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Rev Assoc Med Bras (1992). 2015 May-Jun;61(3):282-9. doi: 10.1590/1806-9282.61.03.282.

Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician.

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Pediatric Service, Hospital da Criança Santo Antônio, Complexo Hospitalar Santa Casa, Porto Alegre, RS, Brazil.
Regional Oncology Center and Hospitalar Epidemiology and Research Core, Hospital Tacchini, Bento Gonçalves, RS, Brazil.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Oncology Service, HCPA, Porto Alegre, RS, Brazil.
Pediatric Oncology Service, HCPA, Porto Alegre, RS, Brazil.
Endocrinology Service, HCPA, Porto Alegre, RS, Brazil.
Psychology Service, HCPA, Porto Alegre, RS, Brazil.
Department of Statistics, Institute of Mathematics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Bioethics Research Laboratory, HCPA, RS, Brazil.
Genetics Department, UFRGS, Porto Alegre, RS, Brazil.



cancer is the second leading cause of death in children between the ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed in Brazil. A significant percentage (5-10%) of pediatric cancers are associated with hereditary cancer syndromes, including Li-Fraumeni/Li-Fraumeni-like syndromes (LFS/LFL), both of which are caused by TP53 germline mutations. Recent studies have shown that a specific TP53 mutation, known as p.R337H, is present in 1 in 300 newborns in Southern and Southeast Brazil. In addition, a significant percentage of children with LFS/LFL spectrum tumors in the region have a family history compatible with LFS/LFL.


to review clinical relevant aspects of LFS/LFL by our multidisciplinary team with focus on pediatric cancer.


the NCBI (PubMed) and SciELO databases were consulted using the keywords Li-Fraumeni syndrome, Li-Fraumeni-like syndrome and pediatric cancer; and all manuscripts published between 1990 and 2014 using these keywords were retrieved and reviewed.


although LFS/LFL is considered a rare disease, it appears to be substantially more common in certain geographic regions. Recognition of population- specific risks for the syndrome is important for adequate management of hereditary cancer patients and families. In Southern and Southeastern Brazil, LFS/ LFL should be considered in the differential diagnosis of children with cancer, especially if within the spectrum of the syndrome. Due to the complexities of these syndromes, a multidisciplinary approach should be sought for the counseling, diagnosis and management of patients and families affected by these disorders. Pediatricians and pediatric oncologists in areas with high prevalence of hereditary cancer syndromes have a central role in the recognition and proper referral of patients and families to genetic cancer risk evaluation and management programs.

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