topics: Male; Humans; Middle Aged; Neoplasms, Connective Tissue; Soft Tissue Neoplasms; Mesenchymoma; Lower Extremity; Femur; Paraneoplastic Syndromes; Osteomalacia
PubMed: 38361352
DOI: 10.12659/AJCR.942810 -
Skeletal Radiology Aug 2024Phosphaturic mesenchymal tumor (PMT) is a rare tumor that causes tumor-induced osteomalacia. Patients present with non-specific symptoms secondary to renal phosphate...
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.
Topics: Humans; Male; Female; Retrospective Studies; Adult; Osteomalacia; Middle Aged; Mesenchymoma; Adolescent; Treatment Outcome; Neoplasms, Connective Tissue; Paraneoplastic Syndromes; Fibroblast Growth Factor-23; Child; Aged; Hypophosphatemia; Young Adult; Magnetic Resonance Imaging
PubMed: 38351410
DOI: 10.1007/s00256-024-04614-6 -
Clinical Nuclear Medicine May 2024A 68 Ga-DOTATATE PET/CT scan was conducted to locate the causative tumor responsible for suspected tumor-induced osteomalacia in a 56-year-old woman. The PET/CT images...
A 68 Ga-DOTATATE PET/CT scan was conducted to locate the causative tumor responsible for suspected tumor-induced osteomalacia in a 56-year-old woman. The PET/CT images showed a focus in the right occipital region. Subsequent MRI showed an extra-axial nodule in the right occipital region, mimicking a meningioma. Although rare, an intracranial phosphaturic mesenchymal tumor was still suspected because of the typical clinical settings. Finally, phosphaturic mesenchymal tumor was confirmed by the postoperative pathology.
Topics: Female; Humans; Middle Aged; Positron Emission Tomography Computed Tomography; Neoplasms, Connective Tissue; Positron-Emission Tomography; Soft Tissue Neoplasms; Mesenchymoma; Meningeal Neoplasms; Organometallic Compounds; Radionuclide Imaging
PubMed: 38271243
DOI: 10.1097/RLU.0000000000005066 -
World Neurosurgery Apr 2024Spinal 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... (Review)
Review
BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSIONS
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. Ga-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.
Topics: Humans; Neoplasms, Connective Tissue; Positron Emission Tomography Computed Tomography; Mesenchymoma; Soft Tissue Neoplasms; Spine
PubMed: 38218444
DOI: 10.1016/j.wneu.2024.01.032 -
International Journal of Surgery Case... Jan 2024Primary malignant cardiac mesenchymoma tumors are rarely described in the medical literature, with only a few published cases.
INTRODUCTION
Primary malignant cardiac mesenchymoma tumors are rarely described in the medical literature, with only a few published cases.
CASE PRESENTATION
We present a case of a primary malignant mesenchymoma in the left atrium extending to the left and right inferior pulmonary vein orifices, accompanied by mechanical obstruction of the mitral valve. The patient underwent surgical removal and radiotherapy.
DISCUSSION
Cardiac tumors are categorized as primary and secondary tumors. Primary cardiac tumors are extremely rare, with a low incidence rate of 0.001-0.28 %. Primary malignant tumors constitute less than 25 % of them. Malignant mesenchymoma is considered the rarest of them. These tumors proliferate and may cause metastases, making them highly malignant with a poor prognosis, especially if accompanied by metastases or invasion of nearby tissues.
CONCLUSION
The poor prognosis of cardiac mesenchymoma comes from the fact that it is aggressive and rapidly growing, which causes a rapid progression of mechanical symptoms and metastasis to nearby tissues, which makes it classified as a highly malignant tumor with a low survival rate. Surgical resection remains the mainstay of treatment, in addition to follow-up with chemotherapy or radiotherapy according to the grade of the disease, which was the case with our patient and the same as reported in previous literature. However, further research and case reports are needed better to understand the optimal management of this aggressive tumor.
PubMed: 38159393
DOI: 10.1016/j.ijscr.2023.109186 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Dec 2023
Topics: Humans; Mesenchymoma; Soft Tissue Neoplasms; Osteomalacia
PubMed: 38058054
DOI: 10.3760/cma.j.cn112151-20230727-00031 -
The Journal of Clinical Endocrinology... Feb 2024Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome usually caused by oversecretion of fibroblast growth factor 23 (FGF23) from a phosphaturic mesenchymal...
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.
Topics: Humans; Osteomalacia; Neoplasms, Connective Tissue; Fibroblast Growth Factors; Paraneoplastic Syndromes; Soft Tissue Neoplasms; Mesenchymoma
PubMed: 38006315
DOI: 10.1210/clinem/dgad690