Active hedgehog signaling is reported to be important for enchondroma development and PTH1R mutations have been identified in approximately 10% of Ollier patients.
In agreement, a functionally deleterious mutation in PTHR1 (p.R150C) was identified in enchondromas from two of six unrelated patients with enchondromatosis.
Therefore, we investigated PTHR1 in enchondromas and chondrosarcomas from 31 enchondromatosis patients from three different European countries, thereby excluding a population bias.