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Case Reports in Orthopedics 2012The most common benign tumors of the mesenchyme are the lipomas. Benign fatty tumors can arise in any location in which fat is present. Fibrolipomas are characterised by...
The most common benign tumors of the mesenchyme are the lipomas. Benign fatty tumors can arise in any location in which fat is present. Fibrolipomas are characterised by fat modules. Most patients affected by such tumors are in the fifth or sixth decade of life. When very close to vital structures such as joints, they may cause functional limitations as well as pain. Osseous and chondroid metaplasia can infrequently manifest after chronic persistence. Given the rarity of this condition, a case of a big fibrolipoma of Hoffa's fat pad with osseous and cartilaginous metaplasia is reported. A 44-year-old woman presented with an enlarging soft mass on the right knee in the infrapatellar fat pad. After a thorough preoperative clinical and imaging examination, the mass was removed and sent to laboratory where the diagnosis was put. One year after surgery, both local and general condition of the patient were good and no signs of recurrence were found.
PubMed: 23259124
DOI: 10.1155/2012/547963 -
Frontiers in Oncology 2022Among those tumors with consistent USP6 rearrangement, some arise from soft tissue and show bone metaplasia, including myositis ossificans (MO), fibro-osseous...
INTRODUCTION
Among those tumors with consistent USP6 rearrangement, some arise from soft tissue and show bone metaplasia, including myositis ossificans (MO), fibro-osseous pseudotumor of digits (FOPD), soft tissue aneurysmal bone cyst (ST-ABC) and fasciitis ossificans (FO). These lesions are easily confused with malignancies because they show a rapid growth rate and brisk mitoses. Here, we aim to clarify the clinicopathologic and genetic characteristics of this entity and analyze the correlations among the different subtypes in one of the largest cohorts.
MATERIALS AND METHODS
The clinicopathologic features of 73 cases of MO, FOPD, ST-ABC and FO diagnosed at West China Hospital, Sichuan University from January 2010 to December 2021 were retrospectively analyzed. Forty-three undecalcified samples were analyzed by systematic genetic studies, including fluorescence in situ hybridization (FISH), reverse transcription polymerase chain reaction (RT-PCR), Sanger sequencing and next-generation-based sequencing were performed.
RESULTS
This series included 40 males and 33 females aged 2 to 80 years old (median: 31 years). FOPD occurred in extremal soft tissue, while lower extremities (38/58, 65.5%) were the most commonly involved lesions in the other three subgroups. Histologically, proliferative myofibroblasts/fibroblasts with varying degrees of osteoid tissue were present. Fluorescence in situ hybridization (FISH) results indicated that 22 cases (22/27, 81.5%) were positive for USP6 rearrangement, and 5 cases were negative. Among those cases with positive FISH results, 18 underwent reverse transcription-polymerase chain reaction (RT-PCR) detection that successfully detected common USP6 fusion types. Thirteen cases showed COL1A1::USP6 fusion, one showed MYH9::USP6 fusion, and 4 were negative for common fusion types. Next-generation-based sequencing technology was performed on two lesions with negative RT-PCR results and novel fusion partners SNHG3 and UBE2G1 were discovered.
CONCLUSIONS
Our findings revealed that COL1A1 is the most common fusion partner in this entity, unlike primary aneurysmal bone cysts and nodular fasciitis. Notably, we believed that FO may demonstrate more similar clinicopathologic and genetic manifestations with MO/FOPD and ST-ABC instead of nodular fasciitis for involving lower limbs most frequently and showing recurrent COL1A1::USP6 fusion. Additionally, this study also found two novel USP6 fusion partners, which further expanded our knowledge of this neoplastic spectrum.
PubMed: 36727055
DOI: 10.3389/fonc.2022.1065071 -
Journal of Comparative Pathology Nov 2009An adult swan goose (Anser cygnoides) kept in a zoological garden had gross hepatic enlargement with extensive ill-defined white foci. Microscopically, the hepatic...
An adult swan goose (Anser cygnoides) kept in a zoological garden had gross hepatic enlargement with extensive ill-defined white foci. Microscopically, the hepatic lesions were composed of a mixture of adipocytes and myeloid cells. The goose was also affected with systemic amyloidosis and there were areas of osseous metaplasia associated with deposition of amyloid within the liver.
Topics: Amyloidosis; Animals; Bird Diseases; Cell Proliferation; Female; Geese; Liver; Liver Diseases; Liver Neoplasms; Metaplasia; Myelolipoma
PubMed: 19592008
DOI: 10.1016/j.jcpa.2009.05.005 -
Experimental and Clinical... Aug 2014We report the sixth case of osseous metaplasia that has occurred in the last 5 years, after a deceased-donor renal transplant was performed on a young man. While its... (Review)
Review
We report the sixth case of osseous metaplasia that has occurred in the last 5 years, after a deceased-donor renal transplant was performed on a young man. While its clinical significance is unclear and probably irrelevant, osseous metaplasia is one of the most relevant principles of regenerative medicine, where every bodily district contains progenitor cells that can generate cells specific to the germ layer from which they come. After the Case Report, we review the literature and speculate on the underlying pathophysiology of osseous metaplasia. Available data seem to support the hypothesis that osteogenic precursor cells, inducing factors, and a suitable environment are key for osseous metaplasia.
Topics: Adolescent; Allografts; Biopsy; Female; Humans; Kidney; Kidney Failure, Chronic; Kidney Transplantation; Male; Metaplasia; Ossification, Heterotopic; Regeneration; Regenerative Medicine; Time Factors; Treatment Outcome; Young Adult
PubMed: 25095714
DOI: No ID Found -
Journal of Cellular Physiology Nov 2018Epidermal growth factor-like domain-containing protein 7 (EGFL7), a member of the epidermal growth factor (EGF)-like protein family, is a potent angiogenic factor... (Review)
Review
Epidermal growth factor-like domain-containing protein 7 (EGFL7), a member of the epidermal growth factor (EGF)-like protein family, is a potent angiogenic factor expressed in many different cell types. EGFL7 plays a vital role in controlling vascular angiogenesis during embryogenesis, organogenesis, and maintaining skeletal homeostasis. It regulates cellular functions by mediating the main signaling pathways (Notch, integrin) and EGF receptor cascades. Accumulating evidence suggests that Egfl7 plays a crucial role in cancer biology by modulating tumor angiogenesis, metastasis, and invasion. Dysregulation of Egfl7 has been frequently found in several types of cancers, such as malignant glioma, colorectal carcinoma, oral and oesophageal cancers, gastric cancer, hepatocellular carcinoma, pancreatic cancer, breast cancer, lung cancer, osteosarcoma, and acute myeloid leukemia. In addition, altered expression of miR-126, a microRNA associated with Egfl7, was found to play an important role in oncogenesis. More recently, our study has shown that EGFL7 is expressed in both the osteoclast and osteoblast lineages and promotes endothelial cell activities via extracellular signal-regulated kinase (ERK), signal transducer and activator of transcription 3 (STAT3), and integrin signaling cascades, indicative of its angiogenic regulation in the bone microenvironment. Thus, understanding the role of EGFL7 may provide novel insights into the development of improved diagnostics and therapeutic treatment for cancers and skeletal pathological disorders, such as ischemic osteonecrosis and bone fracture healing.
Topics: Bone and Bones; Calcium-Binding Proteins; Cell Lineage; Cell Movement; EGF Family of Proteins; Endothelial Growth Factors; Fractures, Bone; Gene Expression Regulation, Neoplastic; Humans; MicroRNAs; Neoplasms; Neovascularization, Pathologic; Osteonecrosis; Signal Transduction
PubMed: 29923200
DOI: 10.1002/jcp.26792 -
Journal of Medical Case Reports Dec 2023Gastrointestinal stromal tumor is considered the most common mesenchymal neoplasm of the gastrointestinal tract. The majority of gastrointestinal stromal tumor cases are...
BACKGROUND
Gastrointestinal stromal tumor is considered the most common mesenchymal neoplasm of the gastrointestinal tract. The majority of gastrointestinal stromal tumor cases are located in the stomach and usually affects older adults. Most of gastrointestinal stromal tumor cases are sporadic; however, few have a syndromic association, including Carney triad, Carney-Stratakis syndrome, familial gastrointestinal stromal tumor syndrome, and neurofibromatosis type 1.
CASE PRESENTATION
Herein, we report a rare case of a 54-year-old Middle-Eastern female with multifocal gastrointestinal stromal tumor mixed type (epithelioid and spindle cell type) with osseous metaplasia. Fluoresce in situ hybridization analysis of platelet-derived growth factor receptor alpha revealed deletion in 42% of the tumor cells studied. Interestingly, next generation sequencing revealed platelet-derived growth factor receptor alpha exon 12 mutation (p.Y555C) and exon 14 mutation (p.N659Y).
CONCLUSIONS
In conclusion, osseous metaplasia in GIST is a very rare event and only few cases are reported in the literature. The number of reported cases is inadequate to confirm the pathogenesis and the prognosis.
Topics: Humans; Female; Aged; Middle Aged; Gastrointestinal Stromal Tumors; Stomach Neoplasms; Metaplasia; Receptors, Platelet-Derived Growth Factor; Mutation
PubMed: 38098096
DOI: 10.1186/s13256-023-04262-9 -
Protein Science : a Publication of the... Feb 2019Heterotrimeric G-proteins are cellular signal transducers. They mainly relay signals from G-protein-coupled receptors (GPCRs). GPCRs function as guanine... (Review)
Review
Heterotrimeric G-proteins are cellular signal transducers. They mainly relay signals from G-protein-coupled receptors (GPCRs). GPCRs function as guanine nucleotide-exchange factors to active these G-proteins. Based on the sequence and functional similarities, these G-proteins are grouped into four subfamilies: G , G , G , and G . The G subfamily consists of two members: G and G . G -mediated signaling pathways play pivotal roles in a variety of physiological processes, while aberrant regulation of this pathway has been identified in various human diseases. Here we summarize the signaling mechanisms and physiological functions of Gα in blood vessel formation and bone homeostasis. We further discuss the expanding roles of Gα in cancers, serving as oncogenes as well as tumor suppressors.
Topics: Animals; Bone and Bones; GTP-Binding Protein alpha Subunits, G12-G13; Humans; Neoplasms; Neovascularization, Pathologic; Oncogene Proteins; Signal Transduction
PubMed: 30345641
DOI: 10.1002/pro.3531 -
Arthritis Research 2002The use of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors (statins) to reduce serum cholesterol is well described. However, the recent finding that statins... (Review)
Review
The use of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors (statins) to reduce serum cholesterol is well described. However, the recent finding that statins have direct effects on bone was unexpected. A number of epidemiological studies have recently been published that explore the effects of statins on bone mineral density and risk of fracture in humans. Statins may act by directly stimulating the expression of bone morphogenetic protein-2 and increasing osteoblast differentiation or, like nitrogen-containing bisphosphonates, may have effects on the mevalonate pathway that leads to inhibition of osteoclast activity and osteoblast apoptosis. In addition, the demonstration that statins can inhibit inflammation and encourage angiogenesis offers other possibilities for action.
Topics: Bone Density; Bone Development; Bone Morphogenetic Protein 2; Bone Morphogenetic Proteins; Bone and Bones; Female; Fractures, Bone; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Inflammation; Male; Neovascularization, Pathologic; Osteoblasts; Transforming Growth Factor beta
PubMed: 12010563
DOI: 10.1186/ar399 -
Tissue Engineering. Part B, Reviews Oct 2012Significant advances have been made in bone tissue engineering (TE) in the past decade. However, classical bone TE strategies have been hampered mainly due to the lack... (Review)
Review
Significant advances have been made in bone tissue engineering (TE) in the past decade. However, classical bone TE strategies have been hampered mainly due to the lack of vascularization within the engineered bone constructs, resulting in poor implant survival and integration. In an effort toward clinical success of engineered constructs, new TE concepts have arisen to develop bone substitutes that potentially mimic native bone tissue structure and function. Large tissue replacements have failed in the past due to the slow penetration of the host vasculature, leading to necrosis at the central region of the engineered tissues. For this reason, multiple microscale strategies have been developed to induce and incorporate vascular networks within engineered bone constructs before implantation in order to achieve successful integration with the host tissue. Previous attempts to engineer vascularized bone tissue only focused on the effect of a single component among the three main components of TE (scaffold, cells, or signaling cues) and have only achieved limited success. However, with efforts to improve the engineered bone tissue substitutes, bone TE approaches have become more complex by combining multiple strategies simultaneously. The driving force behind combining various TE strategies is to produce bone replacements that more closely recapitulate human physiology. Here, we review and discuss the limitations of current bone TE approaches and possible strategies to improve vascularization in bone tissue substitutes.
Topics: Animals; Bone and Bones; Humans; Neovascularization, Pathologic; Tissue Engineering
PubMed: 22765012
DOI: 10.1089/ten.TEB.2012.0012 -
International Journal of Surgery Case... Oct 2022Benign osseous metaplasia (BOM) is a rare entity, with only few cases reported in the breast. Here we present an unusual case of pleomorphic lobular carcinoma of the...
INTRODUCTION AND IMPORTANCE
Benign osseous metaplasia (BOM) is a rare entity, with only few cases reported in the breast. Here we present an unusual case of pleomorphic lobular carcinoma of the breast infiltrating BOM, discuss potential mimics and review the literature.
CASE PRESENTATION
An 86 year-old female presented with right breast lump for two weeks. Clinical examination revealed a palpable mass, associated with skin tethering and nipple inversion. Mammography and ultrasound showed a densely calcified lesion associated with parenchymal distortion. Core biopsy confirmed malignancy and the patient underwent mastectomy and sentinel lymph node biopsy. Histological assessment showed a 45 mm mass of benign bone trabecula infiltrated by invasive grade 2 lobular carcinoma of classic and pleomorphic types with nodal positivity (2/2). The patient received adjuvant radiotherapy to chest wall and axilla for 3 months. She remains well on aromatase inhibitors after 9 months of follow up.
CLINICAL DISCUSSION
Few cases of breast BOM have been reported in the literature commonly in association with benign lesions such as fibroadenomas. So far, only two cases associated with invasive classic lobular carcinoma have been reported in the literature. The main differential is metaplastic (mesenchymal/ matrix producing) carcinoma, in which the osseous component is malignant and the cancer if often of a high grade, basal phenotype.
CONCLUSION
We present the first case of BOM of the breast associated with invasive pleomorphic lobular carcinoma. Awareness of the entity and distinction from metaplastic carcinoma and malignant phyllodes with heterologous element are important to ensure appropriate patient management.
PubMed: 36261938
DOI: 10.1016/j.ijscr.2022.107716