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

Abstract

Purpose: To report on a novel translocation related to a suprasellar primitive neuroectodermal tumor (sPNET) and retinoblastoma.

Design: Case report.

Methods: 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.

Results: 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.

Conclusions: 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.

KEYWORDS::

• Suprasellar primitive neuroectodermal tumor
• Retinoblastoma
• RB1
• Translocation

Declaration of interest: Our funding sources are an unrestricted grant to the Department of Ophthalmology from Research to Prevent Blindness, New York, New York; and an unrestricted grant from the St Giles Foundation to Dr Matthew W. Wilson. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.