Retinoblastoma and mosaic 13q deletion: a case report.
13q-syndrome
Cytogenetics
Molecular genetics
Mosaicism
Retinoblastoma
Journal
International journal of retina and vitreous
ISSN: 2056-9920
Titre abrégé: Int J Retina Vitreous
Pays: England
ID NLM: 101677897
Informations de publication
Date de publication:
03 Sep 2021
03 Sep 2021
Historique:
received:
25
01
2021
accepted:
26
08
2021
entrez:
4
9
2021
pubmed:
5
9
2021
medline:
5
9
2021
Statut:
epublish
Résumé
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. 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. 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.
Sections du résumé
BACKGROUND
BACKGROUND
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
METHODS
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
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.
Identifiants
pubmed: 34479642
doi: 10.1186/s40942-021-00321-9
pii: 10.1186/s40942-021-00321-9
pmc: PMC8418035
doi:
Types de publication
Journal Article
Langues
eng
Pagination
50Subventions
Organisme : Fundación para la Investigación del Hospital Universitari La Fe
ID : XVIII edition post-resident awards
Informations de copyright
© 2021. The Author(s).
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