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Journal of Bone Oncology Aug 2023Adamantinoma is a rare primary low-grade malignant tumour of the appendicular skeleton most commonly found in the tibia. It has an indolent course, with local... (Review)
Review
Adamantinoma is a rare primary low-grade malignant tumour of the appendicular skeleton most commonly found in the tibia. It has an indolent course, with local recurrences and lung metastases occurring over a protracted duration. There have been several suggestions pertaining to a vascular origin in the literature, however, histogenesis remains unclear. Currently, guidelines are not available pertaining to clinical management. This paper presents an overview of the current literature regarding this unusual malignancy. It also explores disease etiology and acknowledges the benefits and challenges of investigations pertaining to diagnosis. It recognizes a paucity of recommendations regarding appropriate surveillance and follow up. This review aims to assist clinicians in the building of a consensus opinion for optimal adamantinoma case management under current circumstances where formal guidelines do not exist.
PubMed: 37408735
DOI: 10.1016/j.jbo.2023.100489 -
Ochsner Journal 2023Metastasis to the bone in breast cancer patients is common, but metastasis specifically to the appendicular skeleton is rare. A limited number of cases in the...
Metastasis to the bone in breast cancer patients is common, but metastasis specifically to the appendicular skeleton is rare. A limited number of cases in the literature describe metastatic breast cancer to the distal limbs, also known as acrometastasis. Acrometastasis in a patient with breast cancer should prompt evaluation for diffuse metastatic disease. We describe the case of a patient with recurrent triple-negative metastatic breast cancer who presented with thumb pain and swelling. Radiograph of the hand demonstrated focal soft tissue swelling over the first distal phalanx with erosive changes to the bone. Palliative radiation to the thumb resulted in symptom improvement. However, the patient succumbed to widespread metastatic disease. At autopsy, the thumb lesion was confirmed as metastatic breast adenocarcinoma. Metastatic breast carcinoma to the distal appendicular skeleton, specifically to the first digit, is a rare presentation of bony metastasis and can be an indication of late, widespread disease.
PubMed: 37323524
DOI: 10.31486/toj.22.0105 -
Revista Brasileira de Ortopedia Dec 2023Vertebral hemangioma is a benign vascular tumor that is usually asymptomatic and is discovered incidentally on imaging. When symptomatic, the most frequent presentation...
Vertebral hemangioma is a benign vascular tumor that is usually asymptomatic and is discovered incidentally on imaging. When symptomatic, the most frequent presentation occurs in the form of vague back pain of insidious onset and, in rare cases, may be associated with root or spinal compression, causing sensory and motor deficits. The authors report the case of a 33-year-old man, previously healthy, with a diagnosis of thoracic spine hemangioma at multiple levels, in the sternum, in the scapula and in the costal arches; all lesions were symptomatic, and surgical intervention was required; one of the lesions at the thoracic spine level evolved with spinal compression and acute neurological deficit, requiring urgent surgical intervention. Intraosseous hemangiomas represent < 1% of all bone tumors, having few reports of multifocal presentation in the axial and appendicular skeleton. In the literature review, no other case of aggressive multifocal intraosseous hemangioma with this presentation was found, including associated neurological symptoms in the same case.
PubMed: 38077764
DOI: 10.1055/s-0040-1722585 -
Journal of Bone and Mineral Research :... Dec 2023Patients with classical melorheostosis exhibit exuberant bone overgrowth in the appendicular skeleton, resulting in pain and deformity with no known treatment. Most...
Patients with classical melorheostosis exhibit exuberant bone overgrowth in the appendicular skeleton, resulting in pain and deformity with no known treatment. Most patients have somatic, mosaic mutations in MAP2K1 (encoding the MEK1 protein) in osteoblasts and overlying skin. As with most rare bone diseases, lack of affected tissue has limited the opportunity to understand how the mutation results in excess bone formation. The aim of this study was to create a cellular model to study melorheostosis. We obtained patient skin cells bearing the MAP2K1 mutation (affected cells), and along with isogenic control normal fibroblasts reprogrammed them using the Sendai virus method into induced pluripotent stem cells (iPSCs). Pluripotency was validated by marker staining and embryoid body formation. iPSCs were then differentiated to mesenchymal stem cells (iMSCs) and validated by flow cytometry. We confirmed retention of the MAP2K1 mutation in iMSCs with polymerase chain reaction (PCR) and confirmed elevated MEK1 activity by immunofluorescence staining. Mutation-bearing iMSCs showed significantly elevated vascular endothelial growth factor (VEGF) secretion, proliferation and collagen I and IV secretion. iMSCs were then differentiated into osteoblasts, which showed increased mineralization at 21 days and increased VEGF secretion at 14 and 21 days of differentiation. Administration of VEGF to unaffected iMSCs during osteogenic differentiation was sufficient to increase mineralization. Blockade of VEGF by bevacizumab reduced mineralization in iMSC-derived affected osteoblasts and in affected primary patient-derived osteoblasts. These data indicate that patient-derived induced pluripotent stem cells recreate the elevated MEK1 activity, increased mineralization, and increased proliferation seen in melorheostosis patients. The increased bone formation is driven, in part, by abundant VEGF secretion. Modifying the activity of VEGF (a known stimulator of osteoblastogenesis) represents a promising treatment pathway to explore. iPSCs may have wide applications to other rare bone diseases. © 2023 American Society for Bone and Mineral Research (ASBMR).
Topics: Humans; Bone and Bones; Cell Differentiation; MAP Kinase Kinase 1; Melorheostosis; Osteogenesis; Vascular Endothelial Growth Factor A
PubMed: 37737377
DOI: 10.1002/jbmr.4915