Abstract
Li-Fraumeni syndrome is an autosomal dominant disorder characterized by germline TP53 mutation and increased susceptibility to cancer. Despite certain in vitro findings and a theoretical rationale for patients with TP53 mutation to be more radiosensitive and more prone to developing radiotherapy (rt)-induced secondary malignancies, corresponding clinical data remain elusive. Here, we report the case of a woman with TP53 mutation who was treated with adjuvant pelvic rt for stage ib uterine leiomyosarcoma in 2000, with radioactive iodine for papillary thyroid cancer in 2001, and with palliative rt to the humerus in 2010 for metastatic uterine leiomyosarcoma. She has not developed any acute or late rt-related toxicity, nor any secondary malignancies, since her first rt treatment. The literature review describes the potential risks and benefits of using irradiation in patients with TP53 mutation.
Highlights
Described in 1969, Li–Fraumeni syndrome is a rare syndrome (1 case in 5000–20,000 population)[1] associated with the development of multiple cancers[2]
Patients with lfs are at high risk for developing cancers at an earlier age, such that 50% of lfs-related cancers develop by age 301. These patients are prone to develop cancers[4], published experiences on the use of radiotherapy in the treatment of cancers in this patient population are scarce because of concerns that normal cells with mutated TP53 are more sensitive to rt than are cells without TP53 mutations and that rt will induce new primary cancers in these patients
Because of reservations connected to the administration of rt to patients known for germline TP53 mutations, clinical data describing the acute and chronic side effects of rt in this population are limited
Summary
Described in 1969, Li–Fraumeni syndrome (lfs) is a rare syndrome (1 case in 5000–20,000 population)[1] associated with the development of multiple cancers (mainly breast cancer, sarcoma, brain cancer, leukemia, and adrenocortical cancers)[2]. Because lfs is an autosomal dominant disorder, children of a patient with lfs have a 50% chance of inheriting the syndrome[2], and the penetrance is 90% by age 603. Patients with lfs are at high risk for developing cancers at an earlier age, such that 50% of lfs-related cancers develop by age 301. These patients are prone to develop cancers[4], published experiences on the use of radiotherapy (rt) in the treatment of cancers in this patient population are scarce because of concerns that normal cells with mutated TP53 are more sensitive to rt than are cells without TP53 mutations and that rt will induce new primary cancers in these (often young) patients
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