Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
How do lesions affect limb lengthening in children with Ollier's disease?
BMC Musculoskelet Disord
January 2025
Department of Pediatric Orthopaedics, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Rd, Minhang District, Shanghai, 201102, China.
Purpose: Ollier's disease (multiple enchondromatosis) can cause severe lower limb length discrepancy and deformity in children. Osteotomy and limb lengthening with external fixation can correct the lower extremity deformity. There may be lesions in the osteotomy part (OP), and the internal fixation part of the external fixation(FP).
View Article and Find Full Text PDFSpectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory.
Orphanet J Rare Dis
November 2024
Sorbonne Université, Inserm, CNRS, UMR S 1127, Institut du Cerveau, ICM, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Service de Neuro-oncologie, Paris, France.
Article Synopsis
- The study aims to enhance understanding of tumor development in patients with Ollier disease (OD) and Maffucci syndrome (MS), focusing on IDH-mutated tumors and their origins.
- It proposes that a single IDH-mutant cell could lead to various tumors due to early embryonic mutations and that not all mutated cells will display the IDH mutant characteristics.
- Additionally, it suggests that specific genetic predispositions (SNPs) may increase the likelihood of developing particular tumors in these patients, linking developmental defects to tumor occurrence.
Single cell analysis of Idh mutant growth plates identifies cell populations responsible for longitudinal bone growth and enchondroma formation.
Sci Rep
October 2024
Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC, USA.
Enchondromas are a common tumor in bone that can occur as multiple lesions in enchondromatosis, which is associated with deformity of the affected bone. These lesions harbor somatic mutations in IDH and driving expression of a mutant Idh1 in Col2 expressing cells in mice causes an enchondromatosis phenotype. Here we compared growth plates from E18.
View Article and Find Full Text PDFOsteochondroma versus Chondrosarcoma a Diagnostic Dilemma - a Case Report.
J Orthop Case Rep
October 2024
Department of Orthopaedics, All India Institute of Medical Sciences, Guntur, Andhra Pradesh, India.
Article Synopsis
- * A 17-year-old boy had a long-standing swelling in his thigh, and imaging indicated possible malignant changes, yet the tumor was ultimately found to be benign upon surgical removal and histopathological examination.
- * In cases with unclear diagnoses like this, performing an excisional biopsy is recommended to ensure proper management and monitoring for any future issues or recurrences.
Ollier Disease, Acute Myeloid Leukemia, and Brain Glioma: IDH as the Common Denominator.
Cancers (Basel)
September 2024
Department of Neurosciences, Division of Neurosurgery, Policlinico "G. Rodolico-S. Marco", University Hospital, 95123 Catania, Italy.
Article Synopsis
- - The study explores the connection between Ollier disease (OD), acute myeloid leukemia (AML), and brain glioma (BG), which are distinct types of tumors but can occur in the same patient, and aims to find shared molecular pathways for potential treatment.
- - A systematic literature review was conducted, revealing that thirty-three patients with both OD and BG were identified in previous studies, and only one documented case linked OD with AML—our case included all three diseases.
- - The IDH R132H mutation was identified as a common genetic alteration in all three types of tumors, suggesting that targeted therapies using IDH1 inhibitors could provide new treatment options, although further research with larger groups is needed to validate these findings.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!