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Steven L Frick - One of the best experts on this subject based on the ideXlab platform.
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Spinal Osteochondroma presenting as atypical spinal curvature: a case report.
Spine, 2003Co-Authors: James F. Fiechtl, John L. Masonis, Steven L FrickAbstract:The case of an 8-year-old girl with hereditary multiple exostosis presenting with atypical spinal curvature is reported. To describe a case of spinal curvature caused by an Osteochondroma, illustrating the need for careful evaluation of patients with hereditary multiple exostosis presenting with “scoliosis.” Osteochondromas have been known to arise in the spinal canal and to present with symptoms of neural compression. Spinal curvature is a rare presenting sign of Osteochondromas. The patient’s medical and radiographic history is reviewed as well as the medical literature. An 8-year-old girl with hereditary multiple exostosis was referred for possible thoracotomy and anterior decompression of a T4 Osteochondroma thought to be causing an atypical “scoliosis.” Further examination, review of the radiographs, and computed tomography scan showed a large L4 Osteochondroma encroaching on the neural elements. The patient’s neurologic symptoms and spinal curvature resolved in the 2 years after surgical excision of the lumbar Osteochondroma. Patients with hereditary multiple exostosis and spinal curvature require further diagnostic evaluation to ensure that an Osteochondroma in the spinal canal is not the cause of that curvature.
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spinal Osteochondroma presenting as atypical spinal curvature a case report
Spine, 2003Co-Authors: James F. Fiechtl, John L. Masonis, Steven L FrickAbstract:STUDY DESIGN The case of an 8-year-old girl with hereditary multiple exostosis presenting with atypical spinal curvature is reported. OBJECTIVE To describe a case of spinal curvature caused by an Osteochondroma, illustrating the need for careful evaluation of patients with hereditary multiple exostosis presenting with "scoliosis." SUMMARY OF BACKGROUND DATA Osteochondromas have been known to arise in the spinal canal and to present with symptoms of neural compression. Spinal curvature is a rare presenting sign of Osteochondromas. METHODS The patient's medical and radiographic history is reviewed as well as the medical literature. RESULTS An 8-year-old girl with hereditary multiple exostosis was referred for possible thoracotomy and anterior decompression of a T4 Osteochondroma thought to be causing an atypical "scoliosis." Further examination, review of the radiographs, and computed tomography scan showed a large L4 Osteochondroma encroaching on the neural elements. The patient's neurologic symptoms and spinal curvature resolved in the 2 years after surgical excision of the lumbar Osteochondroma. CONCLUSIONS Patients with hereditary multiple exostosis and spinal curvature require further diagnostic evaluation to ensure that an Osteochondroma in the spinal canal is not the cause of that curvature.
James F. Fiechtl - One of the best experts on this subject based on the ideXlab platform.
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Spinal Osteochondroma presenting as atypical spinal curvature: a case report.
Spine, 2003Co-Authors: James F. Fiechtl, John L. Masonis, Steven L FrickAbstract:The case of an 8-year-old girl with hereditary multiple exostosis presenting with atypical spinal curvature is reported. To describe a case of spinal curvature caused by an Osteochondroma, illustrating the need for careful evaluation of patients with hereditary multiple exostosis presenting with “scoliosis.” Osteochondromas have been known to arise in the spinal canal and to present with symptoms of neural compression. Spinal curvature is a rare presenting sign of Osteochondromas. The patient’s medical and radiographic history is reviewed as well as the medical literature. An 8-year-old girl with hereditary multiple exostosis was referred for possible thoracotomy and anterior decompression of a T4 Osteochondroma thought to be causing an atypical “scoliosis.” Further examination, review of the radiographs, and computed tomography scan showed a large L4 Osteochondroma encroaching on the neural elements. The patient’s neurologic symptoms and spinal curvature resolved in the 2 years after surgical excision of the lumbar Osteochondroma. Patients with hereditary multiple exostosis and spinal curvature require further diagnostic evaluation to ensure that an Osteochondroma in the spinal canal is not the cause of that curvature.
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spinal Osteochondroma presenting as atypical spinal curvature a case report
Spine, 2003Co-Authors: James F. Fiechtl, John L. Masonis, Steven L FrickAbstract:STUDY DESIGN The case of an 8-year-old girl with hereditary multiple exostosis presenting with atypical spinal curvature is reported. OBJECTIVE To describe a case of spinal curvature caused by an Osteochondroma, illustrating the need for careful evaluation of patients with hereditary multiple exostosis presenting with "scoliosis." SUMMARY OF BACKGROUND DATA Osteochondromas have been known to arise in the spinal canal and to present with symptoms of neural compression. Spinal curvature is a rare presenting sign of Osteochondromas. METHODS The patient's medical and radiographic history is reviewed as well as the medical literature. RESULTS An 8-year-old girl with hereditary multiple exostosis was referred for possible thoracotomy and anterior decompression of a T4 Osteochondroma thought to be causing an atypical "scoliosis." Further examination, review of the radiographs, and computed tomography scan showed a large L4 Osteochondroma encroaching on the neural elements. The patient's neurologic symptoms and spinal curvature resolved in the 2 years after surgical excision of the lumbar Osteochondroma. CONCLUSIONS Patients with hereditary multiple exostosis and spinal curvature require further diagnostic evaluation to ensure that an Osteochondroma in the spinal canal is not the cause of that curvature.
John L. Masonis - One of the best experts on this subject based on the ideXlab platform.
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Spinal Osteochondroma presenting as atypical spinal curvature: a case report.
Spine, 2003Co-Authors: James F. Fiechtl, John L. Masonis, Steven L FrickAbstract:The case of an 8-year-old girl with hereditary multiple exostosis presenting with atypical spinal curvature is reported. To describe a case of spinal curvature caused by an Osteochondroma, illustrating the need for careful evaluation of patients with hereditary multiple exostosis presenting with “scoliosis.” Osteochondromas have been known to arise in the spinal canal and to present with symptoms of neural compression. Spinal curvature is a rare presenting sign of Osteochondromas. The patient’s medical and radiographic history is reviewed as well as the medical literature. An 8-year-old girl with hereditary multiple exostosis was referred for possible thoracotomy and anterior decompression of a T4 Osteochondroma thought to be causing an atypical “scoliosis.” Further examination, review of the radiographs, and computed tomography scan showed a large L4 Osteochondroma encroaching on the neural elements. The patient’s neurologic symptoms and spinal curvature resolved in the 2 years after surgical excision of the lumbar Osteochondroma. Patients with hereditary multiple exostosis and spinal curvature require further diagnostic evaluation to ensure that an Osteochondroma in the spinal canal is not the cause of that curvature.
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spinal Osteochondroma presenting as atypical spinal curvature a case report
Spine, 2003Co-Authors: James F. Fiechtl, John L. Masonis, Steven L FrickAbstract:STUDY DESIGN The case of an 8-year-old girl with hereditary multiple exostosis presenting with atypical spinal curvature is reported. OBJECTIVE To describe a case of spinal curvature caused by an Osteochondroma, illustrating the need for careful evaluation of patients with hereditary multiple exostosis presenting with "scoliosis." SUMMARY OF BACKGROUND DATA Osteochondromas have been known to arise in the spinal canal and to present with symptoms of neural compression. Spinal curvature is a rare presenting sign of Osteochondromas. METHODS The patient's medical and radiographic history is reviewed as well as the medical literature. RESULTS An 8-year-old girl with hereditary multiple exostosis was referred for possible thoracotomy and anterior decompression of a T4 Osteochondroma thought to be causing an atypical "scoliosis." Further examination, review of the radiographs, and computed tomography scan showed a large L4 Osteochondroma encroaching on the neural elements. The patient's neurologic symptoms and spinal curvature resolved in the 2 years after surgical excision of the lumbar Osteochondroma. CONCLUSIONS Patients with hereditary multiple exostosis and spinal curvature require further diagnostic evaluation to ensure that an Osteochondroma in the spinal canal is not the cause of that curvature.
Judith V.m.g. Bovée - One of the best experts on this subject based on the ideXlab platform.
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Secondary peripheral chondrosarcoma evolving from Osteochondroma as a result of outgrowth of cells with functional EXT
Oncogene, 2012Co-Authors: C E De Andrea, Christianne M A Reijnders, Hidde M. Kroon, D. De Jong, Pancras C W Hogendoorn, Karoly Szuhai, Judith V.m.g. BovéeAbstract:Secondary peripheral chondrosarcoma is the result of malignant transformation of a pre-existing Osteochondroma, the most common benign bone tumor. Osteochondromas are caused by genetic abnormalities in EXT1 or EXT2 : homozygous deletion of EXT1 characterizes sporadic Osteochondromas (non-familial/solitary), and germline mutations in EXT1 or EXT2 combined with loss of heterozygosity define hereditary multiple Osteochondromas. While cells with homozygous inactivation of EXT and wild-type cells shape Osteochondromas, the cellular composition of secondary peripheral chondrosarcomas and the role of EXT in their formation have remained unclear. We report using a targeted-tiling-resolution oligo-array-CGH (array comparative genomic hybridization) that homozygous deletions of EXT1 or EXT2 are much less frequently detected (2/17, 12%) in sporadic secondary peripheral chondrosarcomas than expected based on the assumption that they originate in sporadic Osteochondromas, in which homozygous inactivation of EXT1 is found in ∼80% of our cases. FISH with an EXT1 probe confirmed that, unlike sporadic Osteochondromas, cells from sporadic secondary peripheral chondrosarcomas predominantly retained one (hemizygous deleted loci) or both copies (wild-type) of the EXT1 locus. By immunohistochemistry, we confirm the presence of cells with dysfunctional EXT1 in sporadic Osteochondromas and show cells with functional EXT1 in sporadic secondary peripheral chondrosarcomas. These immuno results were verified in Osteochondromas and secondary peripheral chondrosarcomas in the setting of hereditary multiple Osteochondromas. Our data therefore point to a model of oncogenesis in which the Osteochondroma creates a niche in which wild-type cells with functional EXT are predisposed to acquire other mutations giving rise to secondary peripheral chondrosarcoma, indicating that EXT -independent mechanisms are involved in the pathogenesis of secondary peripheral chondrosarcoma.
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EXTra hit for mouse Osteochondroma
Proceedings of the National Academy of Sciences of the United States of America, 2010Co-Authors: Judith V.m.g. BovéeAbstract:Osteochondromas are the most common benign bone tumors that can occur either singularly or in hereditary multiple Osteochondromas syndrome (MO; previously known as hereditary multiple exostoses). Osteochondromas histologically resemble the growth plate and are located preferentially at the long bones. MO is an autosomal dominant disorder caused by mutations in either EXT1 at 8q24 (65%) or EXT2 at 11p11-13 (35%). After the cloning of these genes in 1995 and 1996, respectively, it has taken some time for their function to be known. The breakthrough came unexpectedly in 1998 from a totally different field. By searching for genes involved in the biosynthetic pathway of glycosaminoglycans, it was discovered that EXT1 was a glycosyltransferase involved in heparan sulfate (HS) biosynthesis (1). The challenge since that time was to resolve the exact mechanism by which dysfunctional EXT and defective HS result in Osteochondroma formation. The conditional mouse model for Ext1 presented by Jones et al. (2) in PNAS puts some of the controversies to rest. The authors provide compelling evidence that loss of heterozygosity (LOH) is required for mouse Osteochondroma formation and suggest that a proliferating chondrocyte is its cell of origin. In addition, the authors show a heterogeneous, mosaic composition of the cartilaginous cap.
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the role of ext1 in nonhereditary Osteochondroma identification of homozygous deletions
Journal of the National Cancer Institute, 2007Co-Authors: Liesbeth Hameetman, Judith V.m.g. Bovée, Karoly Szuhai, Antonie Hm Taminiau, Annemarie Cletonjansen, Ayse Yavas, Jeroen Knijnenburg, Mark Van Duin, Herman Van Dekken, Pancras C W HogendoornAbstract:Osteochondroma is the most common benign bone tumor and represents approximately 50% of all surgically treated benign bone tumors ( 1 ). Osteochondromas arise at the external surface of bones that are formed by endochondral ossification, and they consist of a cartilage cap that covers a bony stalk that is continuous with the underlying bone. Chondrocytes located in the cartilage cap have the same spatial organization as those in the epiphyseal growth plate and also undergo endochondral ossification ( 1 ). The cartilage cap is covered by a perichondrium that is continuous with the periosteum of the underlying bone. Approximately 15% of Osteochondromas occur in the context of Multiple Osteochondromas, a hereditary disorder that is characterized by multiple Osteochondromas, the number of which can vary substantially between and within families, and is inherited in an autosomal dominant manner ( 2 , 3 ), but the vast majority of Osteochondromas present as solitary
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Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management
Hereditary Cancer in Clinical Practice, 2004Co-Authors: Liesbeth Hameetman, Judith V.m.g. Bovée, Antonie Hm Taminiau, Herman M Kroon, Pancras C W HogendoornAbstract:Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple Osteochondromas and a variety of orthopaedic deformities. Two genes causative of Multiple Osteochondromas, Exostosin-1 (EXT1) and Exostosin-2 (EXT2), have been identified, which act as tumour suppressor genes. Osteochondroma can progress towards its malignant counterpart, secondary peripheral chondrosarcoma and therefore adequate follow-up of Multiple Osteochondroma patients is important in order to detect malignant transformation early. This review summarizes the considerable recent basic scientific and clinical understanding resulting in a multi-step genetic model for peripheral cartilaginous tumorigenesis. This enabled us to suggest guidelines for clinical management of Multiple Osteochondroma patients. When a patient is suspected to have Multiple Osteochondroma, the radiologic documentation, histology and patient history have to be carefully reviewed, preferably by experts and if indicated for Multiple Osteochondromas, peripheral blood of the patient can be screened for germline mutations in either EXT1 or EXT2 . After the Multiple Osteochondroma diagnosis is established and all tumours are identified, a regular follow-up including plain radiographs and base-line bone scan are recommended.
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Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management
Hereditary Cancer in Clinical Practice, 2004Co-Authors: Liesbeth Hameetman, Judith V.m.g. Bovée, Antonie Hm Taminiau, Herman M Kroon, Pancras C W HogendoornAbstract:Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple Osteochondromas and a variety of orthopaedic deformities. Two genes causative of Multiple Osteochondromas, Exostosin-1 (EXT1) and Exostosin-2 (EXT2), have been identified, which act as tumour suppressor genes. Osteochondroma can progress towards its malignant counterpart, secondary peripheral chondrosarcoma and therefore adequate follow-up of Multiple Osteochondroma patients is important in order to detect malignant transformation early. This review summarizes the considerable recent basic scientific and clinical understanding resulting in a multi-step genetic model for peripheral cartilaginous tumorigenesis. This enabled us to suggest guidelines for clinical management of Multiple Osteochondroma patients. When a patient is suspected to have Multiple Osteochondroma, the radiologic documentation, histology and patient history have to be carefully reviewed, preferably by experts and if indicated for Multiple Osteochondromas, peripheral blood of the patient can be screened for germline mutations in either EXT1 or EXT2 . After the Multiple Osteochondroma diagnosis is established and all tumours are identified, a regular follow-up including plain radiographs and base-line bone scan are recommended.
Jeremy J Reynolds - One of the best experts on this subject based on the ideXlab platform.
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long term outcomes in primary spinal Osteochondroma a multicenter study of 27 patients
Journal of Neurosurgery, 2015Co-Authors: Daniel M Sciubba, Dean Chou, Mohamed Macki, Mohamad Bydon, Niccole M Germscheid, Jean Paul Wolinsky, Stefano Boriani, Chetan Bettegowda, Alessandro Luzzati, Jeremy J ReynoldsAbstract:OBJECT Clinical outcomes in patients with primary spinal Osteochondromas are limited to small series and sporadic case reports. The authors present data on the first long-term investigation of spinal Osteochondroma cases. METHODS An international, multicenter ambispective study on primary spinal Osteochondroma was performed. Patients were included if they were diagnosed with an Osteochondroma of the spine and received surgical treatment between October 1996 and June 2012 with at least 1 follow-up. Perioperative prognostic variables, including patient age, tumor size, spinal level, and resection, were analyzed in reference to long-term local recurrence and survival. Tumor resections were compared using Enneking appropriate (EA) or Enneking inappropriate surgical margins. RESULTS Osteochondromas were diagnosed in 27 patients at an average age of 37 years. Twenty-two lesions were found in the mobile spine (cervical, thoracic, or lumbar) and 5 in the fixed spine (sacrum). Twenty-three cases (88%) were benign ...
