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

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

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.

Originalsprog	Engelsk
Tidsskrift	Clinical Case Reports
Vol/bind	10
Udgave nummer	3
Sider (fra-til)	e05498
ISSN	2050-0904
DOI	https://doi.org/10.1002/ccr3.5498
Status	Udgivet - mar. 2022

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10.1002/ccr3.5498

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

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.",

author = "Eiset, {Saga Elise} and Mikkel Funding and Hilary Racher and Steffen Heegaard and Brenda Gallie and Urbak, {Steen Fiil} and Gregersen, {Pernille A}",

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year = "2022",

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TY - JOUR

T1 - Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion

AU - Eiset, Saga Elise

AU - Funding, Mikkel

AU - Racher, Hilary

AU - Heegaard, Steffen

AU - Gallie, Brenda

AU - Urbak, Steen Fiil

AU - Gregersen, Pernille A

PY - 2022/3

Y1 - 2022/3

N2 - 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.

AB - 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.

U2 - 10.1002/ccr3.5498

DO - 10.1002/ccr3.5498

M3 - Journal article

C2 - 35340648

SN - 2050-0904

VL - 10

SP - e05498

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 3

ER -

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

Abstract

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