Chromosome 3 Status in Uveal Melanoma: A Comparison of Fluorescence In Situ Hybridization and Single-Nucleotide Polymorphism Array

Singh, Arun D.; Aronow, Mary E.; Sun, Yang; Bebek, Gürkan; Saunthararajah, Yogen; Schoenfield, Lynn; Biscotti, Charles V.; Tubbs, Raymond R.; Triozzi, Pierre L.; Eng, Charis

doi:10.1167/iovs.11-9027

Cited by 36 publications

(32 citation statements)

References 47 publications

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“…Moreover, the location (ciliary vs. choroidal) or initial height of the tumor also had no statistical correlation with the regression rates following radiation therapy. Our results are in agreement with some of the previously reported studies [19,21,23]. …”

Section: Discussionsupporting

confidence: 94%

“…The specimen was immediately taken to the genetics laboratory in special transport media. Evaluation of the specimen was performed by an accredited cytopathologist using the fluorescence in situ hybridization (FISH) technique [15,19]. The minimum number of cells required for cytogenetic analysis was 200 cells; a smaller number of cells was considered to be an inadequate sample.…”

Section: Methodsmentioning

confidence: 99%

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Uveal Melanoma Regression after Brachytherapy: Relationship with Chromosome 3 Monosomy Status

et al. 2016

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Aim: The objective was to evaluate the relationship between the regression rate of ciliary body melanoma and choroidal melanoma after brachytherapy and chromosome 3 monosomy status. Methods: We conducted a prospective and consecutive case series of patients who underwent biopsy and brachytherapy for ciliary/choroidal melanoma. Tumor biopsy performed at the time of radiation plaque placement was analyzed with fluorescence in situ hybridization to determine the percentage of tumor cells with chromosome 3 monosomy. The regression rate was calculated as the percent change in tumor height at months 3, 6, and 12. The relationship between regression rate and tumor location, initial tumor height, and chromosome 3 monosomy (percentage) was assessed by univariate linear regression (R version 3.1.0). Results: Of the 75 patients included in the study, 8 had ciliary body melanoma, and 67 were choroidal melanomas. The mean tumor height at the time of diagnosis was 5.2 mm (range: 1.90-13.00). The percentage composition of chromosome 3 monosomy ranged from 0-20% (n = 35) to 81-100% (n = 40). The regression of tumor height at months 3, 6, and 12 did not statistically correlate with tumor location (ciliary or choroidal), initial tumor height, or chromosome 3 monosomy (percentage). Conclusion: The regression rate of choroidal melanoma following brachytherapy did not correlate with chromosome 3 monosomy status.

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Section: Discussionsupporting

confidence: 94%

Section: Methodsmentioning

confidence: 99%

Uveal Melanoma Regression after Brachytherapy: Relationship with Chromosome 3 Monosomy Status

et al. 2016

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“…94 79,[125][126][127] and singlenucleotide polymorphisms (SNPs). 109,[128][129][130][131][132] The above-mentioned chromosomal alterations in primary UM are clinically relevant because of their correlation with the risk of metastatic death. Chromosome 3 loss is associated with a reduction of the 5-year survival probability from approximately 100% to o50%.…”

Section: Chromosomal Alterations In Primary Ummentioning

confidence: 99%

“…This is confirmed by studies examining UM metastases using FISH, demonstrating that the disseminated tumour cells are characterised by chromosome 3 loss and 8q gain. 109,113 We are currently examining paired primary and metastatic UM using aSNP and functional assays with the aim of identifying signalling pathways that are aberrant within the metastases and, consequently, potential 'druggable targets'.…”

Section: Molecular Alterations In Um Metastasesmentioning

confidence: 99%

Molecular Pathology of Uveal Melanoma

Coupland

Lake

Damato

2014

Clinical Ophthalmic Oncology

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Like other cancers, uveal melanomas (UM) are characterised by an uncontrolled, clonal, cellular proliferation, occurring as a result of numerous genetic, and epigenetic aberrations. Signalling pathways known to be disrupted in UM include: (1) the retinoblastoma pathway, probably as a result of cyclin D1 overexpression; p53 signalling, possibly as a consequence of MDM2 overexpression; and the P13K/AKT and mitogen-activated protein kinase/extracellular signal-related kinase pathway pathways that are disturbed as a result of PTEN and GNAQ/11 mutations, respectively. Characteristic chromosomal abnormalities are common and include 6p gain, associated with a good prognosis, as well as 1p loss, 3 loss, and 8q gain, which correlate with high mortality. These are identified by techniques such as fluorescence in situ hybridisation, comparative genomic hybridisation, microsatellite analysis, multiplex ligationdependent probe amplification, and singlenucleotide polymorphisms. UM can also be categorised by their gene expression profiles as class 1 or class 2, the latter correlating with poor survival, as do BRCA1-associated protein-1 (BAP1) inactivating mutations. Genetic testing of UM has enhanced prognostication, especially when results are integrated with histological and clinical data. The identification of abnormal signalling pathways, genes and proteins in UM opens the way for target-based therapies, improving prospects for conserving vision and prolonging life.

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“…There are only a few reports wherein 2 prognostic tests have been performed on a given tumor sample and results evaluated for concordance (SNP/FISH [2], MLPA/FISH [3], and GEP/SNP) [4]. …”

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confidence: 99%