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Journal of Cellular Biochemistry Oct 2019Osteochondroma is a benign autosomal dominant hereditary disease characterized by abnormal proliferation of cartilage in the long bone. It is divided into solitary... (Review)
Review
Osteochondroma is a benign autosomal dominant hereditary disease characterized by abnormal proliferation of cartilage in the long bone. It is divided into solitary osteochondroma and hereditary multiple exostoses (HMEs). The exostosin-1 (EXT-1) and exostosin-2 (EXT-2) gene mutations are well-defined molecular mechanisms in the pathogenesis of HME. EXT-1 and EXT-2 encode glycosyltransferases that are necessary for the synthesis of heparin sulfate. Accumulating evidence suggests that mutations in the EXT family induce changes in isolated hypogonadotropic hypogonadism-parathyroid hormone-related protein, bone morphogenetic protein, and fibroblast growth factor signaling pathways. Studies have also found that a large number of microRNAs (miRNAs) are abnormally expressed in osteochondroma tissues, and some of them also participate in several major signaling pathways. The regulation of miRNA expression could be another breakthrough in the treatment of osteochondroma. Although the pathogenesis of osteochondroma is very complicated, significant progress has been made in recent years. It is hoped that the pathogenesis of osteochondroma will be clearly understood and the most effective methods for the prevention and treatment of osteochondroma will be determined. This review provides an update on the recent progress in the interpretation of the underlying molecular mechanisms of osteochondroma.
Topics: Gene Expression Regulation, Neoplastic; Humans; MicroRNAs; N-Acetylglucosaminyltransferases; Neoplasm Proteins; Osteochondroma; RNA, Neoplasm; Signal Transduction
PubMed: 31211456
DOI: 10.1002/jcb.29155 -
World Neurosurgery May 2021Osteochondroma is described as a capped benign bony neoplasm that forms on the outer surface of bone. These tumors affect nearly 6 million people per year. Although... (Meta-Analysis)
Meta-Analysis Review
Osteochondroma is described as a capped benign bony neoplasm that forms on the outer surface of bone. These tumors affect nearly 6 million people per year. Although osteochondromas most often involve the appendicular skeleton, many involve the spine, with many cases located in the cervical spine. When osteochondromas involve the spine, they can present with a variety of symptoms, including pain, radiculopathy, and myelopathy, which may necessitate surgical treatment. Spinal osteochondromas can be classified into 2 types: multiple osteochondromas in the context of patients with multiple hereditary exostosis (MHE) and solitary osteochondroma or solitary exostosis (SE). Previous reviews have captured only some of the available literature on cervical osteochondromas and have generally focused on either SE or those associated with MHE. The purpose of our review was to provide an extensive review of all previously reported cervical osteochondromas and to compare osteochondroma characteristics, clinical presentation, and outcomes in the context of MHE and SE.
Topics: Cervical Vertebrae; Disease Management; Humans; Osteochondroma; Spinal Neoplasms; Treatment Outcome
PubMed: 33561553
DOI: 10.1016/j.wneu.2021.01.148 -
Archives of Pathology & Laboratory... Jan 2022A number of fibro-osseous and osteocartilaginous lesions, especially common in the small bones of the hand and feet, pose a diagnostic challenge and have historically... (Review)
Review
CONTEXT.—
A number of fibro-osseous and osteocartilaginous lesions, especially common in the small bones of the hand and feet, pose a diagnostic challenge and have historically been thought to be reactive lesions. However, modern molecular techniques when supplementing clinical, radiographic, and histologic evaluation suggest they may, in fact, be neoplasms.
OBJECTIVE.—
To review the clinical presentation and histopathologic, molecular, and radiologic features of selective bone lesions, focusing most specifically on subungual exostosis, florid reactive periostitis, and bizarre periosteal osteochondromatous proliferation.
DATA SOURCES.—
Literature review and personal experience are the sources of this review.
CONCLUSIONS.—
Some lesions previously thought to be reactive are locally aggressive and demonstrate reproducible molecular abnormalities, and thus may be neoplasms. Although most common in the bones of the fingers and toes, these lesions also occur in long and other bones. The clinical presentations, radiologic appearances, and histopathologic features often overlap, making the diagnosis challenging, and these lesions may require molecular evaluation to maximize accurate prognostication.
Topics: Bone Neoplasms; Diagnosis, Differential; Exostoses; Hand; Humans; Osteochondroma; Periostitis
PubMed: 33946096
DOI: 10.5858/arpa.2020-0817-RA -
Skeletal Radiology Apr 2022Ollier disease and Maffucci syndrome are the commonest enchondromatosis subtypes, arising from non-hereditary mutations in the IDH1 and IDH2 genes, presenting in... (Review)
Review
Ollier disease and Maffucci syndrome are the commonest enchondromatosis subtypes, arising from non-hereditary mutations in the IDH1 and IDH2 genes, presenting in childhood and being characterised by multiple enchondromas. Maffucci syndrome also includes multiple soft tissue haemangiomas. Aside from developing bony masses, osseous deformity and pathological fracture, ~ 40% of these patients develop secondary central chondrosarcoma, and there is increased risk of non-skeletal malignancies such as gliomas and mesenchymal ovarian tumours. In this review, we outline the molecular genetics, pathology and multimodality imaging features of solitary enchondroma, Ollier disease and Maffucci syndrome, along with their associated skeletal complications, in particular secondary chondrosarcoma. Given the lifelong risk of malignancy, imaging follow-up will also be explored. Metachondromatosis, a rare enchondromatosis subtype characterised by enchondromas and exostoses, will also be briefly outlined.
Topics: Bone Neoplasms; Chondrosarcoma; Enchondromatosis; Exostoses, Multiple Hereditary; Humans; Syndrome
PubMed: 34302201
DOI: 10.1007/s00256-021-03870-0 -
Skeletal Radiology Oct 2021Solitary osteochondromas are common, benign hyaline cartilage-capped exostoses that primarily arise from the metaphyses of long and flat bones. Diaphyseal aclasis is an... (Review)
Review
Solitary osteochondromas are common, benign hyaline cartilage-capped exostoses that primarily arise from the metaphyses of long and flat bones. Diaphyseal aclasis is an autosomal dominant condition resulting from EXT1 or EXT2 gene mutations and is characterized by multifocal osteochondromas. These can result in a wide spectrum of complications, such as skeletal deformity, neurological and vascular complications, adventitial bursa formation, fracture, and rarely malignant transformation to peripheral chondrosarcoma. In this review, we outline in detail the multimodality imaging features of DA and its associated complications.
Topics: Bone Neoplasms; Chondrosarcoma; Diagnostic Imaging; Exostoses, Multiple Hereditary; Humans; Mutation; Osteochondroma
PubMed: 33791832
DOI: 10.1007/s00256-021-03770-3 -
RoFo : Fortschritte Auf Dem Gebiete Der... Mar 2021Chondrogenic tumors are the most frequent primary bone tumors. Malignant chondrogenic tumors represent about one quarter of malignant bone tumors. Benign chondrogenic... (Review)
Review
BACKGROUND
Chondrogenic tumors are the most frequent primary bone tumors. Malignant chondrogenic tumors represent about one quarter of malignant bone tumors. Benign chondrogenic bone tumors are frequent incidental findings at imaging. Radiological parameters may be helpful for identification, characterization, and differential diagnosis.
METHODS
Systematic PubMed literature research. Identification and review of studies analyzing and describing imaging characteristics of chondrogenic bone tumors.
RESULTS AND CONCLUSIONS
The 2020 World Health Organization (WHO) classification system differentiates between benign, intermediate (locally aggressive or rarely metastasizing), and malignant chondrogenic tumors. On imaging, typical findings of differentiated chondrogenic tumors are lobulated patterns with a high signal on T2-weighted magnetic resonance imaging (MRI) and ring- and arc-like calcifications on conventional radiography and computed tomography (CT). Depending on the entity, the prevalence of this chondrogenic pattern differs. While high grade tumors may be identified due to aggressive imaging patterns, the differentiation between benign and intermediate grade chondrogenic tumors is challenging, even in an interdisciplinary approach.
KEY POINTS
· The WHO defines benign, intermediate, and malignant chondrogenic bone tumors. · Frequent benign tumors: osteochondroma and enchondroma; Frequent malignant tumor: conventional chondrosarcoma. · Differentiation between enchondroma versus low-grade chondrosarcoma is challenging for radiologists and pathologists. · Pain, deep scalloping, cortical destruction, bone expansion, soft tissue component: favor chondrosarcoma. · Potential malignant transformation of osteochondroma: progression after skeletal maturity, cartilage cap thickness (> 2 cm adult; > 3 cm child). · Potentially helpful advanced imaging methods: Dynamic MRI, texture analysis, FDG-PET/CT.
CITATION FORMAT
· Engel H, Herget GW, Füllgraf H et al. Chondrogenic Bone Tumors: The Importance of Imaging Characteristics. Fortschr Röntgenstr 2021; 193: 262 - 274.
Topics: Adult; Bone Neoplasms; Child; Chondroma; Chondrosarcoma; Humans; Osteochondroma; Positron Emission Tomography Computed Tomography
PubMed: 33152784
DOI: 10.1055/a-1288-1209 -
Joint Bone Spine Mar 2022
Topics: Bone Neoplasms; Cervical Vertebrae; Humans; Osteochondroma
PubMed: 34715354
DOI: 10.1016/j.jbspin.2021.105305 -
FP Essentials Jun 2020Primary benign bone tumors are uncommon and most often affect children and young adults. They typically are detected incidentally on imaging, though some patients...
Primary benign bone tumors are uncommon and most often affect children and young adults. They typically are detected incidentally on imaging, though some patients present with pain, swelling, or other symptoms. The four main categories of benign bone tumor are: bone-forming (eg, osteoid osteoma, osteoblastoma, fibrous dysplasia, enostosis), cartilage-forming (eg, osteochondroma, enchondroma), connective tissue, and vascular; the latter two are rare. A fifth category is idiopathic (eg, giant cell tumor, aneurysmal bone cyst, simple bone cyst). Osteochondromas are the most common, accounting for 30% to 35% of benign bone tumors. Giant cell tumors account for 20%, osteoblastomas for 14%, and osteoid osteomas for 12%. All others are less common. Diagnosis mainly is via imaging; biopsy rarely is required. Management varies with tumor type, location, symptoms, and risk of recurrence. Some (eg, enchondroma, osteochondroma, fibrous dysplasia, enostosis) typically are asymptomatic, and generally require no intervention. Others (eg, osteoid osteoma, aneurysmal bone cyst, simple bone cyst) can cause symptoms and require percutaneous ablation or surgery. Still others (eg, giant cell tumor, osteoblastoma) can be aggressive and require surgery and other therapies. Malignant transformation is rare for all benign bone tumors, but patients with these tumors should be monitored with serial imaging.
Topics: Biopsy; Bone Neoplasms; Child; Diagnosis, Differential; Humans; Osteoblastoma; Osteoma, Osteoid; Young Adult
PubMed: 32573182
DOI: No ID Found -
Heliyon Jan 2023Our previous study in genetic mouse models found that NFATc1 and NFATc2 suppress osteochondroma formation from entheseal progenitors. However, it remains unclear whether...
BACKGROUND
Our previous study in genetic mouse models found that NFATc1 and NFATc2 suppress osteochondroma formation from entheseal progenitors. However, it remains unclear whether NFAT signaling is also involved in human osteochondromagenesis. As the first step in addressing this question, the current study aimed to determine the expression patterns of NFATC1 and NFATC2 in human osteochondroma samples.
METHODS
Immunohistochemistry (IHC) was used to examine and analyze NFATC1 and NFATC2 expression in human osteochondroma samples. The human periosteum was used to map the expression of NFATC1 under physiological conditions by IHC. Furthermore, human periosteal progenitors were isolated and identified from the periosteal tissues of bone fracture healing patients. The expression of NFATC1 in human periosteal progenitors was characterized by Western blotting compared to human bone marrow stromal cells (BMSC).
RESULTS
The IHC results showed that the expression of NFATC1 was undetectable in most human osteochondromas cells, and only a small proportion of osteochondroma cells, especially clonally grown chondrocytes, showed positive staining of NFATC1. NFATC2 expression was also undetectable in most chondrocytes in human osteochondromas. The mouse and human periosteum showed a comparable ratio of NFATC1 positive cells (9.56 ± 0.80% 11.04 ± 2.05%, = 0.3101). Furthermore, Western blotting analysis revealed that NFATC1 expression was highly enriched in human periosteal progenitors compared to BMSC.
CONCLUSIONS
NFATC1 and NFATC2 are undetectable in most human osteochondroma chondrocytes. The expression pattern of NFATC1 in human osteochondromas and the normal periosteum suggests that NFAT signaling could be suppressed during human osteochondromagenesis.
PubMed: 36747924
DOI: 10.1016/j.heliyon.2023.e13018 -
Journal of Orthopaedic Case Reports Jul 2023Osteochondroma of the scapula constitutes only 3-5% of all osteochondromas; osteochondroma on dorsal aspect of scapula is a rare entity. Diagnosis is almost always... (Review)
Review
INTRODUCTION
Osteochondroma of the scapula constitutes only 3-5% of all osteochondromas; osteochondroma on dorsal aspect of scapula is a rare entity. Diagnosis is almost always clinicoradiologically. Additional computed tomography scan and magnetic resonance imaging may be required for osteochondroma of flat bones such as scapula. Indications for surgery include pain, deformity, dysfunction, neural or vascular compromise, failure of conservative management, or in clinical settings with the high suspicion of malignant transformation and occasionally cosmesis. Outcome of a surgery should be assessed by Patient-Reported Outcome Measures (PROMs) which appraises what "matters to the patient."
CASE REPORT
A 10-year-old boy presented to us with painless swelling over the right upper back since 3 years of age and discomfort over the area while sleeping on his back for 6 months. Diagnosis confirmed it to be a pedunculated osteochondroma arising from the dorsal scapula. Here, we report the diagnosis, treatment, and successful Patient-Reported Outcome using QuickDASH© score for an osteochondroma of dorsal scapula using CARE© case reporting guidelines.
CONCLUSION
We report a rare site of osteochondroma, review the relevant literature, and also stress upon the necessity of analyzing PROMs after surgical treatment of benign tumors of bone which would enable us to evaluate the result of surgery on symptoms, functioning, and health-related quality of life from the patient's perspective.
PubMed: 37521381
DOI: 10.13107/jocr.2023.v13.i07.3772