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Retinoblastoma and mosaic 13q deletion: a case report

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Retinoblastoma and mosaic 13q deletion: a case report

dc.contributor.author	Gargallo, Pablo
dc.contributor.author	Oltra Soler, Juan Silvestre
dc.contributor.author	Balaguer Guill, Julia
dc.contributor.author	Barranco, Honorio
dc.contributor.author	Yáñez Peralta, Yania
dc.contributor.author	Segura, Vanessa
dc.contributor.author	Juan Ribelles, Antonio
dc.contributor.author	Calabria, Inés
dc.contributor.author	Llavador, Margarita
dc.contributor.author	Castel Sánchez, Victoria
dc.contributor.author	Cañete Nieto, Adela
dc.date.accessioned	2022-04-26T13:41:45Z
dc.date.available	2022-04-26T13:41:45Z
dc.date.issued	2021
dc.identifier.citation	Gargallo, Pablo Oltra Soler, Juan Silvestre Balaguer Guill, Julia Barranco, Honorio Yáñez Peralta, Yania Segura, Vanessa Juan Ribelles, Antonio Calabria, Inés Llavador, Margarita Castel Sánchez, Victoria Cañete Nieto, Adela 2021 Retinoblastoma and mosaic 13q deletion: a case report International Journal of Retina and Vitreous 7 50 1 6
dc.identifier.uri	https://hdl.handle.net/10550/82397
dc.description.abstract	Patients 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 PRESENTATION: Retinoblastoma 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 CONCLUSIONS: We 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.
dc.language.iso	eng
dc.relation.ispartof	International Journal of Retina and Vitreous, 2021, vol. 7, num. 50, p. 1-6
dc.subject	Genètica molecular
dc.subject	Citogenètica
dc.subject	Càncer
dc.title	Retinoblastoma and mosaic 13q deletion: a case report
dc.type	journal article	es_ES
dc.date.updated	2022-04-26T13:41:46Z
dc.identifier.doi	10.1186/s40942-021-00321-9
dc.identifier.idgrec	151536
dc.rights.accessRights	open access	es_ES