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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 -
Journal of Clinical Ultrasound : JCU Jun 2024Endometrial osseous metaplasia (EOM) is a rare condition characterized by abnormal bone formation in the endometrium. This acts as a foreign body in the uterus. The...
Endometrial osseous metaplasia (EOM) is a rare condition characterized by abnormal bone formation in the endometrium. This acts as a foreign body in the uterus. The commonest clinical presentation is secondary infertility. Transvaginal ultrasonography is the mainstay of first-line diagnosis. Hysteroscopy confirms the diagnosis and aids in complete removal. Diagnosis of this condition is crucial as post-treatment fertility outcomes are good. This case highlights the importance of three-dimensional ultrasonography before infertility treatment and after hysteroscopic removal of osseous metaplasia to look for reactive endometrial polyps which may interfere with the embryo implantation and spontaneous conception altering the post-surgical fertility outcome.
PubMed: 38830834
DOI: 10.1002/jcu.23738 -
Frontiers in Veterinary Science 2023A 13-year-old neutered male Korean short-hair cat presented with anorexia, lethargy, and a severely distended abdomen, suggestive of ascites. Abdominocentesis yielded...
A 13-year-old neutered male Korean short-hair cat presented with anorexia, lethargy, and a severely distended abdomen, suggestive of ascites. Abdominocentesis yielded serosanguineous fluid. A subsequent diagnostic workup, including blood tests, ascitic fluid analysis, imaging studies [radiography, ultrasound, and computed tomography (CT)], and histopathological examination, was performed to identify the underlying cause. Imaging studies revealed characteristics of encapsulating peritoneal sclerosis (EPS) such as peritoneal thickening, fat stranding, and calcification. During laparotomy, fibrous membranes encapsulating the abdominal organs and ascites were observed, and multiple calcified regions were detected on the abdominal wall. Histopathological analysis confirmed the diagnosis of poorly differentiated invasive malignant neoplasms, which were further classified as carcinomatosis based on positive cytokeratin and negative vimentin immunohistochemistry results. To our knowledge, this is the first report of sclerosing peritoneal carcinomatosis with osseous metaplasia in a cat.
PubMed: 38105775
DOI: 10.3389/fvets.2023.1298736 -
Anais Brasileiros de Dermatologia Jun 2024
PubMed: 38853108
DOI: 10.1016/j.abd.2023.05.012 -
Frontiers in Endocrinology 2024Osteoporosis (OP) is a chronic systemic bone metabolism disease characterized by decreased bone mass, microarchitectural deterioration, and fragility fractures. With the... (Review)
Review
Osteoporosis (OP) is a chronic systemic bone metabolism disease characterized by decreased bone mass, microarchitectural deterioration, and fragility fractures. With the demographic change caused by long lifespans and population aging, OP is a growing health problem. The role of miRNA in the pathogenesis of OP has also attracted widespread attention from scholars in recent years. Type H vessels are unique microvessels of the bone and have become a new focus in the pathogenesis of OP because they play an essential role in osteogenesis-angiogenesis coupling. Previous studies found some miRNAs regulate type H vessel formation through the regulatory factors, including platelet-derived growth factor-BB (PDGF-BB), hypoxia-inducible factor 1α (HIF-1α), vascular endothelial growth factor (VEGF), and so on. These findings help us gain a more in-depth understanding of the relationship among miRNAs, type H vessels, and OP to find a new perspective on treating OP. In the present mini-review, we will introduce the role of type H vessels in the pathogenesis of OP and the regulation of miRNAs on type H vessel formation by affecting regulatory factors to provide some valuable insights for future studies of OP treatment.
Topics: Animals; Humans; Bone and Bones; MicroRNAs; Microvessels; Neovascularization, Pathologic; Osteogenesis; Osteoporosis
PubMed: 38883597
DOI: 10.3389/fendo.2024.1394785 -
APMIS : Acta Pathologica,... Aug 2023Native cardiac valves in the setting of chronic injury may become thickened and disrupted by dystrophic calcification, which impede valve structure/function, and there...
Native cardiac valves in the setting of chronic injury may become thickened and disrupted by dystrophic calcification, which impede valve structure/function, and there may be evidence of chondromatous (i.e., cartilaginous, CM) metaplasia admixed with dystrophic calcification. In order to characterize the presence of CM in native cardiac valves - with particular focus upon aortic valves - a retrospective review of the histologic features of 46 native aortic valves (identified from 1094 sequentially reviewed native valves of all types) containing CM were focused upon, as well as correlation with other histopathologic features, and clinical and echocardiographic findings. The prevalence rate of CM was low, and greatest among aortic valves, less in mitral valves, and never identified in tricuspid or pulmonic valves. CM in aortic valves was less commonly identified in patients with a history of autoimmune disease. The rate of CM increased with degree of valve thickening and/or calcification. The proportion of aortic valves with CM increased with an increasing degree of stenosis and decreasing degree of regurgitation, and aortic valves with CM were more commonly associated with a smaller aortic valve area, and greater peak and mean gradients. The rate of osseous metaplasia, arterial vessels, capillary bed formation, and chronic inflammation were greater in aortic valves with CM compared to valves without. CM within aortic valves is an infrequent albeit identifiable histopathologic alteration associated with chronic valve disease alongside changes in valve thickening and calcification.
Topics: Humans; Aortic Valve; Mitral Valve; Echocardiography; Inflammation; Calcinosis; Metaplasia
PubMed: 37337415
DOI: 10.1111/apm.13340 -
Biomedical Reports Jan 2024Pulmonary osseous metaplasia is a disease in which mature bone is found within the parenchyma of the lung. The current study presents a case of pulmonary osseous...
Pulmonary osseous metaplasia is a disease in which mature bone is found within the parenchyma of the lung. The current study presents a case of pulmonary osseous metaplasia in a 64-year-old female. The patient was previously diagnosed with transitional cell carcinoma (TCC) of the lower ureter. During a routine check-up, an enhancing basal lung nodule was found on chest computed tomography scan, which was suspected to be metastatic lung disease. The patient underwent a thoracoscopic resection of the nodule. The histopathological examination of the specimen confirmed it to be myeloid osseous metaplasia. The disease usually has no significant complications and can also be found in association with other pulmonary diseases. Very limited information is available on the phenomenon; therefore, there is no exact treatment guide for clinicians to follow. In conclusion, myeloid osseous metaplasia of the lung is a rare finding, and based on this report, it may be associated with TCC.
PubMed: 38124770
DOI: 10.3892/br.2023.1691 -
Cureus May 2024Rectal mucosal prolapse is uncommon in children. While most patients present with rectal bleeding and constipation, the occurrence of osseous metaplasia within the...
Rectal mucosal prolapse is uncommon in children. While most patients present with rectal bleeding and constipation, the occurrence of osseous metaplasia within the prolapsed mucosa is extremely rare. Overlapping clinical, gross, and histological features between rectal mucosal prolapse polyps and malignancy pose a challenge for diagnoses. We describe a case of a 16-year-old male who had a rectal mucosal prolapsed polyp with osseous metaplasia. He initially presented due to periumbilical pain with a sore throat and fever. Incidentally, during the workup of his periumbilical pain, he was found to have a soft tissue mass in his rectum on a CT scan, with a biopsy confirming the diagnosis. The case was complicated by the development of sepsis. The patient was treated with empiric antibiotics and was discharged without further complications.
PubMed: 38826948
DOI: 10.7759/cureus.59480 -
Revista Espanola de Patologia :... 2024A 62-year-old male presented with pain and haematuria starting 3 months before. The computed tomography showed focal and mural bladder thickening with ureteropelvic...
A 62-year-old male presented with pain and haematuria starting 3 months before. The computed tomography showed focal and mural bladder thickening with ureteropelvic dilatation. The following transurethral bladder resection revealed a high-grade muscle-invasive urothelial carcinoma. In the subsequent cystoprostatectomy we found the same tumour, but adding focal tumour-associated stromal osseous metaplasia. Ossifying metaplasia is an extremely rare feature in urothelial carcinoma, with a few reported cases and represents a diagnostic challenge, mimicking radiotherapy-induced sarcoma or sarcomatoid carcinoma.
Topics: Male; Humans; Middle Aged; Urinary Bladder Neoplasms; Carcinoma, Transitional Cell; Urinary Bladder; Cystectomy; Metaplasia
PubMed: 38599730
DOI: 10.1016/j.patol.2023.09.002 -
Journal of Cytology 2024
PubMed: 38779610
DOI: 10.4103/joc.joc_115_23