Stamcel transplantatie bij Li-Fraumeni een goed idee?
TP53 Testing and Li-Fraumeni Syndrome: Current Status of Clinical Applications and Future Directions
Prevalent as an acquired abnormality in cancer, the role of TP53 as a germline mutation continues to evolve. The clinical impact of a germline TP53 mutation is often dramatic and affects the full life course, with a propensity to develop rare tumors in childhood and multiple common cancers of unexpectedly early onset in adulthood. We review the clinical relevance of germline mutations in the TP53 tumor suppressor gene in current healthcare practices, including the optimal ways to identify patients with Li-Fraumeni syndrome (LFS), to recognize the core-cancers associated with LFS and to develop strategies for early detection of LFS-associated tumors. Several TP53-targeted approaches to improve outcomes in LFS patients are also reviewed. A case report was used to highlight special TP53 testing dilemmas and unique challenges associated with genetic testing decisions in our current age of rapidly advancing genomic technologies.
Li-Fraumeni syndrome (LFS; OMIM 151623) is an autosomal dominant cancer syndrome caused by heterozygous germline mutations in the TP53 gene. Half of patients with LFS develop at least one LFS-associated cancer by age 30.