Table 3 Summary of key bone tumour conditions and emerging therapies
From: The evolving therapeutic landscape of genetic skeletal disorders
| Â | HME | MC | Ollier | Maffucci |
|---|---|---|---|---|
Incidence | Relatively common (1 in 50,000) | Rare (< 100 cases reported) | 1/100,000 (commonest enchondromatosis subtype) [99] | Rare (160 reported cases) |
Inheritance | AD | AD | Sporadic / Somatic | Sporadic / Somatic |
Genes | EXT1 and EXT2 | PTPN11 | IDH1 and 2, PTHR1 | IDH1 and 2 |
Lesions | Osteochondromas (OCs) | Osteochondromas and enchondromas | Enchondromas | Enchondromas + vascular malformations |
Key History | Lesions plateau in growth at puberty but do not regress. Lesions do not arise in adulthood. OCs form at long bone ends (forearm, femur) and on flat bones (hips, shoulders, blade or ribs) | Lesions resolve with time (by adulthood often) Lesions usually in hands and feet Enchondromas tend to arise from the metaphyses (so can grow into the diaphysis or growth plate), whereas OCs arise next to the growth plate and grow away from it. | Starts in 1st decade of life Enchondromas as described in MC. Tend to be one sided or localise to one area, especially hands over feet. Bones deform more severely than in HME/MC. | Like Olliers but also get venous malformations (VMs, often presenting as soft blue subcutaneous nodules that empty with pressue) and less commonly haemangiomas or lymphangiomas or phleboliths. Starts in1st decade of life, usually between age 4-5 years. |
Gender | Males more severely affected. | Tends to affects males | Tends to affects females | Equally affects males and females |
Malignancy risk | 4% [100] (2–5%) | < 1% | 25% (5–50%) Skeletal, brain, visceral, ovarian | 30% (25–40%) [101] Skeletal and vascular |
Trials | Phase 2 retinoic acid like treatment | – | – | Rapamycin for spindle cell VM (case report) but failed for haemangiomas (case report) [102, 103] |