Genetic tumour syndromes of soft tissue and bone are a group of genetic disorders and disease syndromes associated with neoplasms that display different features than their sporadic counterparts. These genetic syndromes have been classified separately by the World Health Organisation (WHO) and comprise the following entities 1:
- enchondromatosis (Ollier disease and Maffucci syndrome)
- Li-Fraumeni syndrome
- McCune-Albright syndrome
- multiple osteochondromas
- Neurofibromatosis type 1
- Rothmund-Thomson syndrome
- Werner syndrome
- Beckwith-Wiedemann syndrome
- cherubism
- retinoblastoma syndrome
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