title: Retinoblastoma in a pediatric oncology reference center in Southern Brazil.
abstract: BACKGROUND
  Retinoblastoma (Rb) is the most common intraocular tumor diagnosed in children in Brazil. However, detailed information is lacking regarding patient clinical demographics. This study aimed to determine the clinical profile of patients with Rb who were treated in a public university hospital in southern Brazil from 1983 to 2012.
  
  
  METHODS
  Patients' medical records were reviewed to retrospectively identify patients with a principal diagnosis of Rb. Rb was classified as hereditary or non-hereditary. Clinical staging was reviewed by an ophthalmologist. Statistical analysis was performed using SPSS.
  
  
  RESULTS
  Of 165 patients with a diagnosis of Rb during this period, 140 were included in the study. Disease was unilateral in 65.0 % of patients, bilateral in 32.9 %, and trilateral in 2.1 %. The mean age at onset of the first sign/symptom was 18.1 month, and 35.7 % of patients were diagnosed during the first year of life. The most common presenting signs were leukocoria (73.6 %) and strabismus (20.7 %). The mean age at diagnosis was 23.5 months, and time to diagnosis was 5.4 months. In patients with clinical features of hereditary Rb, both onset of the first sign/symptom and diagnosis were at an earlier age than in patients without these features (12.3 vs 21.6 months [P = 0.001] and 15.9 vs 28.0 months [P < 0.001], respectively). However, there was no significant difference in overall survival between the two groups. Ocular stage at diagnosis was advanced in 76.5 % (Reese V) and 78.1 % (International Classification D or E). Of patients with unilateral and bilateral disease, 35.2 % and 34.8 %, respectively, had extraocular disease at diagnosis; 10.7 % had metastatic disease at diagnosis. Enucleation was observed in 88.1 % and exenteration in 11.9 % of patients; 93.6 % patients were followed until 2012, and 22.9 % relapsed. Overall survival was 86.4 %.
  
  
  CONCLUSIONS
  Most Rb diagnoses are still diagnosed in advanced stages of the disease, considerably reducing overall survival time and the rate of eye and vision preservation.
authors.affiliation: Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil. simoneselistre@gmail.com.|Pediatric Oncology Service, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Brazil. simoneselistre@gmail.com.
authors.forename: Simone G A
authors.initials: SGA
authors.lastname: Selistre
authors.affiliation: Ophthalmology Service, HCPA, Porto Alegre, Brazil.
authors.forename: Marcelo K
authors.initials: MK
authors.lastname: Maestri
authors.affiliation: Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.|Genomic Medicine Laboratory, Experimental Research Center, HCPA, Porto Alegre, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Santos-Silva
authors.affiliation: Post-Graduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.|Genetics Department, Biosciences Institute, UFRGS, Porto Alegre, Brazil.|Instituto de Genética Médica Populacional (INAGEMP), Porto Alegre, Brazil.|Medical Genetics Service, HCPA, Porto Alegre, Brazil.
authors.forename: Lavinia
authors.initials: L
authors.lastname: Schüler-Faccini
authors.affiliation: Statistics and Epidemiology, UFRGS, Porto Alegre, Brazil.|Statistics and Epidemiology, HCPA, Porto Alegre, Brazil.
authors.forename: Luis S P
authors.initials: LSP
authors.lastname: Guimarães
authors.affiliation: Genomic Medicine Laboratory, Experimental Research Center, HCPA, Porto Alegre, Brazil.|Genetics Department, Biosciences Institute, UFRGS, Porto Alegre, Brazil.|Hospital Tacchini, Bento Gonçalves, Brazil.
authors.forename: Juliana
authors.initials: J
authors.lastname: Giacomazzi
authors.affiliation: Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.|Pediatric Oncology Service, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
authors.forename: Mario C
authors.initials: MC
authors.lastname: Evangelista Júnior
authors.affiliation: Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.|Genomic Medicine Laboratory, Experimental Research Center, HCPA, Porto Alegre, Brazil.|Post-Graduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.|Genetics Department, Biosciences Institute, UFRGS, Porto Alegre, Brazil.|Instituto de Genética Médica Populacional (INAGEMP), Porto Alegre, Brazil.|Medical Genetics Service, HCPA, Porto Alegre, Brazil.|Statistics and Epidemiology, UFRGS, Porto Alegre, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla
mesh_terms: D001938:Brazil / Q000453:epidemiology; D002675:Child, Preschool; D055088:Early Detection of Cancer / Q000706:statistics & numerical data; D015353:Eye Enucleation; D005260:Female; D005500:Follow-Up Studies; D006785:Hospitals, University; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009367:Neoplasm Staging; D011379:Prognosis; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000401:mortality / Q000601:surgery; D012175:Retinoblastoma / Q000175:diagnosis* / Q000401:mortality / Q000601:surgery; D012189:Retrospective Studies; D062606:Tertiary Care Centers; D016896:Treatment Outcome
keywords: Hereditary retinoblastoma; Intraocular malignancies; Malignant tumors of the retina; Pediatric tumors; Retinoblastoma