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Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

ABSTRACT: Uveal melanoma(UM) is the most common primary intraocular malignancy in adults. However, the incidence of UM in Asia is 10 to 20 times less than in Western populations. Therefore, for the first time, we report our whole exome sequencing (WES) data analysis to discover differences in the molecular features of Asian and Western UM, and to determine the disparities between the primary tumor before brachytherapy and enucleated samples after brachytherapy. WES of 19 samples (13 primary tumors, 5 enucleation samples after brachytherapy, and 1 liver metastasis) from 13 patients diagnosed with UM and treated between 2007 and 2019 at the Yonsei University Health System (YUHS) were analyzed using bioinformatics pipelines. We identified significantly altered genes in Asian UM and changes in mutational profiles before and after brachytherapy using various algorithms. GNAQ, BAP1, GNA11, SF3B1 and CYSLTR2 were significantly mutated in Asian UM, which is similar that reported frequently in previous Western-based UM studies. There were also similar copy number alterations (M3, 1p loss, 6p gain, 8q gain) in both groups. In paired comparisons of the same patients, DICER1 and LRP1B were distinctly mutated only in tumor samples obtained after brachytherapy using rare-variant association tests (P = 0.01, 0.01, respectively). The mutational profiles of Asian UM were generally similar to the data from previous Western-based studies. DICER1 and LRP1B were newly mutated genes with statistical significance in the regrowth samples after brachytherapy compared to the primary tumors, which may be related to resistance to brachytherapy.

SUBMITTER: Lee WS

PROVIDER: S-EPMC8452742 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:IntroductionUveal melanoma (UM) is the most common intraocular malignancy in adults. Plaque brachytherapy remains the dominant eyeball-conserving therapy for UM. Tumor regression in UM after plaque brachytherapy has been reported as a valuable prognostic factor. The present study aimed to develop an accurate machine-learning model to predict the 4-year risk of metastasis and death in UM based on ocular ultrasound data.Material and methodsA total of 454 patients with UM were enrolled in this retrospective, single-center study. All patients were followed up for at least 4 years after plaque brachytherapy and underwent ophthalmologic evaluations before the therapy. B-scan ultrasonography was used to measure the basal diameters and thickness of tumors preoperatively and postoperatively. Random Forest (RF) algorithm was used to construct two prediction models: whether a patient will survive for more than 4 years and whether the tumor will develop metastasis within 4 years after treatment.ResultsOur predictive model achieved an area under the receiver operating characteristic curve (AUC) of 0.708 for predicting death using only a one-time follow-up record. Including the data from two additional follow-ups increased the AUC of the model to 0.883. We attained AUCs of 0.730 and 0.846 with data from one and three-time follow-up, respectively, for predicting metastasis. The model found that the amount of postoperative follow-up data significantly improved death and metastasis prediction accuracy. Furthermore, we divided tumor treatment response into four patterns. The D(decrease)/S(stable) patterns are associated with a significantly better prognosis than the I(increase)/O(other) patterns.ConclusionsThe present study developed an RF model to predict the risk of metastasis and death from UM within 4 years based on ultrasound follow-up records following plaque brachytherapy. We intend to further validate our model in prospective datasets, enabling us to implement timely and efficient treatments.

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Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

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