About Enchondromatosis
Enchondromatosis, or Ollier disease, is a non-heritable skeletal disorder characterised by multiple benign cartilaginous tumours (enchondromas) arising within medullary bone, caused in the majority of cases by somatic mosaic gain-of-function mutations in IDH1 or IDH2. The lesions predominantly affect the hands, feet, and long bones, causing progressive skeletal deformity, limb length discrepancy, and pathological fractures, with unilateral or asymmetric distribution typical of the mosaic mutational origin. The most critical long-term risk is malignant transformation of enchondromas to chondrosarcoma, estimated at 25–30% lifetime risk, which requires lifelong surveillance imaging.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Enchondromatosis trials.
MRI or CT imaging of all known enchondroma sites with comparison to prior imaging is required at baseline screening to document lesion size, number, and any features suspicious for malignant transformation.
IDH1/IDH2 somatic mutation testing on tumour tissue or affected bone (not blood) is preferred; negative blood results do not exclude diagnosis — clarify the source of molecular testing with the laboratory.
Prior history of chondrosarcoma or current imaging features suspicious for malignancy are typically exclusion criteria for non-oncology trials; ensure full surgical and oncological history is available.
Patient Resources
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