Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma
Abstract
:1. Introduction
2. Results
2.1. Patient Clinical Characteristics and Demographics
2.2. Evaluation of AH Nucleic Acid Content before and after Brachytherapy Radiation
2.3. Circulating Tumor DNA in AH
3. Discussion
4. Materials and Methods
4.1. Patient and Specimen Characteristics
4.2. Specimen Collection and Storage
4.3. Analysis of Nucleic Acid Content in the AH
4.4. Genomic Analysis of Samples
4.5. Single Nucleotide Variants (SNV) Analysis of Samples
4.6. Statistical Analysis
5. Conclusions
6. Patents
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Acknowledgments
Conflicts of Interest
References
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Characteristic | Choroidal, n = 12 | Ciliary Body Tumor, n = 8 | p-Value | |
---|---|---|---|---|
Gender, n (%) | 0.197 | |||
Females | 5 (41.7) | 6 (75.0) | ||
Males | 7 (58.3) | 2 (25.0) | ||
Eye, n (%) | 0.650 | |||
OD | 5 (41.7) | 5 (62.5) | ||
OS | 7 (58.3) | 3 (37.5) | ||
Age at diagnosis, mean (± SD) | 60.8 (12.5) | 54.0 (15.5) | 0.438 | |
Eye Color, n (%) | 0.999 | |||
Light (blue, gray, green, hazel) | 8 (66.7) | 6 (75.0) | ||
Dark (brown) | 4 (33.3) | 2 (25.0) | ||
Ciliary Body Involvement, n (%) | <0.001 | |||
Yes | 0 (0) | 8 (100) | ||
No | 12 (100) | 0 (0) | ||
AJCC Stage, n (%) | 0.003 | |||
I | 9 (75.0) | 1 (12.5) | ||
IIA | 3 (25.0) | 4 (50.0) | ||
IIB | 0 (0) | 2 (25.0) | ||
IIIA, IIIB, IIIC | 0 (0) | 1 (12.5) | ||
IV | 0 (0) | 0 (0) | ||
PRAME Status, known in 15 cases, n (%) | 0.999 | |||
Negative | 7 (100) | 7 (87.5) | ||
Positive | 0 (0) | 1 (12.5) | ||
GEP Class, known in 15 cases, n (%) | 0.876 | |||
1A | 5 (71.4) | 6 (75.0) | ||
1B | 0 (0) | 0 (0) | ||
2 | 2 (28.6) | 2 (25.0) | ||
Tumor Stage, n (%) | 0.159 | |||
T1 | 9 (75.0) | 4 (50.0) | ||
T2 | 3 (25.0) | 3 (37.5) | ||
T3 | 0 (0) | 1 (12.5) | ||
T4 | 0 (0) | 0 (0) |
Sample | BAP1 (VAF%) | GNAQ (VAF%) |
---|---|---|
ciliary body tumor | ||
UM_005_Tumor | NA | NA |
UM_005_AH | ND | c.626A > T (42.9) |
UM_007_Tumor | ND | c.626A > T (23.2) |
UM_007_AH | ND | c.626A > T (40.9) |
UM_012_Tumor | ND | c.626A > T (53.0) |
UM_012_AH | ND | ND |
UM_013_Tumor | c.830_831del (68.0) | ND |
UM_013_AH | c.830_831del (81.8) | ND |
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Im, D.H.; Peng, C.-C.; Xu, L.; Kim, M.E.; Ostrow, D.; Yellapantula, V.; Bootwalla, M.; Biegel, J.A.; Gai, X.; Prabakar, R.K.; et al. Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma. Int. J. Mol. Sci. 2022, 23, 6226. https://doi.org/10.3390/ijms23116226
Im DH, Peng C-C, Xu L, Kim ME, Ostrow D, Yellapantula V, Bootwalla M, Biegel JA, Gai X, Prabakar RK, et al. Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma. International Journal of Molecular Sciences. 2022; 23(11):6226. https://doi.org/10.3390/ijms23116226
Chicago/Turabian StyleIm, Deborah H., Chen-Ching Peng, Liya Xu, Mary E. Kim, Dejerianne Ostrow, Venkata Yellapantula, Moiz Bootwalla, Jaclyn A. Biegel, Xiaowu Gai, Rishvanth K. Prabakar, and et al. 2022. "Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma" International Journal of Molecular Sciences 23, no. 11: 6226. https://doi.org/10.3390/ijms23116226