title: Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  to review clinical relevant aspects of LFS/LFL by our multidisciplinary team with focus on pediatric cancer.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Pediatric Service, Hospital da Criança Santo Antônio, Complexo Hospitalar Santa Casa, Porto Alegre, RS, Brazil.
authors.forename: Cristina Rossi
authors.initials: CR
authors.lastname: Giacomazzi
authors.affiliation: Regional Oncology Center and Hospitalar Epidemiology and Research Core, Hospital Tacchini, Bento Gonçalves, RS, Brazil.
authors.forename: Juliana
authors.initials: J
authors.lastname: Giacomazzi
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Cristina B O
authors.initials: CB
authors.lastname: Netto
authors.affiliation: Oncology Service, HCPA, Porto Alegre, RS, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Santos-Silva
authors.affiliation: Pediatric Oncology Service, HCPA, Porto Alegre, RS, Brazil.
authors.forename: Simone Geiger
authors.initials: SG
authors.lastname: Selistre
authors.affiliation: Endocrinology Service, HCPA, Porto Alegre, RS, Brazil.
authors.forename: Ana Luiza
authors.initials: AL
authors.lastname: Maia
authors.affiliation: Psychology Service, HCPA, Porto Alegre, RS, Brazil.
authors.forename: Viviane Ziebell de
authors.initials: VZ
authors.lastname: Oliveira
authors.affiliation: Department of Statistics, Institute of Mathematics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Suzi Alves
authors.initials: SA
authors.lastname: Camey
authors.affiliation: Bioethics Research Laboratory, HCPA, RS, Brazil.
authors.forename: José Roberto
authors.initials: JR
authors.lastname: Goldim
authors.affiliation: Genetics Department, UFRGS, Porto Alegre, RS, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla
mesh_terms: D000293:Adolescent; D026688:Bioethical Issues; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D055088:Early Detection of Cancer / Q000379:methods / Q000523:psychology; D016158:Genes, p53 / Q000235:genetics; D005817:Genetic Counseling / Q000941:ethics; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000523:psychology; D010375:Pedigree