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Retinoblastoma and mosaic 13q deletion: a case report

Authors
  • Gargallo, Pablo1, 2
  • Oltra, Silvestre3, 4
  • Balaguer, Julia1, 2, 3, 4, 5
  • Barranco, Honorio6
  • Yáñez, Yania1
  • Segura, Vanessa1
  • Juan-Ribelles, Antonio1, 2, 3, 4, 5
  • Calabria, Inés2
  • Llavador, Margarita7
  • Castel, Victoria1
  • Cañete, Adela1, 2, 3, 4, 5
  • 1 Health Research Institute La Fe (IIS La Fe), Valencia, Spain , Valencia (Spain)
  • 2 Imegen-Health in Code Group, Valencia, Spain , Valencia (Spain)
  • 3 La Fe Hospital, Valencia, Spain , Valencia (Spain)
  • 4 Valencia University, Valencia, Spain , Valencia (Spain)
  • 5 University Hospital La Fe, Valencia, Spain , Valencia (Spain)
  • 6 University Hospital La Fe Hospital, Valencia, Spain , Valencia (Spain)
  • 7 University La Fe Hospital, Valencia, Spain , Valencia (Spain)
Type
Published Article
Journal
International Journal of Retina and Vitreous
Publisher
BioMed Central
Publication Date
Sep 03, 2021
Volume
7
Issue
1
Identifiers
DOI: 10.1186/s40942-021-00321-9
Source
Springer Nature
Keywords
Disciplines
  • Case Report
License
Green

Abstract

BackgroundPatients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, although these signs could be mild. Mosaic 13q-deletion patients have been previously reported in the literature; their phenotype is variable, and they may not be recognized.Case presentationRetinoblastoma diagnosed in a child with 13q-mosaicism confirmed in blood, oral mucosa, healthy retina and retinoblastoma. A second RB1 hit is present exclusively in the retinoblastoma sample (RB1 c.958C>T p.Arg320Ter). Other detected molecular events in retinoblastoma are 6p12.3pter gain and 6q25.3qter loss. Clinical examination is unremarkable except for clinodactyly of the right fifth finger.Discussion and conclusionsWe describe a case of mosaic 13q deletion syndrome affected by retinoblastoma. Molecular data obtained from the tumor analysis are similar to previous data available about this malignancy. High clinical suspicion is essential for an adequate diagnosis of mosaic cases.

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