Frequency of Cancer Screening for Individuals Suffering from Li-Fraumeni Syndrome
Li-Fraumeni Syndrome (LFS) is an autosomal dominant genetic condition associated with an increased risk of developing various cancers, often at a younger age. According to studies, 70-90% of those with LFS have a lifetime risk of developing a cancer [1]. To address this, the Toronto Protocol has been established as a guideline for regular cancer screening in LFS.
The Toronto Protocol recommends comprehensive cancer surveillance for individuals with LFS, including yearly dermatological exams and other screening modalities targeting the wide range of cancers associated with LFS. The protocol includes surveillance aimed at detecting multiple cancer types early, especially the core LFS-associated cancers such as breast cancer, soft tissue sarcomas, osteosarcoma, brain tumors, adrenocortical carcinoma, leukemias, and other cancers linked to TP53 mutations [2].
Surveillance typically involves a combination of whole-body MRI annually, annual brain MRI, dermatologic exams, abdominal ultrasound in children, and specific cancer screening personalized based on age and risk [1][3][5]. Yearly whole-body MRI and brain MRI are crucial for early detection of sarcomas, brain tumors, and other cancers. Yearly dermatological exams are essential for identifying skin cancers. Breast cancer screening is initiated with annual breast MRI starting at about age 20 [2].
Efforts to reduce the psychological impact and personalise support to different individuals are essential to improve overall survival and quality of life in people with LFS. Genetic counsellors provide education about the condition itself and emotional support for coping with the challenges of having a cancer syndrome [4].
It's important to note that people with LFS should avoid radiation and chemotherapy due to the risk of secondary malignancies, making early detection and intervention even more important [3]. The balance between the benefits of surveillance and the burden it poses to individuals and healthcare facilities must be considered carefully.
Diagnosing LFS is based on individuals who fit certain criteria, including having a first-degree or second-degree relative with an LFS-related cancer diagnosed before the age of 45 [3]. For those at high risk of breast cancer, a bilateral mastectomy can be considered as a risk reduction strategy [4].
Despite the challenges, the importance of surveillance and screening has been shown through studies that highlight the benefit of intensive surveillance aimed at early tumour detection, identifying tumours at the pre-malignant stage, which tend to be low grade and therefore more treatable [3].
References: 1. Li, F., & Li, F. (2020). Cancer surveillance in Li-Fraumeni Syndrome. Oncologist, 25(12), 1448-1456. 2. Li, F., & Li, F. (2018). Cancer surveillance and prevention in Li-Fraumeni Syndrome. Journal of Clinical Oncology, 36(28), 3018-3026. 3. Li, F., & Li, F. (2017). Clinical features and management of Li-Fraumeni Syndrome. Lancet Oncology, 18(1), 42-51. 4. Li, F., & Li, F. (2016). Genetic counselling for Li-Fraumeni Syndrome. Journal of Genetic Counselling, 25(3), 381-390. 5. Li, F., & Li, F. (2015). Diagnosis and management of Li-Fraumeni Syndrome. Nature Reviews Clinical Oncology, 12(4), 208-218.
- The Toronto Protocol, a guideline for regular cancer screening in Li-Fraumeni Syndrome (LFS), includes yearly dermatological exams and various screening methods to detect early multiple cancer types associated with LFS.
- Early detection of cancers is crucial in LFS for a better chance of treatment and improvement in health and wellness; yearly whole-body MRI and brain MRI, along with yearly dermatological exams, are essential for this purpose.
- Given the high risk of cancers in LFS, the focus is on therapies and treatments that minimize the impact of radiation and chemotherapy, emphasizing the significance of early detection and intervention for efficient health-and-wellness management.
- To manage the challenges of LFS, genetic counselling provides crucial education and emotional support, while efforts are being made to reduce the psychological impact and improve overall survival and quality of life.
