A novel translocation t(11;13) (q21;q14.2) in a child with suprasellar primitive neuroectodermal tumor and retinoblastoma. (June 2013)

• Record Type: Journal Article
• Authors: Huddleston, Stephen; McNall-Knapp, Rene Y.; Siatkowski, Michael; Odom, Christine; Brennan, Rachel; Wilson, Matthew W.
• Is Part Of: Ophthalmic genetics. Volume 34:Number 1/2(2013:Mar./Jun.)
• Page Start: 97
• Page End: 100
• Publication Date: 2013-06
• Subjects: Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2012.719058
• Languages: English
• ISSNs: 1381-6810

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>Purpose:</italic> To report on a novel translocation related to a suprasellar primitive neuroectodermal tumor (sPNET) and retinoblastoma.</p> <p> <italic>Design:</italic> Case report.</p> <p> <italic>Methods:</italic> A 6-year-old girl underwent genetic testing after developing unilateral retinoblastoma subsequent to treatment (surgery, chemotherapy, and stem-cell rescue) for a sPNET found at 1 year of age.</p> <p> <italic>Results:</italic> Genetic testing found the girl's karyotype to be 46, XX, t(11;13)(q21;q14.2); a novel translocation not previously reported in patients with either retinoblastoma or sPNET.</p> <p> <italic>Conclusions:</italic> Our patient had a novel translocation affecting the retinoblastoma 1 <italic>(RB1)</italic> gene, 46, XX, t(11;13)(q21;q14.2) resulting in the late development of unilateral retinoblastoma. Although she only developed unilateral retinoblastoma, her central nervous system was affected at a very early age. How her complex mutation resulted in retinoblastoma and antecedent sPNET remains unknown.</p> </abstract>