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

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 a...

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Detalles Bibliográficos
Autores principales: Eiset, Saga Elise, Funding, Mikkel, Racher, Hilary, Heegaard, Steffen, Gallie, Brenda, Urbak, Steen Fiil, Gregersen, Pernille A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8933631/
https://www.ncbi.nlm.nih.gov/pubmed/35340648
http://dx.doi.org/10.1002/ccr3.5498
Descripción
Sumario: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.

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