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

Stephen Huddleston, Rene Y. McNall-Knapp, Michael Siatkowski, Christine Odom, Rachel Brennan, Matthew Wilson

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)97-100
Number of pages4
JournalOphthalmic Genetics
Volume34
Issue number1-2
DOIs
StatePublished - Mar 1 2013

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Primitive Neuroectodermal Tumors
Retinoblastoma
Genetic Testing
Retinoblastoma Genes
Karyotype
Stem Cells
Central Nervous System
Drug Therapy
Mutation

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

Cite this

A novel translocation t(11;13) (q21;q14.2) in a child with suprasellar primitive neuroectodermal tumor and retinoblastoma. / Huddleston, Stephen; McNall-Knapp, Rene Y.; Siatkowski, Michael; Odom, Christine; Brennan, Rachel; Wilson, Matthew.

In: Ophthalmic Genetics, Vol. 34, No. 1-2, 01.03.2013, p. 97-100.

Research output: Contribution to journalArticle

Huddleston, Stephen ; McNall-Knapp, Rene Y. ; Siatkowski, Michael ; Odom, Christine ; Brennan, Rachel ; Wilson, Matthew. / A novel translocation t(11;13) (q21;q14.2) in a child with suprasellar primitive neuroectodermal tumor and retinoblastoma. In: Ophthalmic Genetics. 2013 ; Vol. 34, No. 1-2. pp. 97-100.
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AU - Brennan, Rachel

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