Molecular analysis confirms retinoblastoma diagnosis in a histologically undifferentiated retinal tumor in an adult. (3rd July 2020)

• Record Type: Journal Article
• Authors: Soliman, Sameh E.; Martínez, Silvia; De Nicola, M. Laura; Kiehl, Rasmus; Krema, Hatem
• Is Part Of: Ophthalmic genetics. Volume 41:Number 4(2020)
• Page Start: 350
• Page End: 353
• Publication Date: 2020-07-03
• Subjects: Adult -- retinoblastoma -- retinoma -- discordance -- rb1 -- molecular diagnosis; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2020.1765398
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: 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.