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New research links specific inherited genetic differences to an increased risk for eye (uveal) melanoma, a rare form of melanoma that arises from pigment cells that determine eye color. scientists report the first evidence of a strong association between genes linked to eye color and development of uveal melanoma. Reported data suggests that inherited genetic factors associated with eye and skin pigmentation could increase a person’s risk for uveal melanoma.

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BAP1 is a histone deubiquitinase that acts as a tumor and metastasis suppressor associated with disease progression in human cancer. We have used the “Calling Card System” of transposase-directed transposon in…

Source: BMC Medical GenomicsCategory: Genetics & Stem Cells Authors: Tags: Research article Source Type: research

AbstractPurposeUveal melanoma, although a rare form of cancer, is the most common primary malignancy of the eye in adults. Nuclear factor- κB (NF-κB) is a transcription factor that transactivates genes involved in the regulation of cell growth, apoptosis, angiogenesis, and metastasis, but the molecular mechanisms that negatively regulate NF-κB activation are not fully understood. NF-κB can also be activated by DNA damage pathway th rough NEMO protein. Therefore, the objective of this study is to elucidate the role of NEMO/IKKγ protein in uveal melanoma patients.MethodsSeventy-five formalin-fix…

Metastatic uveal melanoma (MUM) has a poor prognosis, with no established standard of care. Delineation of prognostic factors in MUM patients may enable stratified treatment algorithms of stage-specific survival. Overall, 132 MUM patients who presented to a single tertiary institution in Toronto, Canada, over 12 years were identified and data (demographics, clinical status, radiographic images, and laboratory values) were extracted. Associations with systemic first-line treatment outcome 12 weeks after first-line treatment, time to progression (TTP), and overall survival (OS) were explored by univariate and multivariable a…

Source: Melanoma ResearchCategory: Cancer & Oncology Tags: ORIGINAL ARTICLES: Clincal research Source Type: research

CONCLUSIONS: This is the first study to report that THBS2 may play important roles in UM progression and might be a novel prognosis biomarker for UM.
PMID: 30338785 [PubMed – in process]

Condition:   Uveal Melanoma Interventions:   Radiation: Stereotactic Body Radiation Therapy;   Biological: Ziv-Aflibercept Sponsors:   Sidney Kimmel Cancer Center at Thomas Jefferson University;   Regeneron Pharmaceuticals Not yet recruiting

Source: ClinicalTrials.govCategory: Research Source Type: clinical trials

ABSTRACT Uveal melanoma is the most common adult primary intraocular cancer. Although liver metastasis is common to the natural history of the disease, metastasis to the fellow eye is extremely rare. Here we report the case of a 59-year-old man with choroidal melanoma in his right eye who underwent enucleation at a different center. The patient was referred to our service 21 months postoperatively, complaining of decreased vision. He was found to have a new pigmented choroidal tumor in his left eye associated with liver disease. Ocular ultrasonography and liver biopsy with histopathological and immunohistochemical analysis…

ConclusionGiven the lack of knowledge regarding the clinical relevance of the variants identified in this UM cohort and their likely pathogenic nature in other cancers, further studies of the functional impact of these variant mutations are warranted to establish possible previously, undescribed roles in UM pathogenesis, which may provide additional targets for future therapies.

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