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Bone dysplasias, including Paget's disease of bone, fibrous dysplasia, enchondromatosis, and hereditary multiple exostoses, increase the risk of osteosarcoma. Li–Fraumeni syndrome (germline TP53 mutation) is a predisposing factor for osteosarcoma development.
Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is also known as progressive diaphyseal dysplasia. It is a form of dysplasia. [3] Patients typically have heavily thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia).
Although cancer syndromes exhibit an increased risk of cancer, the risk varies. For some of these diseases, cancer is not the primary feature and is a rare consequence. Many of the cancer syndrome cases are caused by mutations in tumor suppressor genes that regulate cell growth.
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified ...
Ewing sarcoma is a type of pediatric cancer [5] that forms in bone or soft tissue. [1] Symptoms may include swelling and pain at the site of the tumor, fever , and a bone fracture . [ 2 ] The most common areas where it begins are the legs, pelvis , and chest wall. [ 4 ]
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
A bone growth factor is a growth factor that stimulates the growth of bone tissue. [1] [2]Known bone growth factors include insulin-like growth factor-1 (IGF-1), insulin-like growth factor-2 (IGF-2), transforming growth factor beta (TGF-β), fibroblast growth factors (FGFs), platelet-derived growth factor (PDGF), parathyroid hormone-related peptide (PTHrP), bone morphogenetic proteins (BMPs ...
Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign cartilaginous tumors (enchondromas) develop near the growth plate cartilage. This is caused by cartilage rests that grow and reside within the metaphysis or diaphysis and eventually mineralize over time to form multiple enchondromas. [ 1 ]