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

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

doi:10.1002/ccr3.5498

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

Clin Case Rep. 2022 Mar 18;10(3):e05498. doi: 10.1002/ccr3.5498. eCollection 2022 Mar.

Authors

Saga Elise Eiset^{1

2}, Mikkel Funding³, Hilary Racher^{4

5}, Steffen Heegaard⁶, Brenda Gallie^{7

8}, Steen Fiil Urbak³, Pernille A Gregersen^{1

9}

Affiliations

¹ Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark.
² Department of Pediatrics and Adolescent Medicine Aarhus University Hospital Aarhus Denmark.
³ Department of Ophthalmology Aarhus University Hospital Aarhus Denmark.
⁴ Impact Genetics Brampton Canada.
⁵ Department of Laboratory Medicine & Pathobiology University of Toronto Brampton Canada.
⁶ Department of Ophthalmology and Pathology, Rigshospitalet University of Copenhagen Denmark.
⁷ Department of Ophthalmology The Hospital for Sick Children Toronto Canada.
⁸ Departments of Ophthalmology and Vision Science Medical Biophysics and Molecular Genetics University of Toronto Toronto Canada.
⁹ Center for Rare Disorders Pediatrics and Adolescent Medicine Aarhus University Hospital Aarhus Denmark.

Abstract

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.

Keywords: DNA copy number analysis; RB1; intracranial tumor; retinoblastoma; trilateral.

Publication types

Case Reports