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"Neoplasms, Connective Tissue - diagnostic imaging"
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Spinal phosphaturic mesenchymal tumors: a rare etiology causing tumor-induced osteomalacia—a review of experience at a UK tertiary referral center and literature review
by
Anwar, Hanny
,
Pannu, Chaitanya Dev
,
Baxter, David
in
Diagnosis
,
Electronic medical records
,
Familiarity
2024
Purpose
This article aims to provide a comprehensive review of the management challenges associated with Spinal Phosphaturic Mesenchymal tumors (PMTs) and evaluates the surgical management outcomes for this rare entity linked to Tumor-induced osteolysis. The primary objective of this study is to enhance the familiarity of treating physicians with the clinical features, diagnosis, and treatment options for Spinal PMTs.
Methods
A retrospective analysis was conducted, reviewing electronic medical records of patients diagnosed with spinal PMTs at our hospital between January 2019 and December 2022. The data collected included demographic information, clinical presentation, radiological findings, surgical details, and follow-up outcomes.
Results
A total of three cases of Spinal PMTs causing Tumor-induced osteomalacia were identified. The diagnosis of Spinal PMTs presented challenges, with incidental detection often occurring during routine imaging. Surgical management was undertaken, resulting in successful symptom resolution and normalization of phosphate levels. The application of 68 Ga-DOTA-TATE PET/CT scans facilitated tumor localization, aiding in surgical planning. Spinal PMTs demonstrated a favorable response to surgical intervention.
Conclusion
Spinal PMTs play a significant role in Tumor-induced osteolysis, warranting timely and accurate diagnosis. Although diagnosing Spinal PMTs presents challenges, surgical management has proven to yield favorable outcomes, effectively alleviating symptoms and restoring phosphate levels. A multidisciplinary approach and continued vigilance are essential in ensuring early diagnosis, effective treatment, and long-term monitoring for patients affected by spinal PMTs.
Journal Article
Treatment and outcomes of tumor-induced osteomalacia associated with phosphaturic mesenchymal tumors: retrospective review of 12 patients
2017
Background
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by severe hypophosphatemia and osteomalacia. Nonspecific symptoms make the diagnosis elusive. In addition, locating the responsible tumor(s) is challenging. The aim of this study was to investigate the clinical management and outcomes of TIO.
Methods
The clinical features, diagnostic procedures, treatment, and outcomes of 12 patients were reviewed retrospectively.
Results
The cohort comprised six men and six women (mean age 45.5 ± 9.9 years, range 23–61 years). The mean duration of disease was 3.7 ± 2.6 years. All patients manifested progressive bone pain, muscle weakness, and/or difficulty walking. Serum phosphorus concentrations were low in all patients (mean 0.42 ± 0.12 mmol/L). Technetium-99m octreotide scintigraphy was performed in 11 patients and showed lesions in the right distal femur, left femoral head, and right tibial plateau, respectively, in three patients. Magnetic resonance imaging (MRI) was negative for lesions in one patient. Two patients underwent biopsies that showed negative histopathology. Two patients, at 2 years and 8 months, respectively, after having negative technetium-99m octreotide studies, underwent
18
F–fluorodeoxyglucose positron emission tomography/computed tomography (CT), which revealed lesions in the sacrum and soft tissue of the left palm, respectively. One tumor was detected by CT and MRI. Overall, lesion sites were the head (two patients, 16.7%), thoracic and lumbar region (two, 16.7%), pelvis (three, 25%), lower limbs (four, 33.3%), and upper limbs (one, 8.3%). All patients underwent surgery, and histopathology showed phosphaturic mesenchymal tumors in each. Postoperatively, serum phosphorus concentrations normalized within 2–7 days in 11 patients. With follow-ups of 1–41 months, surgery was effective in 10 patients. One patient developed local recurrence and another had metastases.
Conclusions
Locating tumors responsible for tumor-induced osteomalacia is often challenging. Although complete tumor resection confers a good prognosis in most patients, surveillance for recurrence and metastasis is necessary. Before surgery or when surgery is not indicated, oral phosphate can alleviate symptoms and metabolic imbalance.
Journal Article
Progressive bone pain caused by a phosphaturic mesenchymal tumor in the left femur: a case report and literature review
by
Yan, Jianfei
,
Wu, Xiaoguang
,
Jiang, Jiangle
in
Adult
,
Bone Neoplasms - complications
,
Bone Neoplasms - diagnosis
2024
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.
Journal Article
Phosphaturic mesenchymal tumor: management and outcomes of ten patients treated at a single institution
by
Gonzalez, Marcos R
,
Lozano-Calderon, Santiago A
,
Chang, Connie Y
in
Ablation
,
Appendicular skeleton
,
Diagnosis
2024
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.
Journal Article
Reports of 17 Chinese patients with tumor-induced osteomalacia
2017
Tumor-induced osteomalacia (TIO) is a rare acquired form of hypophosphatemic osteomalacia, which is usually attributed to the overproduction of fibroblast growth factor 23 (FGF-23) by benign mesenchymal neoplasms. Localization and thereafter surgical resection of tumors lead to a cure. The present study aimed to investigate the clinical data, diagnostic methods, and follow-up after tumor resection at one medical center in Shanghai to characterize the profile of this rare disorder and to share our successful experience in diagnosis and treatment. Twenty-three patients with adult-onset hypophosphatemia osteomalacia seen in Shanghai Sixth People’s Hospital from 2009 to 2014 and 95 normal individuals were enrolled. After taking a medical history and performing a physical examination, we analyzed the laboratory results (including the serum FGF-23 levels) and localized the tumors by
18
F-fluorodeoxyglucose positron emission tomography and computed tomography (
18
F-FDG PET/CT),
99m
Tc-octreotide (
99m
Tc-OCT) scintigraphy, and magnetic resonance imaging (MRI). On the basis of the results of laboratory tests and imaging findings, tumor resection was conducted in 17 patients with a certain diagnosis of TIO. The results demonstrated that the 17 patients (nine men and eight women, average age 46.6 ± 12.9 years) had TIO. FGF-23 level was elevated in 94.1 % of patients (16 of 17 patients) . Serum phosphorus level decreased in 100 % of patients.
18
F-FDG PET/CT revealed five tumors,
99m
Tc-OCT scintigraphy revealed two tumors, physical examination revealed nine tumors, and MRI revealed one tumor, among which 58.8 % of the causative tumors (10 of 17 tumors) were located in the lower extremities. After tumor resection, serum phosphorus levels normalized in 100 % of patients (all 17 patients) in 4–21 days and FGF-23 levels decreased in 90 % of patients (nine of ten patients). We found 64.7 % of the tumors (11 of 17 tumors) were phosphaturic mesenchymal tumors or a phosphaturic mesenchymal tumor mixed connective tissue variant. Measurement of serum phosphorus and FGF-23 levels in patients with suspected TIO is of paramount importance for diagnosing of TIO.
18
F-FDG PET/CT,
99m
Tc-OCT scintigraphy, and physical examination play a considerable role in revealing TIO-associated tumors. TIO-associated tumors were more frequently located in the lower extremities than in other places; thus, the lower extremities need to be carefully checked. Complete surgical resection results in normalization of parameters in laboratory tests and relief of symptoms of TIO patients.
Journal Article
Diagnosis and management of tumor-induced osteomalacia: a single center experience
by
Gul, Nurdan
,
Selcukbiricik, Ozlem Soyluk
,
Bilgic, Bilge
in
Adult
,
Cancer
,
Computed tomography
2023
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.
Journal Article
Calcified or ossified benign soft tissue lesions that may simulate malignancy
2019
The purpose of this article is to review calcified or ossified benign soft tissue lesions that may simulate malignancy. We review the clinical presentations, locations, imaging characteristics, and differential diagnostic considerations of myositis ossificans, tophaceous gout, benign vascular lesions, calcific tendinopathy with osseous involvement, periosteal chondroma, primary synovial chondromatosis, Hoffa’s disease, tumoral calcinosis, lipoma with metaplasia, calcifying aponeurotic fibroma, calcific myonecrosis, ancient schwannoma, and Castleman disease.
Journal Article
Radiofrequency ablation in the treatment of atypical cartilaginous tumours in the long bones: lessons learned from our experience
2019
BackgroundSurgery is the cornerstone of treatment of symptomatic cartilaginous neoplasms. We previously studied the application of radiofrequency ablation of atypical cartilaginous tumours in the long bones. The purpose of the present study was to investigate the additional effect of placing multiple needles and a longer procedure duration on the proportion of completely ablated tumours. Post-ablation MRI findings and the occurrence of complications were also assessed.MethodsWe prospectively included 24 patients with atypical cartilaginous tumours in the long bones. Patients underwent CT-guided radiofrequency ablation followed by curettage with adjuvant phenolisation 3 months later, retrieving material assessed for viable tumour. Before curettage, gadolinium-enhanced MRI was performed to check for residual tumour. The occurrence of complications was noted.ResultsComplete tumour ablation was achieved in 17 out of 24 patients (71%). Complete ablation was achieved in 5 of the 6 cases (83%) when multiple needles were used in tumours ≥30 mm. There was incomplete ablation in 8% of patients. Post-ablation gadolinium-enhanced MRI findings agreed with the histological results in 17 out of 23 cases and there was a negative predictive value of 83%. One patient suffered a fracture after radiofrequency ablation.ConclusionRadiofrequency ablation could be an alternative to curettage when treating atypical cartilaginous tumours in the long bones. It was shown that multiple needle placement in addition to longer duration of the ablation procedure is an effective measure in achieving complete ablation in tumours ≥30 mm. Gadolinium-enhanced MRI has a negative predictive value of 83% and could guide post-ablation follow-up.
Journal Article
Tumor-induced osteomalacia: a case report
2022
Background
Tumor-induced osteomalacia is a rare, acquired paraneoplastic syndrome, including hypophosphatemia, high serum alkaline phosphatase, reduced active vitamin D, suboptimal bone mineral density, bone pain, fragility fractures, and muscle weakness.
Case presentation
We report a case of 74–year–old male of mixed ancestry with hypophosphatemia resistant to treatment despite optimal compliance, associated with profound reduction of bone mineral density and multiple nontraumatic fractures, including bilateral rib fractures, lower-thoracic (T11, T12) vertebrae, and two fractures involving the surgical and anatomical neck of the right humerus. We discuss an approach to identifying the underlying cause of hypophosphatemia associated with fragility fractures, and options for management of this rare condition.
Conclusion
Although rare, tumor-induced osteomalacia can be diagnosed if a logical stepwise approach is implemented. Surgery could be curative if the tumor is properly located and is resectable.
Journal Article