Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy

Abstract Germline alterations in the RB1 tumor suppressor gene predispose patients to develop retinoblastoma (RB) in both eyes. While similar treatment is given for each eye, there is often a variable therapeutic response between the eyes. Herein, we use the aqueous humor (AH) liquid biopsy to evalu...
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Autor*in:	Elyssa Y. Wong [verfasserIn] Liya Xu [verfasserIn] Lishuang Shen [verfasserIn] Mary E. Kim [verfasserIn] Ashley Polski [verfasserIn] Rishvanth K. Prabakar [verfasserIn] Rachana Shah [verfasserIn] Rima Jubran [verfasserIn] Jonathan W. Kim [verfasserIn] Jaclyn A. Biegel [verfasserIn] Xiaowu Gai [verfasserIn] Peter Kuhn [verfasserIn] James Hicks [verfasserIn] Jesse L. Berry [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Übergeordnetes Werk:	In: npj Precision Oncology - Nature Portfolio, 2017, 5(2021), 1, Seite 6
Übergeordnetes Werk:	volume:5 ; year:2021 ; number:1 ; pages:6

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1038/s41698-021-00212-0

Katalog-ID:	DOAJ066807395

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520			\|a Abstract Germline alterations in the RB1 tumor suppressor gene predispose patients to develop retinoblastoma (RB) in both eyes. While similar treatment is given for each eye, there is often a variable therapeutic response between the eyes. Herein, we use the aqueous humor (AH) liquid biopsy to evaluate the cell-free tumor DNA (ctDNA) from each eye in a patient with bilateral RB. Despite the same predisposing germline RB1 mutation, AH analysis identified a different somatic RB1 mutation as well as separate and distinct chromosomal alterations in each eye. The longitudinal alterations in tumor fraction (TFx) corresponded to therapeutic responses in each eye. This case demonstrates that bilateral RB tumors develop separate genomic alterations, which may play a role in tumorigenesis and prognosis for eye salvage. Identifying these inter-eye differences without the need for enucleated tumor tissue may help direct active management of RB, with particular usefulness in bilateral cases.
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callnumber-first	R - Medicine
author	Elyssa Y. Wong
spellingShingle	Elyssa Y. Wong misc RC254-282 misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
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topic_title	RC254-282 Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
topic	misc RC254-282 misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens
topic_unstemmed	misc RC254-282 misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens
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title	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
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title_full	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
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author_browse	Elyssa Y. Wong Liya Xu Lishuang Shen Mary E. Kim Ashley Polski Rishvanth K. Prabakar Rachana Shah Rima Jubran Jonathan W. Kim Jaclyn A. Biegel Xiaowu Gai Peter Kuhn James Hicks Jesse L. Berry
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title_sort	inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
callnumber	RC254-282
title_auth	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
abstract	Abstract Germline alterations in the RB1 tumor suppressor gene predispose patients to develop retinoblastoma (RB) in both eyes. While similar treatment is given for each eye, there is often a variable therapeutic response between the eyes. Herein, we use the aqueous humor (AH) liquid biopsy to evaluate the cell-free tumor DNA (ctDNA) from each eye in a patient with bilateral RB. Despite the same predisposing germline RB1 mutation, AH analysis identified a different somatic RB1 mutation as well as separate and distinct chromosomal alterations in each eye. The longitudinal alterations in tumor fraction (TFx) corresponded to therapeutic responses in each eye. This case demonstrates that bilateral RB tumors develop separate genomic alterations, which may play a role in tumorigenesis and prognosis for eye salvage. Identifying these inter-eye differences without the need for enucleated tumor tissue may help direct active management of RB, with particular usefulness in bilateral cases.
abstractGer	Abstract Germline alterations in the RB1 tumor suppressor gene predispose patients to develop retinoblastoma (RB) in both eyes. While similar treatment is given for each eye, there is often a variable therapeutic response between the eyes. Herein, we use the aqueous humor (AH) liquid biopsy to evaluate the cell-free tumor DNA (ctDNA) from each eye in a patient with bilateral RB. Despite the same predisposing germline RB1 mutation, AH analysis identified a different somatic RB1 mutation as well as separate and distinct chromosomal alterations in each eye. The longitudinal alterations in tumor fraction (TFx) corresponded to therapeutic responses in each eye. This case demonstrates that bilateral RB tumors develop separate genomic alterations, which may play a role in tumorigenesis and prognosis for eye salvage. Identifying these inter-eye differences without the need for enucleated tumor tissue may help direct active management of RB, with particular usefulness in bilateral cases.
abstract_unstemmed	Abstract Germline alterations in the RB1 tumor suppressor gene predispose patients to develop retinoblastoma (RB) in both eyes. While similar treatment is given for each eye, there is often a variable therapeutic response between the eyes. Herein, we use the aqueous humor (AH) liquid biopsy to evaluate the cell-free tumor DNA (ctDNA) from each eye in a patient with bilateral RB. Despite the same predisposing germline RB1 mutation, AH analysis identified a different somatic RB1 mutation as well as separate and distinct chromosomal alterations in each eye. The longitudinal alterations in tumor fraction (TFx) corresponded to therapeutic responses in each eye. This case demonstrates that bilateral RB tumors develop separate genomic alterations, which may play a role in tumorigenesis and prognosis for eye salvage. Identifying these inter-eye differences without the need for enucleated tumor tissue may help direct active management of RB, with particular usefulness in bilateral cases.
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title_short	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
url	https://doi.org/10.1038/s41698-021-00212-0 https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c https://doaj.org/toc/2397-768X
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author2	Liya Xu Lishuang Shen Mary E. Kim Ashley Polski Rishvanth K. Prabakar Rachana Shah Rima Jubran Jonathan W. Kim Jaclyn A. Biegel Xiaowu Gai Peter Kuhn James Hicks Jesse L. Berry
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Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy

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