Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma – a case report

ConclusionGenetic examination of the tumour evidenced several copy number alterations with striking differences to previously reported data. We discuss possible influences of the genetic profile on the unusual clinical course and the significance of Li-Fraumeni syndrome for the genetic profile. Specific loss of (proto-) oncogenes might have contributed to the unusual case. Further large-scale genetics of Li-Fraumeni patients combined with detailed clinical data will help to identify specific genetic risk profiles and improve treatment.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research