Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1

Pediatr Hematol Oncol. 2019 Mar;36(2):82-85. doi: 10.1080/08880018.2019.1591550. Epub 2019 Apr 9.
No abstract available

Keywords: LGG; NF1; OPG; RB; orbital cellulitis.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Codon, Nonsense
  • Diagnosis, Differential
  • Exons / genetics
  • Eye Enucleation
  • Eye Neoplasms / diagnosis*
  • Eye Neoplasms / genetics
  • Eye Neoplasms / surgery
  • Female
  • Genes, Retinoblastoma
  • Genetic Predisposition to Disease
  • Humans
  • Mutation, Missense
  • Neoplasms, Multiple Primary / diagnosis*
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / surgery
  • Neurofibromatosis 1* / diagnosis
  • Neurofibromatosis 1* / genetics
  • Optic Nerve Glioma / diagnosis*
  • Optic Nerve Glioma / genetics
  • Optic Nerve Glioma / surgery
  • Optic Nerve Neoplasms / diagnosis*
  • Optic Nerve Neoplasms / genetics
  • Optic Nerve Neoplasms / surgery
  • Orbital Cellulitis / diagnosis
  • Retinoblastoma / diagnosis*
  • Retinoblastoma / genetics
  • Retinoblastoma / surgery
  • Retinoblastoma Binding Proteins / genetics
  • Sequence Deletion
  • Ubiquitin-Protein Ligases / genetics

Substances

  • Codon, Nonsense
  • RB1 protein, human
  • Retinoblastoma Binding Proteins
  • Ubiquitin-Protein Ligases