Diagnosis: Osteosarcoma
• Li-Fraumeni syndrome (caused by an inherited mutant p53 allele) is associated with a greater risk of sarcomas (and other malignancies), in particular, a 500 times greater risk of osteosarcoma.
• In sporadic osteosarcoma, loss of heterozygosity at 17p and TP53 mutation are evident in 30% of osteosarcomas.
• A reciprocal X;18 translocation is characteristic of synovial sarcoma.
• Multiple nonreciprocal translocations and deletions involving various chromosomes and 1p rearrangements were reported in conventional chondrosarcoma.
• A nonrandom translocation 9;22 has been implicated in extraskeletal myxoid chondrosarcoma.
