ArticleHereditary cancer in clinical practice2004
Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.
Article in Hereditary cancer in clinical practice, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 88 citations in OpenAlex.
- Palovarotene for patients with multiple hereditary exostosis: results of MO-Ped, a terminated, randomized, placebo-controlled, double-blind phase 2 trial.Scientific reports · 2025Trial
- Assessment of radiological and clinical follow-up strategies for intrathoracic osteochondromas in hereditary multiple osteochondromas patients.Joint diseases and related surgery · 2026Article
- Current concepts in the management of proximal femoral osteochondromas: a narrative review.Journal of orthopaedic surgery and research · 2025Review
- Haemothorax as an Unusual Presentation of Osteochondroma:Sultan Qaboos University medical journal · 2025Review
- Challenges and Solutions in Managing Recurrent Distal Tibia Interosseous Osteochondroma: A Case Study and Review of Literature.Journal of orthopaedic case reports · 2024Article
- Is total-body MRI useful as a screening tool to rule out malignant progression in patients with multiple osteochondromas? Results in a single-center cohort of 319 adult patients.Skeletal radiology · 2024Article
- Article
- Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier.Molecular genetics and genomics : MGG · 2022Article
- Osteochondroma Pathogenesis: Mouse Models and Mechanistic Insights into Interactions with Retinoid Signaling.The American journal of pathology · 2021Review
- The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice.American journal of medical genetics. Part A · 2021Article
- Persistent Atraumatic Knee Pain in a Teenage Female with Bony Protuberance Secondary to Hook-Shaped Osteochrondroma.Case reports in pediatrics · 2021Article
- Whole-body MRI in assessing malignant transformation in multiple hereditary exostoses and enchondromatosis: audit results and literature review.Skeletal radiology · 2020Review
- Histopathological features of condylar hyperplasia and condylar Osteochondroma: a comparison study.Orphanet journal of rare diseases · 2019Article
- Osteochondroma of acromioclavicular joint.BMJ case reports · 2019Article
- Knee locked in flexion: incarcerated semitendinosus tendon around a proximal tibial osteochondroma.Journal of surgical case reports · 2019Article
- Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature.Medicine · 2017Article
- Bilateral Scapulothoracic Osteochondromas in a Patient With Hereditary Multiple Exostosis: A Case Report and Review of the Literature.Orthopedic reviews · 2016Article
- Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle.Molecular and clinical oncology · 2016Article
- Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.International journal of surgery case reports · 2016Article
- Ankle pain in hereditary multiple exostoses: a case report.Rheumatology international · 2015Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.