Enchondromatosis and Growth Plate Development.

Published in: Current osteoporosis reports (2020)

Several signaling pathways that regulate chondrocyte differentiation are dysregulated in enchondromas. Somatic mutations in the metabolic enzymes isocitrate dehydrogenase 1 and 2 (IDH1/2) are the most common findings in enchondromas. Mechanisms including metabolic regulation, epigenetic regulation, and altered signaling pathways play a role in enchondroma formation and progression. Multiple pathways regulate growth plate development in a coordinated manner. Deregulation of the process can result in chondrocytes failing to undergo differentiation and the development of enchondroma.

Keyphrases

signaling pathway
gene expression
epithelial mesenchymal transition
pi k akt
low grade
oxidative stress
copy number