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

Research output: Contribution to journal › Journal article › Research › peer-review

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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.

In: Clinical Case Reports, Vol. 10, No. 3, e05498, 2022.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Eiset, SE, Funding, M, Racher, H, Heegaard, S, Gallie, B, Urbak, SF & Gregersen, PA 2022, 'Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion', Clinical Case Reports, vol. 10, no. 3, e05498. https://doi.org/10.1002/ccr3.5498

APA

Eiset, S. E., Funding, M., Racher, H., Heegaard, S., Gallie, B., Urbak, S. F., & Gregersen, P. A. (2022). Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion. Clinical Case Reports, 10(3), [e05498]. https://doi.org/10.1002/ccr3.5498

Vancouver

Eiset SE, Funding M, Racher H, Heegaard S, Gallie B, Urbak SF et al. Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion. Clinical Case Reports. 2022;10(3). e05498. https://doi.org/10.1002/ccr3.5498

Author

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. In: Clinical Case Reports. 2022 ; Vol. 10, No. 3.

Bibtex

@article{34fd68a476d744ef86f9ead7d0998b68,
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.",
keywords = "DNA copy number analysis, intracranial tumor, RB1, retinoblastoma, trilateral, LOW-PENETRANCE, CANCER",
author = "Eiset, {Saga Elise} and Mikkel Funding and Hilary Racher and Steffen Heegaard and Brenda Gallie and Urbak, {Steen Fiil} and Gregersen, {Pernille A.}",
year = "2022",
doi = "10.1002/ccr3.5498",
language = "English",
volume = "10",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "JohnWiley & Sons Ltd",
number = "3",

}

RIS

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

Y1 - 2022

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.

KW - DNA copy number analysis

KW - intracranial tumor

KW - RB1

KW - retinoblastoma

KW - trilateral

KW - LOW-PENETRANCE

KW - CANCER

U2 - 10.1002/ccr3.5498

DO - 10.1002/ccr3.5498

M3 - Journal article

C2 - 35340648

VL - 10

JO - Clinical Case Reports

JF - Clinical Case Reports

SN - 2050-0904

IS - 3

M1 - e05498

ER -

ID: 345428092