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

Authors :: Eiset SE
Funding M
Racher H
Heegaard S
Gallie B
Urbak SF
Gregersen PA
Source :: Clinical case reports [Clin Case Rep] 2022 Mar 18; Vol. 10 (3), pp. e05498. Date of Electronic Publication: 2022 Mar 18 (Print Publication: 2022).
Publication Year :: 2022
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.<br />Competing Interests: The authors declare no conflicts of interest.<br /> (© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

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