Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.
Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.
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DOI：
10.3390/ijms23116226
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发表时间：
2022-06-02
影响因子：
5.6
通讯作者：
Berry, Jesse L.
中科院分区：
文献类型：
--
作者：
Im, Deborah H.;Peng, Chen-Ching;Xu, Liya;Kim, Mary E.;Ostrow, Dejerianne;Yellapantula, Venkata;Bootwalla, Moiz;Biegel, Jaclyn A.;Gai, Xiaowu;Prabakar, Rishvanth K.;Kuhn, Peter;Hicks, James;Berry, Jesse L.
肿瘤活检可以确定转移性葡萄膜黑色素瘤(UM)的预后生物标志物，而房水(AH)液体活检可以作为辅助。这项研究调查了UM眼的AH是否有足够的循环肿瘤DNA(CtDNA)来进行遗传分析。这是一个病例系列，从12只脉络膜黑色素瘤和8只睫状体(CB)黑色素瘤眼中采集37例放疗前或放疗后的AH标本和1例肿瘤冲洗标本。对核酸浓度进行分析。用浅层全基因组测序和Illumina测序检测体细胞拷贝数改变(SCNAs)。对4例放射后AH患者进行了BAP1和GNAQ基因的靶向测序。辐射后AH的DNA和miRNA浓度显著高于辐射前配对样本。照射后11例脉络膜和6/8例CB AH中有0/11和6/8的UM SCNAs高度复发。CB照射后的AH与其配对肿瘤的SCNAs高度一致(r=0.978)。在照射后3/4的AH标本中检测到BAP1或GNAQ变异。AH是UM眼中ctDNA的来源之一，尤其是在放射后CB眼中。首次在AH来源的ctDNA中发现UM SCNAs和突变。提示AH可作为UM的液体活检。
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 BAP1 and GNAQ 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). BAP1 or GNAQ 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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DOI：
10.1146/annurev.pathol.4.110807.092222
发表时间：
2009
期刊：
Annual review of pathology
影响因子：
--
作者：
Lee YS;Dutta A
通讯作者：
Dutta A
影响因子：
8.1
作者：
Decatur CL;Ong E;Garg N;Anbunathan H;Bowcock AM;Field MG;Harbour JW
通讯作者：
Harbour JW
影响因子：
4.2
作者：
Sellam, Alexandre;Desjardins, Laurence;Cassoux, Nathalie
通讯作者：
Cassoux, Nathalie
影响因子：
3.4
作者：
Suesskind, Daniela;Ulmer, Anja;Grisanti, Salvatore
通讯作者：
Grisanti, Salvatore
影响因子：
1.2
作者：
Kim, Mary E.;Xu, Liya;Prabakar, Rishvanth K.;Shen, Lishuang;Peng, Chen-Ching;Kuhn, Peter;Gai, Xiaowu;Hicks, James;Berry, Jesse L.
通讯作者：
Berry, Jesse L.