Huddleston Stephen, McNall-Knapp Rene Y, Siatkowski Michael, Odom Christine, Brennan Rachel, Wilson Matthew W
The Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.
Ophthalmic Genet. 2013 Mar-Jun;34(1-2):97-100. doi: 10.3109/13816810.2012.719058. Epub 2012 Aug 27.
To report on a novel translocation related to a suprasellar primitive neuroectodermal tumor (sPNET) and retinoblastoma.
Case report.
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.
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.
Our patient had a novel translocation affecting the retinoblastoma 1 (RB1) 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.
