Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma

Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 3...
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Autor*in:	Deborah H. Im [verfasserIn] Chen-Ching Peng [verfasserIn] Liya Xu [verfasserIn] Mary E. Kim [verfasserIn] Dejerianne Ostrow [verfasserIn] Venkata Yellapantula [verfasserIn] Moiz Bootwalla [verfasserIn] Jaclyn A. Biegel [verfasserIn] Xiaowu Gai [verfasserIn] Rishvanth K. Prabakar [verfasserIn] Peter Kuhn [verfasserIn] James Hicks [verfasserIn] Jesse L. Berry [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	aqueous humor circulating-tumor DNA liquid biopsy uveal melanoma

Übergeordnetes Werk:	In: International Journal of Molecular Sciences - MDPI AG, 2003, 23(2022), 11, p 6226
Übergeordnetes Werk:	volume:23 ; year:2022 ; number:11, p 6226

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.3390/ijms23116226

Katalog-ID:	DOAJ079781802

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520			\|a Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of <i<BAP1</i< and <i<GNAQ</i< genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0/11 post-radiation choroidal and 6/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). <i<BAP1</i< or <i<GNAQ</i< variants were detected in 3/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM.
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Indexfelder

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allfields	10.3390/ijms23116226 doi (DE-627)DOAJ079781802 (DE-599)DOAJ9e7c960e44b24c63a75d818adbe4569a DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Deborah H. Im verfasserin aut Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of <i<BAP1</i< and <i<GNAQ</i< genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0/11 post-radiation choroidal and 6/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). <i<BAP1</i< or <i<GNAQ</i< variants were detected in 3/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM. aqueous humor circulating-tumor DNA liquid biopsy uveal melanoma Biology (General) Chemistry Chen-Ching Peng verfasserin aut Liya Xu verfasserin aut Mary E. Kim verfasserin aut Dejerianne Ostrow verfasserin aut Venkata Yellapantula verfasserin aut Moiz Bootwalla verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Rishvanth K. Prabakar verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 23(2022), 11, p 6226 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:23 year:2022 number:11, p 6226 https://doi.org/10.3390/ijms23116226 kostenfrei https://doaj.org/article/9e7c960e44b24c63a75d818adbe4569a kostenfrei https://www.mdpi.com/1422-0067/23/11/6226 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 23 2022 11, p 6226
spelling	10.3390/ijms23116226 doi (DE-627)DOAJ079781802 (DE-599)DOAJ9e7c960e44b24c63a75d818adbe4569a DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Deborah H. Im verfasserin aut Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of <i<BAP1</i< and <i<GNAQ</i< genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0/11 post-radiation choroidal and 6/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). <i<BAP1</i< or <i<GNAQ</i< variants were detected in 3/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM. aqueous humor circulating-tumor DNA liquid biopsy uveal melanoma Biology (General) Chemistry Chen-Ching Peng verfasserin aut Liya Xu verfasserin aut Mary E. Kim verfasserin aut Dejerianne Ostrow verfasserin aut Venkata Yellapantula verfasserin aut Moiz Bootwalla verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Rishvanth K. Prabakar verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 23(2022), 11, p 6226 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:23 year:2022 number:11, p 6226 https://doi.org/10.3390/ijms23116226 kostenfrei https://doaj.org/article/9e7c960e44b24c63a75d818adbe4569a kostenfrei https://www.mdpi.com/1422-0067/23/11/6226 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 23 2022 11, p 6226
allfields_unstemmed	10.3390/ijms23116226 doi (DE-627)DOAJ079781802 (DE-599)DOAJ9e7c960e44b24c63a75d818adbe4569a DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Deborah H. Im verfasserin aut Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of <i<BAP1</i< and <i<GNAQ</i< genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0/11 post-radiation choroidal and 6/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). <i<BAP1</i< or <i<GNAQ</i< variants were detected in 3/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM. aqueous humor circulating-tumor DNA liquid biopsy uveal melanoma Biology (General) Chemistry Chen-Ching Peng verfasserin aut Liya Xu verfasserin aut Mary E. Kim verfasserin aut Dejerianne Ostrow verfasserin aut Venkata Yellapantula verfasserin aut Moiz Bootwalla verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Rishvanth K. Prabakar verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 23(2022), 11, p 6226 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:23 year:2022 number:11, p 6226 https://doi.org/10.3390/ijms23116226 kostenfrei https://doaj.org/article/9e7c960e44b24c63a75d818adbe4569a kostenfrei https://www.mdpi.com/1422-0067/23/11/6226 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 23 2022 11, p 6226
allfieldsGer	10.3390/ijms23116226 doi (DE-627)DOAJ079781802 (DE-599)DOAJ9e7c960e44b24c63a75d818adbe4569a DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Deborah H. Im verfasserin aut Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of <i<BAP1</i< and <i<GNAQ</i< genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0/11 post-radiation choroidal and 6/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). <i<BAP1</i< or <i<GNAQ</i< variants were detected in 3/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM. aqueous humor circulating-tumor DNA liquid biopsy uveal melanoma Biology (General) Chemistry Chen-Ching Peng verfasserin aut Liya Xu verfasserin aut Mary E. Kim verfasserin aut Dejerianne Ostrow verfasserin aut Venkata Yellapantula verfasserin aut Moiz Bootwalla verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Rishvanth K. Prabakar verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 23(2022), 11, p 6226 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:23 year:2022 number:11, p 6226 https://doi.org/10.3390/ijms23116226 kostenfrei https://doaj.org/article/9e7c960e44b24c63a75d818adbe4569a kostenfrei https://www.mdpi.com/1422-0067/23/11/6226 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 23 2022 11, p 6226
allfieldsSound	10.3390/ijms23116226 doi (DE-627)DOAJ079781802 (DE-599)DOAJ9e7c960e44b24c63a75d818adbe4569a DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Deborah H. Im verfasserin aut Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of <i<BAP1</i< and <i<GNAQ</i< genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0/11 post-radiation choroidal and 6/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). <i<BAP1</i< or <i<GNAQ</i< variants were detected in 3/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM. aqueous humor circulating-tumor DNA liquid biopsy uveal melanoma Biology (General) Chemistry Chen-Ching Peng verfasserin aut Liya Xu verfasserin aut Mary E. Kim verfasserin aut Dejerianne Ostrow verfasserin aut Venkata Yellapantula verfasserin aut Moiz Bootwalla verfasserin aut Jaclyn A. Biegel verfasserin aut Xiaowu Gai verfasserin aut Rishvanth K. Prabakar verfasserin aut Peter Kuhn verfasserin aut James Hicks verfasserin aut Jesse L. Berry verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 23(2022), 11, p 6226 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:23 year:2022 number:11, p 6226 https://doi.org/10.3390/ijms23116226 kostenfrei https://doaj.org/article/9e7c960e44b24c63a75d818adbe4569a kostenfrei https://www.mdpi.com/1422-0067/23/11/6226 kostenfrei https://doaj.org/toc/1661-6596 Journal toc kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 23 2022 11, p 6226
language	English
source	In International Journal of Molecular Sciences 23(2022), 11, p 6226 volume:23 year:2022 number:11, p 6226
sourceStr	In International Journal of Molecular Sciences 23(2022), 11, p 6226 volume:23 year:2022 number:11, p 6226
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	aqueous humor circulating-tumor DNA liquid biopsy uveal melanoma Biology (General) Chemistry
isfreeaccess_bool	true
container_title	International Journal of Molecular Sciences
authorswithroles_txt_mv	Deborah H. Im @@aut@@ Chen-Ching Peng @@aut@@ Liya Xu @@aut@@ Mary E. Kim @@aut@@ Dejerianne Ostrow @@aut@@ Venkata Yellapantula @@aut@@ Moiz Bootwalla @@aut@@ Jaclyn A. Biegel @@aut@@ Xiaowu Gai @@aut@@ Rishvanth K. Prabakar @@aut@@ Peter Kuhn @@aut@@ James Hicks @@aut@@ Jesse L. Berry @@aut@@
publishDateDaySort_date	2022-01-01T00:00:00Z
hierarchy_top_id	316340715
id	DOAJ079781802
language_de	englisch
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callnumber-first	Q - Science
author	Deborah H. Im
spellingShingle	Deborah H. Im misc QH301-705.5 misc QD1-999 misc aqueous humor misc circulating-tumor DNA misc liquid biopsy misc uveal melanoma misc Biology (General) misc Chemistry Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma
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topic_title	QH301-705.5 QD1-999 Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma aqueous humor circulating-tumor DNA liquid biopsy uveal melanoma
topic	misc QH301-705.5 misc QD1-999 misc aqueous humor misc circulating-tumor DNA misc liquid biopsy misc uveal melanoma misc Biology (General) misc Chemistry
topic_unstemmed	misc QH301-705.5 misc QD1-999 misc aqueous humor misc circulating-tumor DNA misc liquid biopsy misc uveal melanoma misc Biology (General) misc Chemistry
topic_browse	misc QH301-705.5 misc QD1-999 misc aqueous humor misc circulating-tumor DNA misc liquid biopsy misc uveal melanoma misc Biology (General) misc Chemistry
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title	Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma
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title_full	Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma
author_sort	Deborah H. Im
journal	International Journal of Molecular Sciences
journalStr	International Journal of Molecular Sciences
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author_browse	Deborah H. Im Chen-Ching Peng Liya Xu Mary E. Kim Dejerianne Ostrow Venkata Yellapantula Moiz Bootwalla Jaclyn A. Biegel Xiaowu Gai Rishvanth K. Prabakar Peter Kuhn James Hicks Jesse L. Berry
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author-letter	Deborah H. Im
doi_str_mv	10.3390/ijms23116226
author2-role	verfasserin
title_sort	potential of aqueous humor as a liquid biopsy for uveal melanoma
callnumber	QH301-705.5
title_auth	Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma
abstract	Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of <i<BAP1</i< and <i<GNAQ</i< genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0/11 post-radiation choroidal and 6/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). <i<BAP1</i< or <i<GNAQ</i< variants were detected in 3/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM.
abstractGer	Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of <i<BAP1</i< and <i<GNAQ</i< genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0/11 post-radiation choroidal and 6/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). <i<BAP1</i< or <i<GNAQ</i< variants were detected in 3/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM.
abstract_unstemmed	Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of <i<BAP1</i< and <i<GNAQ</i< genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0/11 post-radiation choroidal and 6/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). <i<BAP1</i< or <i<GNAQ</i< variants were detected in 3/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM.
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container_issue	11, p 6226
title_short	Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma
url	https://doi.org/10.3390/ijms23116226 https://doaj.org/article/9e7c960e44b24c63a75d818adbe4569a https://www.mdpi.com/1422-0067/23/11/6226 https://doaj.org/toc/1661-6596 https://doaj.org/toc/1422-0067
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