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AJNR. American Journal of Neuroradiology Jun 2022Phosphaturic mesenchymal tumors (PMTs) are neoplasms associated with tumor-induced osteomalacia. Patients typically present with pathologic fractures in the setting of...
Phosphaturic mesenchymal tumors (PMTs) are neoplasms associated with tumor-induced osteomalacia. Patients typically present with pathologic fractures in the setting of chronic hypophosphatemic hyperphosphaturic osteomalacia, as well as gradual muscle weakness, bone pain, and difficulty walking. Because of their rarity and nonspecific symptomatology, phosphaturic mesenchymal tumors often go undiagnosed for years. Even when discovered on imaging, the tumors can be diagnostically challenging for radiologists. Phosphaturic mesenchymal tumors often tend to be small and can be located nearly anywhere in the body, and, therefore, can mimic many other tumors. This case highlights the imaging and pathologic markers of a phosphaturic mesenchymal tumor, often found in a patient with tumor-induced osteomalacia.
Topics: Humans; Mesenchymoma; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes
PubMed: 35589138
DOI: 10.3174/ajnr.A7513 -
Head and Neck Pathology Mar 2016Several benign and malignant mesenchymal and meningothelial lesions may preferentially affect or extend into the sinonasal tract. Glomangiopericytoma (GPC, formerly... (Review)
Review
Several benign and malignant mesenchymal and meningothelial lesions may preferentially affect or extend into the sinonasal tract. Glomangiopericytoma (GPC, formerly sinonasal-type hemangiopericytoma) is a specific tumor with a predilection to the sinonasal tract. Sinonasal tract polyps with stromal atypia (antrochoanal polyp) demonstrate unique histologic findings in the sinonasal tract. Juvenile nasopharyngeal angiofibroma (JNA) arises from specialized tissue in this location. Meningioma may develop as direct extension from its intracranial counterpart or as an ectopic tumor. Selected benign mesenchymal tumors may arise in the sinonasal tract and pose a unique differential diagnostic consideration, such as solitary fibrous tumor and GPC or lobular capillary hemangioma and JNA. Although benign and malignant vascular, fibrous, fatty, skeletal muscle, and nerve sheath tumors may occur in this location, this paper focuses on a highly select group of rare benign sinonasal tract tumors with their clinicopathological and molecular findings, and differential diagnosis.
Topics: Brain Neoplasms; Humans; Meningioma; Mesenchymoma; Paranasal Sinus Neoplasms
PubMed: 26830398
DOI: 10.1007/s12105-016-0697-6 -
Genes, Chromosomes & Cancer Feb 2019Pediatric soft tissue tumors are relatively rare and show significant overlap in morphology and immunoprofile, often posing diagnostic and management challenges. Thus,... (Review)
Review
Pediatric soft tissue tumors are relatively rare and show significant overlap in morphology and immunoprofile, often posing diagnostic and management challenges. Thus, their classification remains often subjective or lumped under "unclassified categories," as a number of lesions lack objective and reproducible criteria in diagnosis. Although in a subset of cases immunohistochemistry has been proved useful to identify a specific line of differentiation, most tumors lack a readily defined histogenesis, being characterized by a rather non-specific immunoprofile. Furthermore, tumors with an ambiguous diagnosis are difficult to grade and their risk of malignancy or clinical management remains uncertain. Advances in molecular genetics, including the more wide application of next generation sequencing in routine clinical practice, have improved diagnosis and refined classification based on objective molecular markers. Importantly, some soft tissue tumors in children are characterized by recurrent gene fusions involving either growth factors (eg, PDGFB) or protein kinases (eg, ALK, ROS, NTRK, BRAF), which have paved the way for new targeted treatments that block the respective upregulated downstream pathways. However, the majority of gene fusions or mutations detected in soft tissue tumors result in an abnormal function of transcription factors or chromatin remodeling. The present review focuses on the latest genetic discoveries in the spectrum of both benign and malignant pediatric soft tissue neoplasia. These genetic abnormalities promise to provide relevant insight for their proper classification, prognosis, and treatment. The entities discussed herein are grouped either based on their shared genetic mechanism or based on their presumed line of differentiation.
Topics: Biomarkers, Tumor; Child; Humans; Mesenchymoma; Oncogene Proteins, Fusion; Soft Tissue Neoplasms
PubMed: 30187985
DOI: 10.1002/gcc.22681 -
Medicine Oct 2018Phosphaturic mesenchymal tumor mixed connective tissue type (PMT/MCT) is the most common type (up to 90%) of phosphaturic mesenchymal tumor (PMT), a rare... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Phosphaturic mesenchymal tumor mixed connective tissue type (PMT/MCT) is the most common type (up to 90%) of phosphaturic mesenchymal tumor (PMT), a rare clinicopathologic entity. Besides overproduction of fibroblast growth factor 23 (FGF23), there is a big variation of immunohistochemical characteristic across types of PMT, which makes it difficult to obtain an early diagnosis of PMT/MCT. As a benign tumor, PMT/MCT usually happens in subcutaneous tissues and leads to nonhealing of wound. A complete excision of PMT/MCT facilitates wound healing.
CONCLUSIONS
Review of the existing evidence indicates that early diagnosis of PMT/MCT is critically important when treating PMT/MCT wound. Hence standardization of early diagnosis for PMT/MCT is mandated.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Early Detection of Cancer; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Humans; Hypophosphatemia, Familial; Mesenchymoma; Mixed Connective Tissue Disease; Soft Tissue Neoplasms; Wounds and Injuries
PubMed: 30290606
DOI: 10.1097/MD.0000000000012507 -
Magyar Onkologia Mar 2020Based on our current knowledge, 5-10% of all malignancies are part of hereditary cancer syndromes. Although the increasing diagnostic role of molecular genetic testing... (Review)
Review
Based on our current knowledge, 5-10% of all malignancies are part of hereditary cancer syndromes. Although the increasing diagnostic role of molecular genetic testing makes us able to recognize more hereditary cancer patients, the careful exploration of family and clinical history by physicians is still the most important step for the diagnosis. In our review we deal with mesenchymal tumours associated with hereditary syndromes. Sarcomas comprise only 1% of all malignancies, but they often associate with familiar diseases so they can serve as an indicator of these syndromes. The diagnosis of hereditary cancer predisposition syndromes is essential to ensure appropriate therapy and follow-up for our patients.
Topics: Genetic Predisposition to Disease; Genetic Testing; Humans; Mesenchymoma; Neoplastic Syndromes, Hereditary; Sarcoma
PubMed: 32181763
DOI: No ID Found -
Eplasty 2017Lipomas are very common benign tumors located in any part of the body in which fat is normally present, but lipomas containing both osseous and cartilaginous elements...
Lipomas are very common benign tumors located in any part of the body in which fat is normally present, but lipomas containing both osseous and cartilaginous elements are rare. A case of osteochondrolipoma in a 72-year-old man is reported. The tumor in the mental region was 2×1.5×1.5 cm. After resection of the tumor, there has been no recurrence during the 6-month postoperative follow-up. Histological examination confirmed the definitive diagnosis. Osteochondrolipoma is an extremely unusual lesion that should be kept in mind in the differential diagnosis of soft-tissue tumors.
PubMed: 29238440
DOI: No ID Found -
La Radiologia Medica Dec 2021Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal neoplasms of soft tissue or bone origin that can give rise to a challenge in diagnostic imaging. These tumors... (Review)
Review
Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal neoplasms of soft tissue or bone origin that can give rise to a challenge in diagnostic imaging. These tumors are frequently associated with tumor-induced osteomalacia, also called oncogenic osteomalacia, which is a rare paraneoplastic syndrome characterized by ectopic secretion of fibroblast growth factor 23, a hormone that regulates serum phosphate level. PMTs show polymorphic features on both radiological findings and histological examination, causing problems in diagnosis owing to their similarity with other mesenchymal tumors. Thus, this paper aims to describe radiological aspects of PMTs and suggest an imaging pathway for accurate diagnosis throughout the evidence from the literature review.
Topics: Diagnostic Imaging; Humans; Mesenchymoma; Osteomalacia; Paraneoplastic Syndromes
PubMed: 34453276
DOI: 10.1007/s11547-021-01412-1 -
Modern Pathology : An Official Journal... Feb 2019Information on the heterogeneity of phosphaturic mesenchymal tumor, a rare entity associated with tumor-induced osteomalacia, is limited. In this retrospective analysis... (Review)
Review
Phosphaturic mesenchymal tumor with an admixture of epithelial and mesenchymal elements in the jaws: clinicopathological and immunohistochemical analysis of 22 cases with literature review.
Information on the heterogeneity of phosphaturic mesenchymal tumor, a rare entity associated with tumor-induced osteomalacia, is limited. In this retrospective analysis of 222 phosphaturic mesenchymal tumors, 22 cases exhibited mixed mesenchymal and epithelial elements, which we propose to term "phosphaturic mesenchymal tumor, mixed epithelial, and connective tissue type." Phosphaturic mesenchymal tumor of the mixed epithelial and connective tissue type showed a distinctive and significant male predominance (male:female = 2.67:1), with most patients diagnosed at <40 years old. Moreover, all tumors were mainly located in the alveolar bone with focal invasion into surrounding soft tissue and oral mucosa, which could be detected preoperatively by oral examination. The mesenchymal component, composed of spindled cells resembling fibroblasts or myofibroblasts arranged in a storiform or fascicular pattern, exhibited a less prominent vasculature and lower cellularity than the typical phosphaturic mesenchymal tumor (mixed connective tissue type). The epithelial component was typically haphazardly and diffusely distributed throughout the tumor, forming small, irregular nests resembling odontogenic epithelial nests. All cases were immunoreactive for fibroblast growth factor-23, somatostatin receptor 2A, and NSE in both components. Mostly also demonstrated positive staining for CD99 (21/22, 96%), CD56 (16/22, 73%), Bcl-2 (21/22, 96%), and D2-40 (19/22, 86%) in one or both components. S100 was positive in both components in one of seven cases. Interestingly, immunoreactivity was typically stronger and more diffuse in the epithelial than in the paired mesenchymal components. The mesenchymal component was also diffusely positive for CD68 (17/17, 100%) and showed variable focal staining for SMA (15/22, 68%) and CD34 (9/19, 47 %). These results indicate that phosphaturic mesenchymal tumor of the mixed epithelial and connective tissue type has distinctive clinicopathological characteristics and a polyimmunophenotypic profile.
Topics: Adolescent; Adult; Aged; Female; Humans; Immunohistochemistry; Jaw Neoplasms; Male; Mesenchymoma; Middle Aged; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes; Retrospective Studies
PubMed: 30206408
DOI: 10.1038/s41379-018-0100-0 -
BMC Surgery Aug 2023To summarize and discuss the guiding role of endoscopic ultrasound (EUS) in selecting endoscopic treatments for submucosal tumors (SMTs) in the upper gastrointestinal...
OBJECTIVE
To summarize and discuss the guiding role of endoscopic ultrasound (EUS) in selecting endoscopic treatments for submucosal tumors (SMTs) in the upper gastrointestinal tract.
METHODS
A retrospective investigation was conducted on 156 SMT patients who received endoscopic resection guided by EUS in the endoscopy center of the Second Affiliated Hospital of Guangzhou University of Chinese Medicine from May 2019 to September 2021. Next, the size, pathological type, and distribution of lesions were analyzed; the correlation of the tumor origin with distribution of lesions and selection of treatments was explored; and the consistency of preoperative EUS diagnosis and postoperative pathological diagnosis was summarized and analyzed.
RESULTS
The tumor diameters of the included SMT patients ranged from 0.3 to 4 cm, with a mean diameter of 0.95 cm; the lesions were mostly located in the esophagus, gastric fundus or fundic cardia and gastric body. As for the pathological types, liomyoma was the most common tumor in the esophagus, liomyoma and mesenchymoma were mainly located in the fundic cardia and gastric body, and heterotopic pancreas was mostly discovered in the gastric sinus. Among 38 esophageal SMT patients, some with lesions originating from muscularis mucosa and submucosa under EUS mainly underwent endoscopic submucosal dissection (ESD) and endoscope band ligation (EBL); while others with lesions originated from muscularis propria mainly received submucosal tunneling endoscopic resection (STER). Of 115 gastric SMT patients under EUS, some with lesion origins from the muscularis mucosa and submucosa mainly underwent endoscopic submucosal excavation (ESE), while others from muscularis propria mainly underwent ESE, ESD, and endoscopic full-thickness resection (EFTR). Besides, 3 duodenal SMT patients with lesion origins from submucosa and muscularis propria under EUS were given ESD and ESE, respectively. Additionally, 121 cases showed a consistency between the EUS diagnosis and the postoperative pathological nature, and the consistency rate was 84.6%.
CONCLUSION
Clarifying the origin layer, size, growth pattern, and pathological nature of the lesion through preoperative EUS can guide the precise selection of endoscopic treatments, thereby ensuring a safe, effective, and complete surgical outcomes and reducing complications.
Topics: Humans; Retrospective Studies; Upper Gastrointestinal Tract; Endosonography; Endoscopy; Neoplasms
PubMed: 37635257
DOI: 10.1186/s12893-023-02164-7 -
International Journal of Surgery Case... 2018Benign Osseous metaplasia of the breast is rare, with only a few cases reported in the literature. Here we present a case of benign osseous metaplasia of the breast...
INTRODUCTION
Benign Osseous metaplasia of the breast is rare, with only a few cases reported in the literature. Here we present a case of benign osseous metaplasia of the breast presenting as a breast lump.
CASE PRESENTATION
38-year-old previously well woman presented with a one-year history of bilateral breast pain and a left-sided breast lump. Ultrasound and mammography suggested calcified fibroadenoma. An ultrasound-guided true cut biopsy revealed fibrous tissue containing foci of adenosis in the presence of a myoepithelial cell layer. Excision biopsy was performed, and histopathological examination showed bone matrix deposition occupying most of the nodule with peripheral hyalinized tissue but no evidence of malignancy. A diagnosis of benign osseous metaplasia of the breast was made, and the patient recovered well without recurrence after lump excision.
DISCUSSION
Only a few cases of osseous metaplasia are reported in the literature. Most reported cases are malignant, such as in fibrosarcoma, malignant mesenchymoma, osteoid sarcoma, osteogenic sarcoma, and osteochondrosarcoma.Very few cases of osseous sarcoma are reported in benign lesions such as fibroadenoma, pleomorphic adenoma, benign mesenchymoma, phyllodes tumor, and amyloid tumor of the breast. Joshi et al. first reported a case of benign osseous metaplasia of the breast presenting as breast lump in an HIV-positive patient [18]. We, therefore, consider this case to be the second case report of benign osseous metaplasia of the breast presenting as a breast lump, but the patient had no chronic illness.
CONCLUSION
A breast lump can be the first presentation of benign osseous metaplasia.
PubMed: 29482081
DOI: 10.1016/j.ijscr.2018.02.025