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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c
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spelling	oai:doaj.org-article:cba62b9753aa46e6a2d5607deeabe06c2021-12-02T16:06:36ZInter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy10.1038/s41698-021-00212-02397-768Xhttps://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c2021-07-01T00:00:00Zhttps://doi.org/10.1038/s41698-021-00212-0https://doaj.org/toc/2397-768XAbstract 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.Elyssa Y. WongLiya XuLishuang ShenMary E. KimAshley PolskiRishvanth K. PrabakarRachana ShahRima JubranJonathan W. KimJaclyn A. BiegelXiaowu GaiPeter KuhnJames HicksJesse L. BerryNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Precision Oncology, Vol 5, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 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 Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
description	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.
format	article
author	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
author_facet	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
author_sort	Elyssa Y. Wong
title	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
title_short	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
title_full	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
title_fullStr	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
title_full_unstemmed	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
title_sort	inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c
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Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy

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