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Journal of Orthopaedic Science :... Sep 2021Phosphaturic mesenchymal tumors primarily cause tumor-induced osteomalacia, a rare paraneoplastic syndrome, and half occur in soft tissues. There are few reports about...
BACKGROUND
Phosphaturic mesenchymal tumors primarily cause tumor-induced osteomalacia, a rare paraneoplastic syndrome, and half occur in soft tissues. There are few reports about the surgical margins of these tumors. This study aimed to clarify the optimal surgical margin for phosphaturic mesenchymal tumors by analyzing radiological and histopathological features.
METHODS
This study included eight cases, seven primary and one recurrent, of tumor-induced osteomalacia caused by soft-tissue phosphaturic mesenchymal tumors that were surgically treated between January 2000 and January 2019. We evaluated the radiological and histopathological features of all tumors and investigated the correlation of these features, the surgical margin, and recurrence of hypophosphatemia.
RESULTS
The tumors were located in superficial (n = 5) and deep (n = 3) tissues. Six of the eight tumors had a clear boundary, but five had an irregular margin. Three tumors had a hypointense rim on T2-weighted images, indicating fibrous tumor encapsulation. Histopathological analysis revealed infiltrative growth in six of the eight tumors, which correlated with an irregular margin seen on imaging. Although there was no recurrence in patients treated with an intended wide margin >1 cm, one of the three patients treated with marginal tumor resection experienced a recurrence of hypophosphatemia, with histopathological analysis showing infiltration of subcutaneous fat. In contrast, two tumors with clear boundaries, regular margins, and fibrous capsule seen on imaging, had no infiltrative growth and were cured by marginal resection. In one recurrent case, tumor infiltration was observed in the previous surgical scar, which was not detected on preoperative imaging.
CONCLUSIONS
Soft-tissue phosphaturic mesenchymal tumors with an irregular boundary seen on imaging tend to be infiltrative, especially into subcutaneous fat, and should be treated by at least a 1-cm wide margin resection. Tumors with a fibrous capsule with clear and regular margins are cured by marginal margin resection. These findings could inform surgeons' decisions regarding the resection of soft-tissue phosphaturic mesenchymal tumors.
Topics: Humans; Margins of Excision; Mesenchymoma; Neoplasm Recurrence, Local; Neoplasms, Connective Tissue; Soft Tissue Neoplasms
PubMed: 32798110
DOI: 10.1016/j.jos.2020.07.006 -
The Journal of Foot and Ankle Surgery :... 2022We report the case of a phosphaturic mesenchymal tumor of the ankle; an extremely rare lesion that causes osteomalacia via paraneoplastic renal phosphate wasting. A... (Review)
Review
We report the case of a phosphaturic mesenchymal tumor of the ankle; an extremely rare lesion that causes osteomalacia via paraneoplastic renal phosphate wasting. A 41-year-old man was referred to plastic surgery with a swelling over the anterior ankle, which had been increasing in size for 1 year. Focused ultrasound assessment was inconclusive, but excision biopsy demonstrated features in keeping with a phosphaturic mesenchymal tumor. Evidence of tumor-induced osteomalacia was subsequently identified on review of historical biochemistry. The patient was followed-up for 1 year with normalization of serum phosphate. In this case report, we present a discussion of the differential diagnosis for foot and ankle soft tissue lesions, and a review of the literature regarding the diagnosis and management of these tumors. Accurate identification of any soft tissue lesion on clinical examination alone is extremely challenging and excision biopsy should be considered in cases of diagnostic uncertainty.
Topics: Adult; Ankle; Humans; Hypophosphatemia; Male; Mesenchymoma; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes
PubMed: 34384701
DOI: 10.1053/j.jfas.2021.07.019 -
Chinese Medical Journal Feb 2023
Topics: Humans; Soft Tissue Neoplasms; Mesenchymoma; Paraneoplastic Syndromes
PubMed: 36657042
DOI: 10.1097/CM9.0000000000002223 -
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 -
Journal of Pathology and Translational... Jan 2021Fibrocartilaginous mesenchymoma is a rare bone tumor, with fewer than 35 cases reported in the literature since 1984. This tumor usually occurs in the long bones of...
Fibrocartilaginous mesenchymoma is a rare bone tumor, with fewer than 35 cases reported in the literature since 1984. This tumor usually occurs in the long bones of children and adolescents. In the current case, the tumor affected a rib. A 17-year-old boy presented with a mass in the right fifth rib. Radiologic findings revealed an osteolytic mass with cortical destruction and calcification; en bloc resection was performed. The tumor showed three distinct histologic features: bland spindle cell proliferation, benign cartilage nodules, and epiphyseal plate-like enchondral ossification. The pathologic diagnosis was fibrocartilaginous mesenchymoma. The patient remains free of disease 1 year after the surgery. Pathological diagnosis of fibrocartilaginous mesenchymoma can be challenging, especially when the tumor occurs in an unusual site. When any fibro-osseous lesion with a cartilaginous component is encountered, the possibility of fibrocartilaginous mesenchymoma should be considered because of its locally aggressive behavior.
PubMed: 33260287
DOI: 10.4132/jptm.2020.10.08 -
The Annals of Otology, Rhinology, and... Jun 2022Phosphaturic mesenchymal tumor (PMT) is a rare, polymorphous neoplasm with a highly variable presentation and natural history and unpredictable clinical course. The...
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.
Topics: Adult; Female; Humans; Male; Mesenchymoma; Middle Aged; Neoplasm Recurrence, Local; Osteomalacia; Retrospective Studies; Skull Base; Soft Tissue Neoplasms
PubMed: 34369202
DOI: 10.1177/00034894211037416 -
Pathologie (Heidelberg, Germany) Jul 2022The recent WHO classification of Bone Tumours (2020) has introduced several changes. Conceptionally, small round cell sarcomas are now summarized in a distinct chapter,...
The recent WHO classification of Bone Tumours (2020) has introduced several changes. Conceptionally, small round cell sarcomas are now summarized in a distinct chapter, acknowledging their occurrence in both, bone and soft tissue. In the light of new molecular findings some diagnostic categories, such as fibrohistiocytic tumors, have been abandoned, and a few new entities have been added to the classification. Finally, systematic changes were made with regard to the terminology employed in the classification of chondrogenic tumours, and modifications have been made with respect to the biological potential of some lesions. This article summarizes the major changes made, underscoring the elementary role of an interdisciplinary approach in the diagnosis and management of bone lesions.
Topics: Bone Neoplasms; Humans; Sarcoma, Small Cell; World Health Organization
PubMed: 35925224
DOI: 10.1007/s00292-022-01079-z -
BMC Musculoskeletal Disorders Aug 2021A phosphaturic mesenchymal tumor (PMT) is classified into four histological subtypes: mixed connective tissue, osteoblast-like, non-ossifying fibroma-like, and ossifying... (Review)
Review
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.
Topics: Female; Fibroma; Fibroma, Ossifying; Humans; Mesenchymoma; Middle Aged; Neoplasm Recurrence, Local; Tomography, X-Ray Computed
PubMed: 34376178
DOI: 10.1186/s12891-021-04558-1 -
Advances in Anatomic Pathology Sep 2019Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that ectopically secretes fibroblast growth factor 23, a bone cell-derived protein that regulates phosphate... (Review)
Review
Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that ectopically secretes fibroblast growth factor 23, a bone cell-derived protein that regulates phosphate homeostasis. The overproduction of fibroblast growth factor 23 causes a paraneoplastic syndrome characterized by hyperphosphaturia, hypophosphatemia, hypovitaminosis D, and vitamin D refractory rickets/osteomalacia, effects that disappear with tumor removal. The PMT may occur in several anatomic regions, mainly in the limbs, usually involving both soft tissue and bone. Acral locations occur in 10% to 15% of the cases, mostly in the feet, with 95 cases reported in this anatomic region to date. We report a case of a PMT in a young adult male who presented in 2007 with the classic constellation of signs and symptoms. A small soft-tissue tumor was detected in his right heel, 3 years after exhaustively seeking for it by various imaging techniques performed at different institutions. Before the tumor was detected, attempts to manage this patient's osteomalacia with phosphate and vitamin D (both calcitriol and ergocalciferol) supplementation were unsuccessful. Following surgical resection, the patient experienced prompt correction of the phosphaturia and gradual reconstitution of his bone mineralization. The pathologic diagnosis was (benign) PMT, mixed connective tissue type. In 2019, 12 years after resection, the patient is asymptomatic, and his bone mineral homeostasis has been restored.
Topics: Adult; Bone and Bones; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Humans; Male; Mesenchymoma; Osteomalacia; Phosphates; Soft Tissue Neoplasms
PubMed: 31261249
DOI: 10.1097/PAP.0000000000000240 -
Head and Neck Pathology Sep 2022Phosphaturic 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)...
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.
Topics: Fibroblast Growth Factors; Humans; Mesenchymoma; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes; Soft Tissue Neoplasms
PubMed: 35119617
DOI: 10.1007/s12105-022-01419-8