title: A novel translocation t(11;13) (q21;q14.2) in a child with suprasellar primitive neuroectodermal tumor and retinoblastoma.
abstract: OBJECTIVE
  To report on a novel translocation related to a suprasellar primitive neuroectodermal tumor (sPNET) and retinoblastoma.
  
  
  METHODS
  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.
authors.affiliation: The Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.
authors.forename: Stephen
authors.initials: S
authors.lastname: Huddleston
authors.forename: Rene Y
authors.initials: RY
authors.lastname: McNall-Knapp
authors.forename: Michael
authors.initials: M
authors.lastname: Siatkowski
authors.forename: Christine
authors.initials: C
authors.lastname: Odom
authors.forename: Rachel
authors.initials: R
authors.lastname: Brennan
authors.forename: Matthew W
authors.initials: MW
authors.lastname: Wilson
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002648:Child; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003131:Combined Modality Therapy; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D018242:Neuroectodermal Tumors, Primitive / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics*; D016160:Retinoblastoma Protein / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D016160:Retinoblastoma Protein