Li-Fraumeni Syndrome (TP53)


Clinical Features

Li-Fraumeni Syndrome is a hereditary cancer syndrome that predisposes individuals to multiple neoplasms at an early age. The most common neoplasms associated with LFS are bone and soft-tissue sarcomas, adrenocortical carcinomas, pre-menopausal breast cancers, and brain tumors. Although much less common, melanomas, germ cell tumors, gastric carcinomas and Wilms tumors have also been described in LFS patients (Varley et al., Cancer Research.1997; 57: 3245-3252). The average age of malignancy for individuals with LFS is typically between 20 and 45, which is at least 2-3 decades sooner than reported for the general population (Nichols et al., Cancer Epidemiol Biomarkers Prevention. 2001; 10: 83-87).

Prevention

LFS was first described in 1969 and since then early diagnosis and treatment has proven to both improve the quality of life of affected individuals, as well as drastically reduce mortality (Villani et al., The Lancet Oncology. 2011; 12(6) 559-567).

Screening and Early Diagnosis

Since earlier staged cancer may be less aggressive, cancer that is detected early generally allows patients to live longer, require less extensive treatment, and fare better (Jotwani and Gralow, Molecular Diagnosis and Therapy. 2009; 13(6): 349-357). Studies estimate that 3-35% of premature deaths could have been avoided by early cancer screening and detection (National Cancer Institute; cancer.gov). A patient with LFS should take several precautions to monitor and screen for cancer so an early diagnosis can be made. These precautions include: routine oncologic management, visiting a physician for any lingering symptoms and illnesses, organ targeted surveillance, annual breast MRI, and annual colonoscopies. If breast cancer is diagnosed patients often undergo a mastectomy instead of a lumpectomy to prevent secondary forms of breast cancer from occurring and to help avoid the need for radiation therapy (Schneider et al., GeneReviews. 1999; ncbi.nlm.nih.gov/books/NBK1311).

Radiation Avoidance

Studies have shown an abnormal sensitivity to radiation for those with LFS as well as an increased malignant tumor count in those exposed (Schneider et al., GeneReviews. 1999; ncbi.nlm.nih.gov/books/NBK1311). Extensive precautions should be enacted to avoid all types of radiation therapy used on diagnosed LFS patients (Limacher et al., Oncology and Radiotherapy. 2001; 96(4): 238-242).

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Disclaimer

This article is a summary of information that has been reported in the biomedical research literature. It is not medical advice for patients. All disease treatments should be under the direction of a qualified healthcare provider.