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...
Ausführliche Beschreibung
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: |
---|
DOI / URN: |
10.1038/s41698-021-00212-0 |
---|
Katalog-ID: |
DOAJ066807395 |
---|
LEADER | 01000caa a22002652 4500 | ||
---|---|---|---|
001 | DOAJ066807395 | ||
003 | DE-627 | ||
005 | 20240414110243.0 | ||
007 | cr uuu---uuuuu | ||
008 | 230228s2021 xx |||||o 00| ||eng c | ||
024 | 7 | |a 10.1038/s41698-021-00212-0 |2 doi | |
035 | |a (DE-627)DOAJ066807395 | ||
035 | |a (DE-599)DOAJcba62b9753aa46e6a2d5607deeabe06c | ||
040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
041 | |a eng | ||
050 | 0 | |a RC254-282 | |
100 | 0 | |a Elyssa Y. Wong |e verfasserin |4 aut | |
245 | 1 | 0 | |a Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy |
264 | 1 | |c 2021 | |
336 | |a Text |b txt |2 rdacontent | ||
337 | |a Computermedien |b c |2 rdamedia | ||
338 | |a Online-Ressource |b cr |2 rdacarrier | ||
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. | ||
653 | 0 | |a Neoplasms. Tumors. Oncology. Including cancer and carcinogens | |
700 | 0 | |a Liya Xu |e verfasserin |4 aut | |
700 | 0 | |a Lishuang Shen |e verfasserin |4 aut | |
700 | 0 | |a Mary E. Kim |e verfasserin |4 aut | |
700 | 0 | |a Ashley Polski |e verfasserin |4 aut | |
700 | 0 | |a Rishvanth K. Prabakar |e verfasserin |4 aut | |
700 | 0 | |a Rachana Shah |e verfasserin |4 aut | |
700 | 0 | |a Rima Jubran |e verfasserin |4 aut | |
700 | 0 | |a Jonathan W. Kim |e verfasserin |4 aut | |
700 | 0 | |a Jaclyn A. Biegel |e verfasserin |4 aut | |
700 | 0 | |a Xiaowu Gai |e verfasserin |4 aut | |
700 | 0 | |a Peter Kuhn |e verfasserin |4 aut | |
700 | 0 | |a James Hicks |e verfasserin |4 aut | |
700 | 0 | |a Jesse L. Berry |e verfasserin |4 aut | |
773 | 0 | 8 | |i In |t npj Precision Oncology |d Nature Portfolio, 2017 |g 5(2021), 1, Seite 6 |w (DE-627)884384454 |w (DE-600)2891458-2 |x 2397768X |7 nnns |
773 | 1 | 8 | |g volume:5 |g year:2021 |g number:1 |g pages:6 |
856 | 4 | 0 | |u https://doi.org/10.1038/s41698-021-00212-0 |z kostenfrei |
856 | 4 | 0 | |u https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c |z kostenfrei |
856 | 4 | 0 | |u https://doi.org/10.1038/s41698-021-00212-0 |z kostenfrei |
856 | 4 | 2 | |u https://doaj.org/toc/2397-768X |y Journal toc |z kostenfrei |
912 | |a GBV_USEFLAG_A | ||
912 | |a SYSFLAG_A | ||
912 | |a GBV_DOAJ | ||
912 | |a GBV_ILN_20 | ||
912 | |a GBV_ILN_22 | ||
912 | |a GBV_ILN_23 | ||
912 | |a GBV_ILN_24 | ||
912 | |a GBV_ILN_39 | ||
912 | |a GBV_ILN_40 | ||
912 | |a GBV_ILN_60 | ||
912 | |a GBV_ILN_62 | ||
912 | |a GBV_ILN_63 | ||
912 | |a GBV_ILN_65 | ||
912 | |a GBV_ILN_69 | ||
912 | |a GBV_ILN_73 | ||
912 | |a GBV_ILN_74 | ||
912 | |a GBV_ILN_95 | ||
912 | |a GBV_ILN_105 | ||
912 | |a GBV_ILN_110 | ||
912 | |a GBV_ILN_151 | ||
912 | |a GBV_ILN_161 | ||
912 | |a GBV_ILN_170 | ||
912 | |a GBV_ILN_206 | ||
912 | |a GBV_ILN_213 | ||
912 | |a GBV_ILN_230 | ||
912 | |a GBV_ILN_285 | ||
912 | |a GBV_ILN_293 | ||
912 | |a GBV_ILN_602 | ||
912 | |a GBV_ILN_2014 | ||
912 | |a GBV_ILN_4012 | ||
912 | |a GBV_ILN_4037 | ||
912 | |a GBV_ILN_4112 | ||
912 | |a GBV_ILN_4125 | ||
912 | |a GBV_ILN_4126 | ||
912 | |a GBV_ILN_4249 | ||
912 | |a GBV_ILN_4305 | ||
912 | |a GBV_ILN_4306 | ||
912 | |a GBV_ILN_4307 | ||
912 | |a GBV_ILN_4313 | ||
912 | |a GBV_ILN_4322 | ||
912 | |a GBV_ILN_4323 | ||
912 | |a GBV_ILN_4324 | ||
912 | |a GBV_ILN_4325 | ||
912 | |a GBV_ILN_4338 | ||
912 | |a GBV_ILN_4367 | ||
912 | |a GBV_ILN_4700 | ||
951 | |a AR | ||
952 | |d 5 |j 2021 |e 1 |h 6 |
author_variant |
e y w eyw l x lx l s ls m e k mek a p ap r k p rkp r s rs r j rj j w k jwk j a b jab x g xg p k pk j h jh j l b jlb |
---|---|
matchkey_str |
article:2397768X:2021----::neeeeoihtrgniyniaeartnbatmvaqe |
hierarchy_sort_str |
2021 |
callnumber-subject-code |
RC |
publishDate |
2021 |
allfields |
10.1038/s41698-021-00212-0 doi (DE-627)DOAJ066807395 (DE-599)DOAJcba62b9753aa46e6a2d5607deeabe06c DE-627 ger DE-627 rakwb eng RC254-282 Elyssa Y. Wong verfasserin aut Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Neoplasms. Tumors. Oncology. Including cancer and carcinogens Liya Xu verfasserin aut Lishuang Shen verfasserin aut Mary E. Kim verfasserin aut Ashley Polski verfasserin aut Rishvanth K. Prabakar verfasserin aut Rachana Shah verfasserin aut Rima Jubran verfasserin aut Jonathan W. Kim verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In npj Precision Oncology Nature Portfolio, 2017 5(2021), 1, Seite 6 (DE-627)884384454 (DE-600)2891458-2 2397768X nnns volume:5 year:2021 number:1 pages:6 https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c kostenfrei https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/toc/2397-768X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2021 1 6 |
spelling |
10.1038/s41698-021-00212-0 doi (DE-627)DOAJ066807395 (DE-599)DOAJcba62b9753aa46e6a2d5607deeabe06c DE-627 ger DE-627 rakwb eng RC254-282 Elyssa Y. Wong verfasserin aut Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Neoplasms. Tumors. Oncology. Including cancer and carcinogens Liya Xu verfasserin aut Lishuang Shen verfasserin aut Mary E. Kim verfasserin aut Ashley Polski verfasserin aut Rishvanth K. Prabakar verfasserin aut Rachana Shah verfasserin aut Rima Jubran verfasserin aut Jonathan W. Kim verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In npj Precision Oncology Nature Portfolio, 2017 5(2021), 1, Seite 6 (DE-627)884384454 (DE-600)2891458-2 2397768X nnns volume:5 year:2021 number:1 pages:6 https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c kostenfrei https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/toc/2397-768X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2021 1 6 |
allfields_unstemmed |
10.1038/s41698-021-00212-0 doi (DE-627)DOAJ066807395 (DE-599)DOAJcba62b9753aa46e6a2d5607deeabe06c DE-627 ger DE-627 rakwb eng RC254-282 Elyssa Y. Wong verfasserin aut Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Neoplasms. Tumors. Oncology. Including cancer and carcinogens Liya Xu verfasserin aut Lishuang Shen verfasserin aut Mary E. Kim verfasserin aut Ashley Polski verfasserin aut Rishvanth K. Prabakar verfasserin aut Rachana Shah verfasserin aut Rima Jubran verfasserin aut Jonathan W. Kim verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In npj Precision Oncology Nature Portfolio, 2017 5(2021), 1, Seite 6 (DE-627)884384454 (DE-600)2891458-2 2397768X nnns volume:5 year:2021 number:1 pages:6 https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c kostenfrei https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/toc/2397-768X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2021 1 6 |
allfieldsGer |
10.1038/s41698-021-00212-0 doi (DE-627)DOAJ066807395 (DE-599)DOAJcba62b9753aa46e6a2d5607deeabe06c DE-627 ger DE-627 rakwb eng RC254-282 Elyssa Y. Wong verfasserin aut Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Neoplasms. Tumors. Oncology. Including cancer and carcinogens Liya Xu verfasserin aut Lishuang Shen verfasserin aut Mary E. Kim verfasserin aut Ashley Polski verfasserin aut Rishvanth K. Prabakar verfasserin aut Rachana Shah verfasserin aut Rima Jubran verfasserin aut Jonathan W. Kim verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In npj Precision Oncology Nature Portfolio, 2017 5(2021), 1, Seite 6 (DE-627)884384454 (DE-600)2891458-2 2397768X nnns volume:5 year:2021 number:1 pages:6 https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c kostenfrei https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/toc/2397-768X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2021 1 6 |
allfieldsSound |
10.1038/s41698-021-00212-0 doi (DE-627)DOAJ066807395 (DE-599)DOAJcba62b9753aa46e6a2d5607deeabe06c DE-627 ger DE-627 rakwb eng RC254-282 Elyssa Y. Wong verfasserin aut Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Neoplasms. Tumors. Oncology. Including cancer and carcinogens Liya Xu verfasserin aut Lishuang Shen verfasserin aut Mary E. Kim verfasserin aut Ashley Polski verfasserin aut Rishvanth K. Prabakar verfasserin aut Rachana Shah verfasserin aut Rima Jubran verfasserin aut Jonathan W. Kim verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In npj Precision Oncology Nature Portfolio, 2017 5(2021), 1, Seite 6 (DE-627)884384454 (DE-600)2891458-2 2397768X nnns volume:5 year:2021 number:1 pages:6 https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c kostenfrei https://doi.org/10.1038/s41698-021-00212-0 kostenfrei https://doaj.org/toc/2397-768X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2021 1 6 |
language |
English |
source |
In npj Precision Oncology 5(2021), 1, Seite 6 volume:5 year:2021 number:1 pages:6 |
sourceStr |
In npj Precision Oncology 5(2021), 1, Seite 6 volume:5 year:2021 number:1 pages:6 |
format_phy_str_mv |
Article |
institution |
findex.gbv.de |
topic_facet |
Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
isfreeaccess_bool |
true |
container_title |
npj Precision Oncology |
authorswithroles_txt_mv |
Elyssa Y. Wong @@aut@@ Liya Xu @@aut@@ Lishuang Shen @@aut@@ Mary E. Kim @@aut@@ Ashley Polski @@aut@@ Rishvanth K. Prabakar @@aut@@ Rachana Shah @@aut@@ Rima Jubran @@aut@@ Jonathan W. Kim @@aut@@ Jaclyn A. Biegel @@aut@@ Xiaowu Gai @@aut@@ Peter Kuhn @@aut@@ James Hicks @@aut@@ Jesse L. Berry @@aut@@ |
publishDateDaySort_date |
2021-01-01T00:00:00Z |
hierarchy_top_id |
884384454 |
id |
DOAJ066807395 |
language_de |
englisch |
fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ066807395</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240414110243.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230228s2021 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1038/s41698-021-00212-0</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ066807395</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJcba62b9753aa46e6a2d5607deeabe06c</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RC254-282</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Elyssa Y. Wong</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="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.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Neoplasms. Tumors. Oncology. Including cancer and carcinogens</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Liya Xu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Lishuang Shen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Mary E. Kim</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ashley Polski</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rishvanth K. Prabakar</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rachana Shah</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rima Jubran</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jonathan W. Kim</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jaclyn A. Biegel</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Xiaowu Gai</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Peter Kuhn</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">James Hicks</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jesse L. Berry</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">npj Precision Oncology</subfield><subfield code="d">Nature Portfolio, 2017</subfield><subfield code="g">5(2021), 1, Seite 6</subfield><subfield code="w">(DE-627)884384454</subfield><subfield code="w">(DE-600)2891458-2</subfield><subfield code="x">2397768X</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:5</subfield><subfield code="g">year:2021</subfield><subfield code="g">number:1</subfield><subfield code="g">pages:6</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1038/s41698-021-00212-0</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1038/s41698-021-00212-0</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2397-768X</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">5</subfield><subfield code="j">2021</subfield><subfield code="e">1</subfield><subfield code="h">6</subfield></datafield></record></collection>
|
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 |
authorStr |
Elyssa Y. Wong |
ppnlink_with_tag_str_mv |
@@773@@(DE-627)884384454 |
format |
electronic Article |
delete_txt_mv |
keep |
author_role |
aut aut aut aut aut aut aut aut aut aut aut aut aut aut |
collection |
DOAJ |
remote_str |
true |
callnumber-label |
RC254-282 |
illustrated |
Not Illustrated |
issn |
2397768X |
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 |
topic_browse |
misc RC254-282 misc Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
format_main_str_mv |
Text Zeitschrift/Artikel |
carriertype_str_mv |
cr |
hierarchy_parent_title |
npj Precision Oncology |
hierarchy_parent_id |
884384454 |
hierarchy_top_title |
npj Precision Oncology |
isfreeaccess_txt |
true |
familylinks_str_mv |
(DE-627)884384454 (DE-600)2891458-2 |
title |
Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy |
ctrlnum |
(DE-627)DOAJ066807395 (DE-599)DOAJcba62b9753aa46e6a2d5607deeabe06c |
title_full |
Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy |
author_sort |
Elyssa Y. Wong |
journal |
npj Precision Oncology |
journalStr |
npj Precision Oncology |
callnumber-first-code |
R |
lang_code |
eng |
isOA_bool |
true |
recordtype |
marc |
publishDateSort |
2021 |
contenttype_str_mv |
txt |
container_start_page |
6 |
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 |
container_volume |
5 |
class |
RC254-282 |
format_se |
Elektronische Aufsätze |
author-letter |
Elyssa Y. Wong |
doi_str_mv |
10.1038/s41698-021-00212-0 |
author2-role |
verfasserin |
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. |
collection_details |
GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 |
container_issue |
1 |
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 |
remote_bool |
true |
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 |
author2Str |
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 |
ppnlink |
884384454 |
callnumber-subject |
RC - Internal Medicine |
mediatype_str_mv |
c |
isOA_txt |
true |
hochschulschrift_bool |
false |
doi_str |
10.1038/s41698-021-00212-0 |
callnumber-a |
RC254-282 |
up_date |
2024-07-03T22:06:12.488Z |
_version_ |
1803597247925977088 |
fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ066807395</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240414110243.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230228s2021 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1038/s41698-021-00212-0</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ066807395</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJcba62b9753aa46e6a2d5607deeabe06c</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RC254-282</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Elyssa Y. Wong</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="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.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Neoplasms. Tumors. Oncology. Including cancer and carcinogens</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Liya Xu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Lishuang Shen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Mary E. Kim</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ashley Polski</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rishvanth K. Prabakar</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rachana Shah</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rima Jubran</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jonathan W. Kim</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jaclyn A. Biegel</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Xiaowu Gai</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Peter Kuhn</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">James Hicks</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jesse L. Berry</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">npj Precision Oncology</subfield><subfield code="d">Nature Portfolio, 2017</subfield><subfield code="g">5(2021), 1, Seite 6</subfield><subfield code="w">(DE-627)884384454</subfield><subfield code="w">(DE-600)2891458-2</subfield><subfield code="x">2397768X</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:5</subfield><subfield code="g">year:2021</subfield><subfield code="g">number:1</subfield><subfield code="g">pages:6</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1038/s41698-021-00212-0</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/cba62b9753aa46e6a2d5607deeabe06c</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1038/s41698-021-00212-0</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2397-768X</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">5</subfield><subfield code="j">2021</subfield><subfield code="e">1</subfield><subfield code="h">6</subfield></datafield></record></collection>
|
score |
7.4012613 |