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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The inheritance of multiple exostoses follows a classical autosomal dominant pattern, although some individuals have only a few lesions that may not be symptomatic. It may form part of the Langer-Giedion syndrome (microdeletion of chromosome 8q), with mental retardation and features of trichorhinophalangeal dysplasia. Specific genes on chromosomes 8 and 11 have now been isolated. By contrast, enchondromatosis (Ollier disease) is rarely transmitted to children. When accompanied by haemangiomas, it is termed Maffucci syndrome. There is a risk of sarcomatous malignant change in the enchondromata.
Musculoskeletal tumours
Published in Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie, Bailey & Love's Short Practice of Surgery, 2018
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie
Ollier disease is a developmental condition characterised by multiple enchondromas. In Maffucci syndrome, multiple enchondromas are associated with multiple angiomas. Malignant transformation to chondrosarcoma can occur in approximately 20% of patients with Ollier disease and is almost inevitable in patients with Maffucci syndrome.
O
Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Ollier Disease (Syn: multiple enchondromatosis, dyschon-droplasia) Consists of nonossified cartilage of the metaphysis and diaphyses of the long bones. Described by French surgeon, Léopold Louis Xavier Edouard Ollier (1830–1901), in 1899. The inner osteogenetic layer of the periostium (Ollier layer) was described by him in 1859.
Further understanding of glioma mechanisms of pathogenesis: implications for therapeutic development
Published in Expert Review of Anticancer Therapy, 2020
Michael Ruff, Sani Kizilbash, Jan Buckner
In cells harboring IDH mutation there are blanket genome-wide effects, the best described and most relevant of which is an inhibitory effect on multiple enzymes within the cell including the Ten-eleven translocation (TET) class of DNA demethylases [32]. Simplistically, global inhibition of DNA demethylases results in a net increase in DNA methylation including methylation of CpG islands. The methylation of CpG islands (referred to as the G-CIMP phenotype) interferes with the tertiary structure of DNA by interrupting the binding site for CTCF. CTCF is an insulator protein and transcription factor that binds to thousands of sites across the genome, where it interacts with transcription factors involved in the maintenance of chromatin loops. The insulator function of CTCF holds the DNA in a specific spatial orientation, forming chromatin loops, and spatially separating genes and transcriptional regulatory elements. Interference with CTCF binding disrupts the formation of chromatin loops and therefore disrupts the physical segregation of DNA, bringing together disparate genetic elements in close physical proximity to influence one another. This is a newly discovered mechanism of oncogenesis, elucidated in glioma and, presumably identical in other IDH mutation-associated malignancies (chondrosarcoma, cholangiocarcinoma, Acute Myeloid Leukemia, and Ollier disease/Maffucci syndrome). In cases other than glioma, it is associated with a worse prognosis [32].
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Published in Pediatric Hematology and Oncology, 2020
Anand Srinivasan, Yaolin Zhou, Teresa Scordino, Sandeep Prabhu, Andrea Wierenga, Garfield Simon, Klaas J. Wierenga, Joel Thompson, Rikin Shah, Arpan A. Sinha
In addition, mutations in IDH1 and IDH2 are implicated in skeletal enchondromatosis.2,3 Ollier disease (multiple enchondromas) and Maffucci syndrome (multiple enchondromas combined with hemangiomas) are non-hereditary disorders associated with somatic mosaic mutations in IDH genes. Malignant transformation of enchondromas to chondrosarcomas and other cancers such as brain tumors and AML have also been reported in patients with these conditions.4
Malignant transformation of a phalangeal enchondroma into a recurrent grade II chondrosarcoma requiring successive transcarpal amputations: a case report
Published in Case Reports in Plastic Surgery and Hand Surgery, 2022
Ceyran Hamoudi, Benjamin Bouillet, Antoine Martins
Recurrence of enchondromas is uncommon, and malignant transformation of a benign enchondroma or multiple enchondromatosis to secondary chondrosarcomas in the hand is extremely rare [6]. Some conditions, such as Ollier disease or Maffucci syndrome, characterized by multiple enchondromas, are associated with a high malignant transformation rate, varying from 20% to 57% [10]. Nevertheless, in our case, a malignant transformation of an enchondroma to a grade II chondrosarcoma was observed.