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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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
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author Eiset, Saga Elise
Funding, Mikkel
Racher, Hilary
Heegaard, Steffen
Gallie, Brenda
Urbak, Steen Fiil
Gregersen, Pernille A.
author_facet Eiset, Saga Elise
Funding, Mikkel
Racher, Hilary
Heegaard, Steffen
Gallie, Brenda
Urbak, Steen Fiil
Gregersen, Pernille A.
author_sort Eiset, Saga Elise
collection PubMed
description 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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spelling pubmed-89336312022-03-24 Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion Eiset, Saga Elise Funding, Mikkel Racher, Hilary Heegaard, Steffen Gallie, Brenda Urbak, Steen Fiil Gregersen, Pernille A. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2022-03-18 /pmc/articles/PMC8933631/ /pubmed/35340648 http://dx.doi.org/10.1002/ccr3.5498 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Eiset, Saga Elise
Funding, Mikkel
Racher, Hilary
Heegaard, Steffen
Gallie, Brenda
Urbak, Steen Fiil
Gregersen, Pernille A.
Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion
title Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion
title_full Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion
title_fullStr Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion
title_full_unstemmed Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion
title_short Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion
title_sort metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity rb1 germline deletion
topic Case Reports
url 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
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