title: [Trilateral retinoblastoma. Correlation between the genetic anomalies of the RB1 gene and the presence of pineal gland cysts].
abstract: OBJECTIVE
  To determine the correlation between the presence of genetic anomalies identified in the RB1 gene and the development of trilateral retinoblastoma.
  
  
  METHODS
  No patients with primitive neuroectodermal tumour (PNET) were identified out of a total of 206 patients, but there were 17 cases of pineal cysts, of which 11 had a genetic study.
  
  
  RESULTS
  Of the 11 patients who had a genetic study performed, the anomaly in the germinal line was identified in 8 cases, which was equivalent to 100% of the bilateral retinoblastomas, and 25% of the unilateral ones. It is more common to find a germinal mutation in patients with bilateral disease (P=.024). There are no significant differences in the type of anomaly identified, although the nonsense-frameshift type is more frequent in cases with bilateral involvement. Identification of the genetic anomaly is more frequent in patients who have pineal cysts (Fisher test; P=.490). Nine of the 17 patients received systemic chemotherapy (52.29% of the cases), which could be able to prevent the development of PNET. Although a certain trend was observed in all the mentioned parameters, there was a relationship between, the presence of pineal cysts and bilateral disease (Pearson Chi X2: P=.191), a known family history (Fisher test; P=.114) and age of early diagnosis (Fisher test; P=.114). There were no significant differences in the mutation type identified.
  
  
  CONCLUSIONS
  Considering pineal cysts as a pre-malignant form of pinealoblastoma, we found a relationship between the germinal line mutation of the RB1 gene and the cases with bilateral or unilateral retinoblastoma.
authors.affiliation: Hospital Manises, Valencia, España. Electronic address: noeruizdelrio@yahoo.es.
authors.forename: N
authors.initials: N
authors.lastname: Ruiz Del Río
authors.affiliation: Hospital Universitario La Paz, Madrid, España.
authors.forename: J M
authors.initials: JM
authors.lastname: Abelairas Gómez
authors.affiliation: Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, España.
authors.forename: F J
authors.initials: FJ
authors.lastname: Alonso García de la Rosa
authors.affiliation: Hospital Universitario La Paz, Madrid, España.
authors.forename: J M
authors.initials: JM
authors.lastname: Peralta Calvo
authors.affiliation: Hospital La Mancha Centro, Ciudad Real, España.
authors.forename: A
authors.initials: A
authors.lastname: de Las Heras Martín
mesh_terms: D000236:Adenoma / Q000453:epidemiology / Q000235:genetics; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001139:Arnold-Chiari Malformation / Q000235:genetics; D001932:Brain Neoplasms / Q000235:genetics / Q000517:prevention & control; D020785:Central Nervous System Vascular Malformations / Q000235:genetics; D003560:Cysts / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D016368:Frameshift Mutation; D016161:Genes, Retinoblastoma; D018095:Germ-Line Mutation; D006801:Humans; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D018242:Neuroectodermal Tumors, Primitive / Q000235:genetics / Q000517:prevention & control; D010870:Pineal Gland / Q000473:pathology*; D010871:Pinealoma / Q000235:genetics / Q000517:prevention & control; D010911:Pituitary Neoplasms / Q000235:genetics; D011230:Precancerous Conditions / Q000235:genetics / Q000473:pathology; D019572:Retinal Neoplasms / Q000235:genetics*; D012175:Retinoblastoma / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D000970:Antineoplastic Agents
keywords: Chemotherapy; Gen RB1; Genetic; Genética; Quimioterapia; RB1 gene; Retinoblastoma; Trilateral