DNA ploidy and S-phase fraction as prognostic factors in patients with uveal melanomas

Karlsson, Matts; Boeryd, B; Carstensen, John; Kågedal, Bertil; Wingren, Sten

doi:10.1038/bjc.1995.36

Cited by 16 publications

(3 citation statements)

References 23 publications

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“…In another study of 52 UMs, only one tumor showed microsatellite instability (Cross et al., 2003). In two independent studies that examined a total of 180 primary UMs, about two‐thirds were diploid, only one‐third demonstrated aneuploidy (which was usually limited to a few specific chromosomal changes), and only 2% were tetraploid (Coleman et al., 1995; Karlsson et al., 1995). Thus, the recurring chromosomal abnormalities in UM discussed below are likely to be specific to tumor progression rather than random events.…”

Section: Chromosomal Alterationsmentioning

confidence: 99%

The genetics of uveal melanoma: an emerging framework for targeted therapy

Harbour

2012

Pigment Cell Melanoma Res

160

154

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Summary Uveal melanoma is the second most common form of melanoma and the most common primary intraocular malignancy. Until recently, very little was known about the genetics of this aggressive cancer. Mutations in oncogenes and tumor suppressors that are common in other cancers are conspicuously absent in uveal melanoma. In recent years, however, uveal melanoma has begun to yield its secrets, and a fascinating picture is emerging of how it develops and progresses. Mutations in the Gq alpha subunits, encoded by GNAQ and GNA11, appear to be early or perhaps initiating events that require further mutations for malignant transformation. On the other hand, mutations in the BRCA1-associated protein-1 (BAP1) appear to occur later and demarcate a molecular brink beyond which metastasis becomes highly likely. BAP1 mutations can also occur in the germline, leading to a distinctive cancer predisposition syndrome. These mutations appear to be key events that provide the potential for targeted therapy. This article will review the genetic findings in uveal melanoma over the past two decades and suggest important areas for future work.

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Section: Chromosomal Alterationsmentioning

confidence: 99%

The genetics of uveal melanoma: an emerging framework for targeted therapy

Harbour

2012

Pigment Cell Melanoma Res

160

154

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“…The ploidy states of UM cells indicate that aneuploidy is associated with epithelioid cell type [7] , [8] . Aneuploidy of UM is a signal for poor clinical prognosis with an increased rate of mortality [9] , [10] , [11] . Subsequent researchers found that loss of chromosome 3 (monosomy 3) and gain of chromosome 8q were associated significantly with high death rates of UM [12] and the loss of 6p was a specific character of primary UM metastases [13] , [14] .…”

Section: Introductionmentioning

confidence: 99%

A Comparative Transcriptomic Analysis of Uveal Melanoma and Normal Uveal Melanocyte

Wan

Zhou

et al. 2011

PLoS ONE

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BackgroundUveal melanoma is the most common primary intraocular tumor in adults in western countries. It is associated with very severe visual morbidity and may lead to distant metastases even after successful treatment of the primary tumor. In order to gain better insight into molecular mechanisms related to tumorigenesis and metastasis of uveal melanoma, we used next-generation sequencing technology (SOLiD, Life Technologies) to acquire global transcriptome alteration between posterior uveal melanoma cells and normal uveal melanocyte.ResultsFrom mRNAs of the cultured uveal melanoma cells and normal uveal melanocytes, we annotated more than 3.7×107 and 2.7×107 sequencing tags based on human Ensembl databases, respectively. For detailed analysis, we chose 5155 well-annotated genes mainly involved in the MAPK signaling pathway, cell cycle, cell adhesion junction, apoptosis, and P53 signaling pathways as well as melanogenesis. In an effort to confirm the authenticity of our sequencing results, we validated twenty-one identically differentially expressed genes by using quantitative real time PCR from cultured cell lines of other posterior uveal melanoma cells and normal uveal melanocytes.ConclusionWe have identified a large number of potentially interesting genes for biological investigation of uveal melanoma. The expression profiling also provides useful resources for other functional genomic and transcriptome studies. These 21 potential genes could discriminate between uveal melanoma cells and normal uveal melanocyte, which may be indicative of tumorigenesis process. Our results further suggest that high-throughput sequencing technology provides a powerful tool to study mechanisms of tumogenesis in the molecular level.

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“…A significant correlation between aneuploidy and epithelioid cell type has been reported2 3 8; other studies indicate similar findings,9 or contradict these findings 4. In this issue of the BJO (p ) Toti et al report conflicting results on the prognostic value of aneuploidy and association of aneuploidy with epithelioid cell type in uveal melanoma.…”

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confidence: 95%