Molecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult

Retinoblastoma is the most common pediatric intraocular cancer. Rarely, it may develop in adults, with different clinical and imaging characteristics that make the diagnosis a challenge. We present a case of a white retinal tumor in a 42-year-old woman that progressed slowly over 3 years and on enuc...

Full description

Saved in:
Bibliographic Details
Published inOphthalmic Genetics Vol. 41; no. 4; pp. 350 - 353
Main Authors Soliman, Sameh E., Martínez, Silvia, De Nicola, M. Laura, Kiehl, Rasmus, Krema, Hatem
Format Report
LanguageEnglish
Published Taylor & Francis 03.07.2020
Subjects
Adult
discordance
molecular diagnosis
rb1
retinoblastoma
retinoma
Online AccessGet full text

Cover

More Information
Summary:Retinoblastoma is the most common pediatric intraocular cancer. Rarely, it may develop in adults, with different clinical and imaging characteristics that make the diagnosis a challenge. We present a case of a white retinal tumor in a 42-year-old woman that progressed slowly over 3 years and on enucleation an undifferentiated tumor was found without a conclusive diagnosis. Molecular analysis identified RB1 pathogenic variant that confirmed retinoblastoma diagnosis in this discordant clinicopathologic presentation of the tumor.
ISSN:1381-6810
1744-5094
DOI:10.1080/13816810.2020.1765398