PMID- 24269417
OWN - NLM
STAT- MEDLINE
DCOM- 20150413
LR  - 20220309
IS  - 1989-7286 (Electronic)
IS  - 0365-6691 (Linking)
VI  - 89
IP  - 1
DP  - 2014 Jan
TI  - [Trilateral retinoblastoma. Correlation between the genetic anomalies of the RB1 
      gene and the presence of pineal gland cysts].
PG  - 4-9
LID - S0365-6691(13)00282-7 [pii]
LID - 10.1016/j.oftal.2013.07.006 [doi]
AB  - OBJETIVE: To determine the correlation between the presence of genetic anomalies 
      identified in the RB1 gene and the development of trilateral retinoblastoma. 
      METHOD: 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.
CI  - Copyright (c) 2010 Sociedad Espanola de Oftalmologia. Published by Elsevier Espana. 
      All rights reserved.
FAU - Ruiz Del Rio, N
AU  - Ruiz Del Rio N
AD  - Hospital Manises, Valencia, Espana. Electronic address: noeruizdelrio@yahoo.es.
FAU - Abelairas Gomez, J M
AU  - Abelairas Gomez JM
AD  - Hospital Universitario La Paz, Madrid, Espana.
FAU - Alonso Garcia de la Rosa, F J
AU  - Alonso Garcia de la Rosa FJ
AD  - Instituto de Investigaciones Biomedicas Alberto Sols, Madrid, Espana.
FAU - Peralta Calvo, J M
AU  - Peralta Calvo JM
AD  - Hospital Universitario La Paz, Madrid, Espana.
FAU - de Las Heras Martin, A
AU  - de Las Heras Martin A
AD  - Hospital La Mancha Centro, Ciudad Real, Espana.
LA  - spa
PT  - Comparative Study
PT  - English Abstract
PT  - Journal Article
PT  - Observational Study
TT  - Retinoblastoma trilateral. Correlacion de las alteraciones geneticas del gen RB1 
      y la presencia de quistes de la glandula pineal.
DEP - 20131005
PL  - Spain
TA  - Arch Soc Esp Oftalmol
JT  - Archivos de la Sociedad Espanola de Oftalmologia
JID - 1304603
RN  - 0 (Antineoplastic Agents)
SB  - IM
MH  - Adenoma/epidemiology/genetics
MH  - Antineoplastic Agents/therapeutic use
MH  - Arnold-Chiari Malformation/genetics
MH  - Brain Neoplasms/genetics/prevention & control
MH  - Central Nervous System Vascular Malformations/genetics
MH  - Cysts/epidemiology/*genetics/pathology
MH  - Frameshift Mutation
MH  - *Genes, Retinoblastoma
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Neoplasms, Multiple Primary/*genetics/pathology
MH  - Neuroectodermal Tumors, Primitive/genetics/prevention & control
MH  - Pineal Gland/*pathology
MH  - Pinealoma/genetics/prevention & control
MH  - Pituitary Neoplasms/genetics
MH  - Precancerous Conditions/genetics/pathology
MH  - Retinal Neoplasms/*genetics
MH  - Retinoblastoma/*genetics
MH  - Retrospective Studies
OTO - NOTNLM
OT  - Chemotherapy
OT  - Gen RB1
OT  - Genetic
OT  - Genetica
OT  - Quimioterapia
OT  - RB1 gene
OT  - Retinoblastoma
OT  - Trilateral
EDAT- 2013/11/26 06:00
MHDA- 2015/04/14 06:00
CRDT- 2013/11/26 06:00
PHST- 2010/07/12 00:00 [received]
PHST- 2013/02/01 00:00 [revised]
PHST- 2013/07/02 00:00 [accepted]
PHST- 2013/11/26 06:00 [entrez]
PHST- 2013/11/26 06:00 [pubmed]
PHST- 2015/04/14 06:00 [medline]
AID - S0365-6691(13)00282-7 [pii]
AID - 10.1016/j.oftal.2013.07.006 [doi]
PST - ppublish
SO  - Arch Soc Esp Oftalmol. 2014 Jan;89(1):4-9. doi: 10.1016/j.oftal.2013.07.006. Epub 
      2013 Oct 5.