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European Radiology Apr 2021Currently, the main challenge in tumour-induced osteomalacia (TIO) is the difficulty in locating culprit tumours for definitive diagnosis and surgical therapy. Herein,...
OBJECTIVES
Currently, the main challenge in tumour-induced osteomalacia (TIO) is the difficulty in locating culprit tumours for definitive diagnosis and surgical therapy. Herein, we retrospectively evaluate the efficiency of Ga-DOTANOC PET/CT in the localisation and diagnosis of TIO, and compared with F-FDG.
METHODS
Twenty-four consecutive patients with hypophosphataemic osteomalacia (HO) and suspicion of TIO who were referred to our centre for Ga-DOTANOC PET/CT scanning were retrospectively reviewed. The images were evaluated qualitatively as well as semi-quantitatively, and imaging results were compared with the final diagnoses.
RESULTS
Among the total of 21 patients who were included in the final analyses, 17 were diagnosed with TIO, while four were proven to have other causes of HO. Ga-DOTANOC PET/CT produced positive results in 16 of the 17 patients with TIO, representing a sensitivity of 94.1%. Moreover, the Ga-DOTANOC PET/CT results were negative in 3 of the 4 patients without TIO, representing a specificity of 75.0%. The overall accuracy of Ga-DOTANOC PET/CT in locating the tumours responsible for TIO is 90.5%. In particular, Ga-DOTANOC PET/CT detected the culprit tumours in 4 out of 10 patients with negative results on previous F-FDG PET/CT and showed a significantly higher T/M ratio of tumours than F-FDG PET/CT in the same patients (n = 10; 4.76 ± 3.08 vs 1.95 ± 1.33, p < 0.05).
CONCLUSIONS
Ga-DOTANOC PET/CT is an accurate imaging modality in the localisation of tumours for TIO. It is superior to F-FDG PET/CT and may be useful in the differential diagnosis of HO.
KEY POINTS
• TIO should be considered a possible cause for patients diagnosed with HO, which usually needs to be differentiated from other aetiologies. • Ga-DOTANOC PET/CT is an accurate imaging modality in locating culprit tumours for TIO, superior to F-FDG PET/CT.
Topics: Gallium Radioisotopes; Humans; Multimodal Imaging; Organometallic Compounds; Osteomalacia; Paraneoplastic Syndromes; Positron Emission Tomography Computed Tomography; Positron-Emission Tomography; Retrospective Studies
PubMed: 33021702
DOI: 10.1007/s00330-020-07342-2 -
Journal of Comparative Pathology Oct 2019Feline injection site sarcoma (FISS) is a mesenchymal neoplasm with highly malignant characteristics. These tumours originate in anatomical sites where there has been...
Feline injection site sarcoma (FISS) is a mesenchymal neoplasm with highly malignant characteristics. These tumours originate in anatomical sites where there has been previous parenteral administration of medicinal substances or implantation of medical devices. The aim of this study was to investigate the epidemiological and pathological features associated with FISS in the southern region of Brazil. The database of the Department of Veterinary Pathology of the Federal University of Rio Grande do Sul was searched for excisional and incisional biopsy samples compatible with FISS submitted between 2007 and 2017. Biopsy reports were reviewed and epidemiological information, including breed, age and sex of affected cats, as well as gross findings including anatomical location and size of the tumour and the presence of tissue invasion, were extracted. Eighty-nine samples were selected based on the established criteria. Most animals were of undefined breed and were female cats with a median age of 10 years. Grossly, 84.8% of the tumours were >2 cm in diameter. Regarding anatomical location, 34.9% of the tumours were located in the subcutaneous tissue of the thoracic wall, 29.2% in the flank, 21.3% in the interscapular region and 14.6% in the limbs. Histologically, the tumours originated in the subcutaneous tissue and were diagnosed as malignant mesenchymal neoplasms. Most were compatible with fibrosarcomas, but variants with features of pleomorphic sarcoma or chondrosarcoma were recognized. All tumours exhibited areas of necrosis and peripheral inflammatory infiltrate, composed predominantly of lymphocytes, plasma cells and macrophages. The results of this study suggest the need for dissemination of information on FISS epidemiology and guidelines for management of this tumour to veterinarians in the region.
Topics: Animals; Brazil; Cat Diseases; Cats; Female; Fibrosarcoma; Injection Site Reaction; Mesenchymoma; Retrospective Studies; Soft Tissue Neoplasms; Vaccination
PubMed: 31690412
DOI: 10.1016/j.jcpa.2019.08.009 -
The International Journal of Lower... Dec 2023Phosphaturic mesenchymal tumor (PMT) is a rare paraneoplastic syndrome characterized by renal phosphate wasting, hypophosphatemia, and bone calcification disorders.... (Review)
Review
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.
Topics: Male; Humans; Adult; Neoplasms, Connective Tissue; Hallux; Endothelial Cells; Soft Tissue Neoplasms; Mesenchymoma
PubMed: 35043721
DOI: 10.1177/15347346221074163 -
Oman Medical Journal Nov 2020Malignant mesenchymoma is a rare tumor in which there are two or more distinct mesenchymal components. These are generally considered as high-grade neoplasms and are...
Malignant mesenchymoma is a rare tumor in which there are two or more distinct mesenchymal components. These are generally considered as high-grade neoplasms and are usually associated with a poor prognosis. Here, we report a case of malignant mesenchymoma containing undifferentiated spindle cell sarcoma, leiomyosarcoma, chondrosarcoma, osteosarcoma, and areas with rhabdoid differentiation in a 54-year-old male. The primary tumor measured 5.5 × 4 × 3 cm and weighed 135 g arising from the left submandibular salivary gland. Fine-needle aspiration cytology showed the presence of pleomorphic spindle cell clusters with atypia and myxoid stroma. An impression of malignant salivary gland neoplasm was given. Diagnosis of malignant mesenchymoma was made on histopathological examination supported by immunohistochemistry showing strong positivity with p53, Ki-67, and focal positivity for smooth muscle actin, S-100, desmin, and negativity for cytokeratins. The exact histogenesis of malignant mesenchymoma and the optimal management strategy to decide the prognosis remains uncertain as it is a rare tumor.
PubMed: 33335748
DOI: 10.5001/omj.2020.98 -
Pediatric Blood & Cancer Sep 2022Rhabdomyosarcoma of the perianal/perineal region (PRMS) is rare, with poor survival and limited understanding of the functional consequences of treatment.
BACKGROUND/OBJECTIVES
Rhabdomyosarcoma of the perianal/perineal region (PRMS) is rare, with poor survival and limited understanding of the functional consequences of treatment.
DESIGN/METHODS
International Society of Pediatric Oncology (SIOP) malignant mesenchymal tumor (MMT) 95, Italian RMS 96, and European paediatric Soft tissue sarcoma Study Group (EpSSG) RMS 2005 studies were interrogated to identify factors that impact survival; in RMS 2005, functional outcomes were analyzed.
RESULTS
Fifty patients (nonmetastatic) were identified, median age 6.4 years (range: 0.1-19.6): 29 male, 21 female. Tumors were >5 cm in 33 patients. Histopathological subtype was alveolar in 35. Lymph nodes were involved in 23 patients. In RMS 2005, 16/21 (76%) tested alveolar tumors had positive FOXO1 fusion status. Diagnostic biopsy was performed in 37. Primary resection (13) was complete (R0) in one. Delayed primary excision (16) was complete in three. Radiotherapy (RT) in 34/50 patients included external beam (28), brachytherapy (3), and both (3). Nodal RT was given in 16/23 N1 patients (70%). Median follow-up of alive patients (29) was 84.1 months (range: 3.6-221.1). Relapse or progression occurred in 24 patients (48%), 87% were fatal and most events (63%) were locoregional. Five-year event-free survival (EFS) was 47.8 (95% CI: 32.8-61.3), and 5-year overall survival (OS) was 52.6 (95% CI: 36.7-66.2), with age ≥10 years and tumor size >5 cm impacting 5-year EFS and OS (p < .05). Functional outcome data showed bowel, genito-urinary, and psychological issues; fecal incontinence in four of 21 survivors, and urinary symptoms in two of 21.
CONCLUSIONS
About 60% of patients with nonmetastatic PRMS survive; older patients and those with large tumors have the worst outcomes. Biopsy should be the initial procedure, and definitive local therapy individualized. Quality-of-life and functional studies are needed to better understand the consequences of treatment.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Young Adult; Mesenchymoma; Neoplasm Recurrence, Local; Rhabdomyosarcoma; Rhabdomyosarcoma, Embryonal
PubMed: 35460336
DOI: 10.1002/pbc.29739 -
Virchows Archiv : An International... Aug 2021Ectomesenchymoma is an exceedingly rare biphasic malignant tumor characterized by the presence of mesenchymal and neuroectodermal elements. The majority of patients are...
Ectomesenchymoma is an exceedingly rare biphasic malignant tumor characterized by the presence of mesenchymal and neuroectodermal elements. The majority of patients are infants or children. We describe the first case of this entity diagnosed as a primary uterine tumor. A 72-year-old female presented with post-menopausal bleeding. Dilatation and curettage showed irregular mesenchymal proliferation of uncertain nature. In the hysterectomy specimen, a myxoid spindle cell tumor with areas of skeletal muscle and neural differentiation was found in the uterus, with direct invasion of the small intestine, and biphasic differentiation into rhabdomyosarcoma and ganglioneuroblastoma was unequivocally seen in a lymph node metastasis. The morphological findings were validated by immunohistochemistry. Massive parallel sequencing identified TP53, PTEN, and DICER1 mutations in the tumor. This report describes the presence of ectomesenchymoma in an unusual primary organ and in an uncharacteristic age and presents novel data regarding the genetic characteristics of this tumor.
Topics: Aged; Biomarkers, Tumor; DEAD-box RNA Helicases; DNA Mutational Analysis; Female; Ganglioneuroblastoma; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing; Humans; Hysterectomy; Mesenchymoma; Mutation; PTEN Phosphohydrolase; Phenotype; Rhabdomyosarcoma; Ribonuclease III; Tumor Suppressor Protein p53; Uterine Neoplasms
PubMed: 33595736
DOI: 10.1007/s00428-021-03057-x -
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 -
BMJ Case Reports Nov 2022A man in his 40s was referred with persistent hypophosphataemia and bony pain. A serum fibroblast growth factor 23 level was markedly elevated and a diagnosis of...
A man in his 40s was referred with persistent hypophosphataemia and bony pain. A serum fibroblast growth factor 23 level was markedly elevated and a diagnosis of tumour-induced osteomalacia was considered. Whole body imaging revealed multiple insufficiency fractures but no osseus tumours. There was, however, a durally-based intracranial lesion whose imaging characteristics were consistent with a meningioma. The tumour was removed, leading to rapid normalisation of the patient's symptoms and serum markers. Histology confirmed a phosphaturic mesenchymal tumour. We review the literature regarding this rare clinical situation.
Topics: Male; Humans; Osteomalacia; Paraneoplastic Syndromes; Mesenchymoma; Soft Tissue Neoplasms; Meningeal Neoplasms
PubMed: 36319044
DOI: 10.1136/bcr-2022-252412 -
Neurology India 2019Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of certain mesenchymal tumors which secrete fibroblast growth factor-23 (FGF-23) responsible for... (Review)
Review
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of certain mesenchymal tumors which secrete fibroblast growth factor-23 (FGF-23) responsible for causing features of hypophosphatemia and osteomalacia in these patients. Most of them involve the appendicular skeleton and occasionally the craniofacial regions. Involvement of spine is exceedingly rare. Through this paper, the authors present a rare case of a 71-year-old male with TIO due to a lesion in the cervical spine (right C2 lamina) which was proven to be a phosphaturic mesenchymal tumor-mixed connective tissue type on histopathology. This is the fifth reported case of TIO localized to the cervical spine. The patient underwent a hemilaminectomy and gross total resection of the tumor following which he made a gradual but steady recovery and does not have any recurrence 24 months after surgery. The authors not only provide a comprehensive literature review of all 18 spinal cases reported till date but also discuss the management of these patients in light of the published literature.
Topics: Aged; Cervical Vertebrae; Fibroblast Growth Factor-23; Humans; Male; Mesenchymoma; Middle Aged; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes; Spinal Neoplasms
PubMed: 31744971
DOI: 10.4103/0028-3886.271274 -
Clinical Hemorheology and... 2021Tumor-induced osteomalacia (TIO) is a vanishingly rare paraneoplastic syndrome which is usually caused by phosphaturic mesenchymal tumors (PMTs). The conventional... (Review)
Review
Tumor-induced osteomalacia (TIO) is a vanishingly rare paraneoplastic syndrome which is usually caused by phosphaturic mesenchymal tumors (PMTs). The conventional treatment for PMTs is total resection, and ultrasound-guided radiofrequency ablation (RFA) can also be used for the treatment of PMTs patients, especially for patients in whom complete resection may lead to serious complications. We report two cases with PMT who presented syndrome with progressive musculoskeletal complaints and performed ultrasound-guided biopsy and RFA. Ultrasound-guided RFA, which is a safe and effective minimally invasive treatment option, appears to be a valuable alternative to surgery for patients presenting with PMT. We are the first reported case of RFA guided by ultrasonography in the treatment of PMT.
Topics: Adult; Catheter Ablation; Humans; Image-Guided Biopsy; Male; Mesenchymoma; Osteomalacia; Paraneoplastic Syndromes; Radiofrequency Ablation; Treatment Outcome; Ultrasonography; Ultrasonography, Interventional
PubMed: 32924995
DOI: 10.3233/CH-200921