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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 -
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 -
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 -
Annals of Diagnostic Pathology Oct 2021Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is a rare tumor characterized clinically by presence of tumor-induced osteomalacia (TIO), subsequent to...
BACKGROUND
Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is a rare tumor characterized clinically by presence of tumor-induced osteomalacia (TIO), subsequent to elevated fibroblastic growth factor 23 (FGF23) levels. This study aims to analyse the morphological spectrum of PMT along with clinico-pathological correlation and immunophenotype profile of this rare tumor.
MATERIALS AND METHODS
Detailed histological analysis of all tumors presenting with TIO over past 7 years was done retrospectively. Immunohistochemistry was performed in all cases for SATB2, STAT6, CD34, FGF23, ERG, S100 and smooth muscle actin (SMA).
RESULTS
A total of 13 cases were analysed (8 female and 5 male) with mean age of 39.8 years. Five cases were arising from bone while 4 each from soft tissue and nasal cavity/paranasal sinus. All presented with hypophosphatemia, hyperphosphaturia, elevated serum FGF23 and features suggestive of osteomalacia. Histological examination revealed basophilic 'grungy' calcification seen in 7 (53.8%), osteoid formation in 8 (61.5%), chondroid matrix in 4 (30.8%), adipose tissue in 6 (46.2%), osteoclast-like giant cells in 9 (69.2%) and hemangiopericytomatous (HPC like) blood vessels in 7 cases (53.8%). HPC like vessels and adipose tissue were more common in nasal tumors while calcification was more common in tumors arising from bone. All cases showed immunoreactivity for SATB2 and clinical improvement following resection except one case with residual tumor.
CONCLUSION
PMT shows varied histological pattern with various matrix components depending on the site of the tumor. Serum FGF-23 is a useful adjunctive marker for diagnosis.
Topics: Adult; Biomarkers, Tumor; Female; Humans; Hypophosphatemia; Immunohistochemistry; Immunophenotyping; Male; Mesenchymoma; Middle Aged; Osteomalacia; Paraneoplastic Syndromes; Retrospective Studies; Soft Tissue Neoplasms
PubMed: 34329884
DOI: 10.1016/j.anndiagpath.2021.151783 -
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke... Apr 2021To investigate the diagnosis and surgical treatment of sinonasal phosphaturic mesenchymal tumor (PMT). The medical records of nine patients who had been diagnosed as...
To investigate the diagnosis and surgical treatment of sinonasal phosphaturic mesenchymal tumor (PMT). The medical records of nine patients who had been diagnosed as sinonasal PMT in Department of Otorhinolaryngology Head and Neck Surgery, Shanghai JiaoTong University Affiliated Sixth People's Hospital between January 2015 and May 2020 were collected, including 4 males and 5 females, ranging from 36 to 59 years. The patient's previous history, clinical manifestations, imaging findings, laboratory results, surgical procedure, pathological results and postoperative follow-up data were analyzed by descriptive statistical analysis. All patients presented hypophosphatemia and tumor-induced osteomalacia (TIO) with a disease course of 1 to 19 years. The imaging examination and intraoperative findings identified two cases with peripheral tissue infiltration, two cases with contralateral nasal cavity invasion, and one case with intracranial invasion. Five patients underwent unilateral endoscopic resection while two patients underwent bilateral endoscopic resection, and the remaining two patients underwent unilateral transorbital ethmoid artery ligation plus endoscopic tumor resection and endoscopic combined with transfrontal tumor resection (=1 each). Expect for one case developed recurrence and intracranial involvement, the other patients achieved clinical remission and no recurrence was observed during the six-month follow-up. The diagnosis of sinonasal PMT needs combination of clinical manifestation, imaging, and pathological findings. Complete surgical excision and long-term postoperative follow-up are imperative.
Topics: China; Female; Humans; Hypophosphatemia; Male; Mesenchymoma; Neoplasm Recurrence, Local; Neoplasms, Connective Tissue; Retrospective Studies
PubMed: 33832193
DOI: 10.3760/cma.j.cn115330-20200605-00477 -
The Canadian Journal of Neurological... Jan 2022
Topics: Humans; Mesenchymoma; Osteomalacia; Soft Tissue Neoplasms; Spine
PubMed: 33750487
DOI: 10.1017/cjn.2021.44 -
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 -
Gan To Kagaku Ryoho. Cancer &... Dec 2020Here we report a case of a 41-year-old male patient who underwent resection of a desmoid tumor originating from the greater omentum with no history of open surgery. An...
Here we report a case of a 41-year-old male patient who underwent resection of a desmoid tumor originating from the greater omentum with no history of open surgery. An elastic hard mass was palpated in the left upper abdomen, but there were no abnormalities on serum chemical tests, including tumor markers. Computed tomography showed a parenchymal tumor located near the descending colon. Integrated positron-emission tomography and computed tomography revealed moderate accumulation of tracer in the tumor. An intra-abdominal malignant mesenchymoma was suspected and surgery was performed. The tumor was located in the anterior portion of the greater omentum. It partially invaded the diaphragm, and the affected regions were concurrently resected. The resected specimen measured 80 mm at longest diameter. The cut surface was grayish white and parenchymal. The histopathological findings showed the atypical spindle shaped tumor cells grown with collagen fiber progression. Immunohistochemical staining for β-catenin showed strong staining in the nuclei and cytoplasm of tumor cells. The patient was diagnosed with desmoid tumor originating from the greater omentum. The desmoid tumor with no history of open surgery was rare. We report this rare case, along with a discussion of the literature.
Topics: Adult; Biomarkers, Tumor; Fibromatosis, Aggressive; Humans; Male; Mesentery; Omentum; Tomography, X-Ray Computed
PubMed: 33468889
DOI: No ID Found -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jan 2021
Topics: Bone Neoplasms; Humans; Mesenchymoma
PubMed: 33396990
DOI: 10.3760/cma.j.cn112151-20200522-00403 -
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