PMID- 24412019
OWN - NLM
STAT- MEDLINE
DCOM- 20140609
LR  - 20140127
IS  - 2210-7762 (Print)
VI  - 206
IP  - 11
DP  - 2013 Nov
TI  - Two novel cases of trilateral retinoblastoma: genetics and review of the 
      literature.
PG  - 398-401
LID - S2210-7762(13)00156-7 [pii]
LID - 10.1016/j.cancergen.2013.11.001 [doi]
AB  - Retinoblastoma (RB) is the most common eye tumor in children; it originates from 
      germline and/or somatic mutations that inactivate both alleles of the RB1 gene 
      located on chromosome 13q14. Patients with unilateral or bilateral RB 
      infrequently may develop an additional intracranial neuroblastic tumor, usually 
      in the pineal gland, which characterizes the trilateral retinoblastoma (TRB) 
      syndrome. The most common chromosomal abnormalities detected in TRB are deletions 
      at 13q14, even if some rare cases of RB1 point mutations were described. In our 
      report, we investigated two patients with TRB who showed a germline RB1 point 
      mutation that has never been found to date and a large deletion involving RB1, 
      respectively. Genetic data were compared to our in-house series and to current 
      literature; these data suggested a role for other candidate regions in the 
      pathogenesis of TRB. Moreover, our study highlights the need for new approaches 
      allowing a multigenic analysis to clarify the genotype-phenotype correlation in 
      TRB.
CI  - Copyright (c) 2013 Elsevier Inc. All rights reserved.
FAU - D'Elia, Gemma
AU  - D'Elia G
AD  - Cytogenetics and Molecular Genetics Unit, Bambino Gesu Children's Hospital, Rome, 
      Italy.
FAU - Grotta, Simona
AU  - Grotta S
AD  - Cytogenetics and Molecular Genetics Unit, Bambino Gesu Children's Hospital, Rome, 
      Italy. Electronic address: simona.grotta@opbg.net.
FAU - Del Bufalo, Francesca
AU  - Del Bufalo F
AD  - Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, 
      Bambino Gesu Children's Hospital, Rome, Italy.
FAU - De Ioris, Maria Antonietta
AU  - De Ioris MA
AD  - Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, 
      Bambino Gesu Children's Hospital, Rome, Italy.
FAU - Surace, Cecilia
AU  - Surace C
AD  - Cytogenetics and Molecular Genetics Unit, Bambino Gesu Children's Hospital, Rome, 
      Italy.
FAU - Sirleto, Pietro
AU  - Sirleto P
AD  - Cytogenetics and Molecular Genetics Unit, Bambino Gesu Children's Hospital, Rome, 
      Italy.
FAU - Romanzo, Antonino
AU  - Romanzo A
AD  - Ophthalmology Unit, Bambino Gesu Children's Hospital, Rome, Italy.
FAU - Cozza, Raffaele
AU  - Cozza R
AD  - Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, 
      Bambino Gesu Children's Hospital, Rome, Italy.
FAU - Locatelli, Franco
AU  - Locatelli F
AD  - Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, 
      Bambino Gesu Children's Hospital, Rome, Italy.
FAU - Angioni, Adriano
AU  - Angioni A
AD  - Cytogenetics and Molecular Genetics Unit, Bambino Gesu Children's Hospital, Rome, 
      Italy.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20131119
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Cytogenetics
MH  - Female
MH  - Genetic Association Studies
MH  - Humans
MH  - Infant
MH  - Male
MH  - Nucleic Acid Hybridization
MH  - Retinoblastoma/*genetics/pathology
OTO - NOTNLM
OT  - 13q deletion
OT  - RB1 mutation
OT  - Trilateral retinoblastoma
EDAT- 2014/01/15 06:00
MHDA- 2014/06/10 06:00
CRDT- 2014/01/14 06:00
PHST- 2013/09/06 00:00 [received]
PHST- 2013/10/16 00:00 [revised]
PHST- 2013/11/08 00:00 [accepted]
PHST- 2014/01/14 06:00 [entrez]
PHST- 2014/01/15 06:00 [pubmed]
PHST- 2014/06/10 06:00 [medline]
AID - S2210-7762(13)00156-7 [pii]
AID - 10.1016/j.cancergen.2013.11.001 [doi]
PST - ppublish
SO  - Cancer Genet. 2013 Nov;206(11):398-401. doi: 10.1016/j.cancergen.2013.11.001. 
      Epub 2013 Nov 19.