Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion

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  • Saga Elise Eiset
  • Mikkel Funding
  • Hilary Racher
  • Heegaard, Steffen
  • Brenda Gallie
  • Steen Fiil Urbak
  • Pernille A. Gregersen

The clinical course of trilateral retinoblastoma can be unpredictable, and expressivity of germline RB1 variants may vary during development. We describe an unexpected fatal case of trilateral retinoblastoma with an intracranial tumor in an unusual location and discuss genetic copy number analyses as a useful diagnostic tool with therapeutic potential.

Original languageEnglish
Article numbere05498
JournalClinical Case Reports
Volume10
Issue number3
Number of pages6
ISSN2050-0904
DOIs
Publication statusPublished - 2022

    Research areas

  • DNA copy number analysis, intracranial tumor, RB1, retinoblastoma, trilateral, LOW-PENETRANCE, CANCER

ID: 345428092