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Biomolecules Oct 2020Synovial sarcoma (SS) is a malignant mesenchymal soft tissue neoplasm. Despite its name, the cells of origin are not synovial cells, but rather neural, myogenic, or...
Synovial sarcoma (SS) is a malignant mesenchymal soft tissue neoplasm. Despite its name, the cells of origin are not synovial cells, but rather neural, myogenic, or multipotent mesenchymal stem cells have been proposed as possible cells originators. Unlike other sarcomas, an unusual presentation of long-term pain at the tumor site has been documented, but the exact mechanisms have not been fully clarified yet. The transient receptor potential ankyrin 1 (TRPA1) is a nonselective cation channel mainly expressed in primary sensory neurons, where it functions as a pain sensor. TRPA1 have also been described in multiple non-excitable cells, including those derived from neural crest stem cells such as glial cells and, in particular, Schwann cell oligodendrocytes and astrocytes. We evaluated TRPA1 expression in SS. We selected a cohort of 41 SSs, and by immunohistochemistry, we studied TRPA1 expression TRPA1 was found in 92.6% of cases. Triple TRPA1/pS100/SOX10 and TRPA1/SLUG/SNAIL staining strongly supports a neural origin of SS. TRPA1 positivity was also observed in a subset of cases negative with pS100, SOX10 and/or SLUG/SNAIL, and these divergent phenotypes may reflect a process of tumor plasticity and dedifferentiation of neural-derived SSs. Given the functional diversity of TRPA1 and its expression in neuronal and non-neuronal multipotent neural crest stem cells, it remains to be determined whether TRPA1 expression in SSs neoplastic cells plays a role in the molecular mechanism associated with premonitory pain symptoms and tumor progression.
Topics: Adolescent; Adult; Aged; Biomarkers, Tumor; Female; Gene Expression Regulation, Neoplastic; Humans; Male; Mesenchymoma; Middle Aged; Neural Stem Cells; Sarcoma, Synovial; Soft Tissue Neoplasms; TRPA1 Cation Channel; Young Adult
PubMed: 33076385
DOI: 10.3390/biom10101446 -
International Journal of Oral Science Feb 2018Prompted by a unique case of an ectomesenchymal chondromyxoid tumor (ECT) of the palate in a 54-year-old female, we reviewed the English and German literature on this... (Review)
Review
Prompted by a unique case of an ectomesenchymal chondromyxoid tumor (ECT) of the palate in a 54-year-old female, we reviewed the English and German literature on this entity until the end of 2016 using PubMed. The search produced 74 lingual cases with a nearly equal sex distribution and a mean age of 39.3 years, and two extra-lingual cases sharing histological and immunohistological features including nodular growth, round, fusiform or spindle-shaped cellular architecture, and chondromyxoid stroma. Immunophenotyping showed the majority of cases to be positive for glial fibrillary acidic protein (GFAP), S-100 protein, glycoprotein CD57, pancytokeratin (AE1/AE3), and smooth muscle actin (SMA); in isolated cases there was molecular-genetic rearrangement or gain of Ewing sarcoma breakpoint region 1 (EWSR1) but no rearrangement of pleomorphic adenoma gene 1 (PLAG1). At present, ectomesenchymal cells that migrate from the neural crest are considered to play a pivotal role in tumor origin. All cases had a benign course, although there were three recurrences. Because of the rarity of this tumor and the need for differential diagnostic differentiation from myoepithelioma and pleomorphic adenoma, both oral surgeons and pathologists should be aware of this entity.
Topics: Biomarkers, Tumor; Chondroma; Diagnosis, Differential; Female; Humans; Immunophenotyping; Mesenchymoma; Middle Aged; Myoepithelioma; Palatal Neoplasms
PubMed: 29491357
DOI: 10.1038/s41368-017-0003-9 -
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: Humans; Male; Adult; Female; Retrospective Studies; Middle Aged; Mesenchymoma; Fibroblast Growth Factor-23; Young Adult; Hypophosphatemia; Fibroblast Growth Factors; Phosphorus; Treatment Outcome
PubMed: 38394416
DOI: 10.4103/ijpm.ijpm_295_23 -
Head and Neck Pathology Jun 2016Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that secretes fibroblast growth factor-23 (FGF-23) and causes oncogenic osteomalacia. It occurs in adults with... (Review)
Review
Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that secretes fibroblast growth factor-23 (FGF-23) and causes oncogenic osteomalacia. It occurs in adults with equal gender distribution and the most common location is the lower extremities, followed by the head and neck. Besides osteomalacia, the clinical presentation includes bone pain and multiple bone fractures. Microscopic features consist of spindle cells, multinucleated giant cells, and calcifications embedded in a chondromyxoid matrix. Laboratory findings indicate normal calcium and parathyroid levels, hypophosphatemia, and increased levels of FGF-23 that usually revert to normal after surgical removal. Due to its rarity, the purpose of the study was to report 2 new oral cases of PMT and to review the literature in the head and neck. The first case occurred in the gingiva and had been present for 6 years. The second case was a recurrence of a previously diagnosed PMT in the right mandible that metastasized to the lung and soft tissue. The literature review included 53 cases in the head and neck. There was a predilection for extra-oral sites (76%) compared to intra-oral sites (24%) with paranasal sinuses considered the most common location (38%) followed by the mandible (15%). There were 9 recurrences that included 3 malignant cases indicating a potentially aggressive tumor. Due to the indeterminate biological behavior of PMT and its rarity, a comprehensive evaluation of medical, laboratory, radiographic, and histological findings are crucial for a definitive diagnosis and treatment.
Topics: Fibroblast Growth Factor-23; Gingival Neoplasms; Head and Neck Neoplasms; Humans; Male; Mandibular Neoplasms; Mesenchymoma; Middle Aged; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes
PubMed: 26577211
DOI: 10.1007/s12105-015-0668-3 -
Radiology. Imaging Cancer Mar 2023
Topics: Humans; Neoplasms, Connective Tissue; Mesenchymoma; Hypophosphatemia, Familial; Osteomalacia
PubMed: 36897211
DOI: 10.1148/rycan.220170 -
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 -
Archives of Pathology & Laboratory... Sep 2009The proper classification of spindle cell neoplasms of the gastrointestinal tract frequently requires the use of immunohistochemistry, as the histologic appearance of... (Review)
Review
CONTEXT
The proper classification of spindle cell neoplasms of the gastrointestinal tract frequently requires the use of immunohistochemistry, as the histologic appearance of these lesions often overlaps.
OBJECTIVE
To review the antibodies used in the diagnosis of spindle cell neoplasms of the gastrointestinal tract, and to outline an approach to the evaluation of these lesions by using immunohistochemistry.
DATA SOURCES
The authors' experience and a review of the English literature from 1976 to 2008.
CONCLUSIONS
The most common spindle cell neoplasm of the gastrointestinal tract is gastrointestinal stromal tumor; this lesion is readily diagnosed with c-kit immunohistochemistry in most cases. Other stains, such as smooth muscle actin, desmin, S100 protein, and beta-catenin, are also useful in the diagnosis of smooth muscle tumors, schwannomas, desmoid-type fibromatoses, and metastatic melanoma.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Fibromatosis, Aggressive; Gastrointestinal Stromal Tumors; Guidelines as Topic; Humans; Immunohistochemistry; Leiomyosarcoma; Melanoma; Mesenchymoma; Neurilemmoma; Proto-Oncogene Proteins c-kit; Solitary Fibrous Tumors; Stromal Cells
PubMed: 19722741
DOI: 10.5858/133.9.1370 -
Mesenchymoma of the lung (so called hamartoma): a review of 154 parenchymal and endobronchial cases.Thorax Oct 1987In a series of 154 patients (116 male and 38 female) with so called pulmonary hamartoma the peak incidence was in the sixth decade, with only three patients less than 20... (Review)
Review
In a series of 154 patients (116 male and 38 female) with so called pulmonary hamartoma the peak incidence was in the sixth decade, with only three patients less than 20 years of age. Sequential radiographs showed that in 55 patients the tumour first appeared in adult life and that in 53 it progressively increased in size. The age incidence and progressive growth leads to the conclusion that the tumour is a benign neoplasm rather than a hamartoma, consisting of various connective tissues intersected by clefts lined by respiratory epithelium. The epithelial elements are regarded as entrapped non-neoplastic inclusions and the tumour as a purely mesenchymal neoplasm: the name mesenchymoma therefore seems the most appropriate. There were two recurrences after simple enucleation, 10 and 12 years later. A total of 142 tumours were parenchymal, and only 12 were endobronchial. All lobes were affected but there was a slight preponderance in the left upper lobe. Four patients had two (synchronous) mesenchymomas. There was an associated bronchial carcinoma in 11 patients, synchronous in six and metachronous in five.
Topics: Adolescent; Aged; Female; Hamartoma; Humans; Lung Neoplasms; Male; Mesenchymoma; Middle Aged
PubMed: 3321538
DOI: 10.1136/thx.42.10.790 -
European Annals of Otorhinolaryngology,... Oct 2018Oncogenic osteomalacia is a very rare disease usually caused by a phosphaturic mesenchymal tumor, particularly the "mixed connective tissue type", secreting FGF-23... (Review)
Review
INTRODUCTION
Oncogenic osteomalacia is a very rare disease usually caused by a phosphaturic mesenchymal tumor, particularly the "mixed connective tissue type", secreting FGF-23 hormone.
OBJECTIVE
The authors report a case of ethmoid tumor associated with oncogenic osteomalacia and discuss management based on a review of the literature.
CASE SUMMARY
A 41-year-old woman with multiple fractures causing major disability was diagnosed with early-onset osteoporosis. CT scan followed by MRI, performed due to the concomitant presence of nasal obstruction, showed a right ethmoid tumor in contact with the dura mater and periorbital tissues, but with no signs of invasion. Endoscopic resection was performed with reconstruction of the defect of the cribriform plate by a nasoseptal flap. Nasal and bone symptoms subsequently resolved. Histological examination revealed a phosphaturic mesenchymal tumor.
DISCUSSION
Twelve cases of mesenchymal tumor of the ethmoid sinus associated with oncogenic osteomalacia have been reported to date. FGF-23 assay and whole-body MRI with STIR sequence are useful for the diagnosis. A very favorable outcome is observed after surgical treatment in the majority of cases.
Topics: Adult; Ethmoid Sinus; Female; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Humans; Mesenchymoma; Osteomalacia; Paranasal Sinus Neoplasms
PubMed: 30026073
DOI: 10.1016/j.anorl.2018.07.001 -
Molecular Pathology : MP Aug 2001Gynaecological tumours exemplify many of the molecular paradigms of carcinogenesis. The clinical value of many of the molecular abnormalities present is now being tested... (Review)
Review
Gynaecological tumours exemplify many of the molecular paradigms of carcinogenesis. The clinical value of many of the molecular abnormalities present is now being tested and it is likely that the identification of at least some of these will become routine in the near future. This may help to refine diagnosis and guide treatment-for example, therapeutic vaccination for human papillomavirus related disease.
Topics: Adult; DNA, Viral; Endometrial Hyperplasia; Endometrial Neoplasms; Female; Genes, p53; Genetic Markers; Genital Neoplasms, Female; Humans; Mesenchymoma; Ovarian Neoplasms; Papillomaviridae; Predictive Value of Tests; Prognosis; Sarcoma; Uterine Cervical Neoplasms; Uterine Neoplasms
PubMed: 11477134
DOI: 10.1136/mp.54.4.222