Chromosome 3 Status Combined With<i>BAP1</i>and<i>EIF1AX</i>Mutation Profiles Are Associated With Metastasis in Uveal Melanoma

Ewens, Kathryn G.; Kanetsky, Peter A.; Richards‐Yutz, Jennifer; Purrazzella, Juliana; Shields, Carol L.; Ganguly, Tapan; Ganguly, Arupa

doi:10.1167/iovs.14-14550

Cited by 146 publications

(142 citation statements)

References 51 publications

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“…Combined with other data that strongly implicated BAP1 mutations occured later in UM progression and as a key event in the acquisition of metastatic competence in UM patients [22]. The Similar outcome presented by Ewens KG and his team in 2014 [21]. A deeper understanding of BAP1 mutation mentioned by Serdar Yavuzigitolu in 2016, Patients without BAP1 mutation would be diagnosed at the oldest age (mean, 66.9 years) [23] and BAP1 deficiency was still the most significant prognostic predictor of metastasis in patients with polyploidy UM karyotype [7].…”

Section: Um Patients' Prognosis With Genetic Aberrations Um Patients supporting

confidence: 72%

“…This theory had supported by Ewens KG [21]. More relative evidences presented in Martin M's study, he divided two distinct classes based on gene expression profiles and chromosome 3, EIF1AX mutations in 16 of 66 UM (24%), 15 of 31 UM with disomy 3 (48%) which rarely metastasize and 1 of 35 UM with monosomy 3 (3%) which were associated with bad prognosis [24].…”

Section: Um Patients With Ef1ax Mutationmentioning

confidence: 86%

“…From 1990 to 2013, Ewens KG with his team studied the prognostic relevance in these UM somatic mutations of BAP1, SF3B1, EIF1AX, GNAQ, and GNA11,116 patients had been detected. Combined with the recent years' assumption, they believed BAP1 mutation (OR 6.3, 95% CI 2.7-14.4) was positively associated with the presence of metasitasis [21]. J. William Harbour had also tried to search for the metastaticrelated mutations in highly metastatic UM during that time, He identified a susceptibility allele 26 of 31 (84%) metastasizing tumors with BAP1 mutation on chromosome 3p21.1.…”

Section: Um Patients' Prognosis With Genetic Aberrations Um Patients mentioning

confidence: 99%

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Karyotype aberrations and gene mutations characteristics correlated it with UM prognosis

Mao¹,

Bin²

2017

New Front Ophthalmol

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Researchers tried to determined it whether the prognostic of the high incidence karyotype aberrations and gene mutations that had been displayed in uveal melanoma patients. Such as what the prognosis usually was about UM patients with loss of chromosome 3 (monosomy 3), polyploidy (>2N) or gain of chromosome 8q that were combined with/without the main gene mutations of BAP1 (BRCA-associated protein 1), EIF1AX (eukaryotic translation factor 1A), GNAQ (Guanine nucleotidebinding protein, q polypeptide), GNA11 (Guanine nucleotide-binding protein, subunit alpha-11) and SF3B1 (splicing factor 3 subunit B1). Through the literatures of recent years, researchers had suggested aberration of karyotypes and mutation of genes were both made in patients with different prognostic results than we had anticipated but allowed us to reassure patients with a good prognosis.

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Section: Um Patients' Prognosis With Genetic Aberrations Um Patients supporting

confidence: 72%

Section: Um Patients With Ef1ax Mutationmentioning

confidence: 86%

Section: Um Patients' Prognosis With Genetic Aberrations Um Patients mentioning

confidence: 99%

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Karyotype aberrations and gene mutations characteristics correlated it with UM prognosis

Mao¹,

Bin²

2017

New Front Ophthalmol

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“…Follow-up was last updated in February 2016. In the Danish cohort, all patients were offered a physical examination, liver function tests, radiography of the thorax, and liver ultrasonography at 3,6,12,18,24,30,36,48,60,84, and 120 months posttreatment. Magnetic resonance imaging (MRI) or a computed tomography (CT) scan was performed when metastatic spread was suspected.…”

Section: Methods Patientsmentioning

confidence: 99%

The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status

Doğrusöz

Bagger

Duinen

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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Citation: Dogrusöz M, Bagger M, van Duinen SG, et al. The prognostic value of AJCC staging in uveal melanoma is enhanced by adding chromosome 3 and 8q status. Invest Ophthalmol Vis Sci. 2017;58:833-842. DOI:10.1167/ iovs.16-20212 PURPOSE. The American Joint Committee on Cancer (AJCC) staging system has been validated for use as a prognostic parameter in uveal melanoma (UM). We studied whether adding information regarding chromosome 3 and 8q status further enhances the prognostic value of this staging system. METHODS.We retrospectively studied a cohort of 522 patients who had been treated for UM in two different centers between 1999 and 2015. The mean follow-up time was 47.7 months. Cumulative incidence curves were generated and regression analyses were performed for different combinations of AJCC staging and chromosome status. Death due to UM metastases was the primary endpoint.RESULTS. In AJCC stage I cases, only patients with monosomy 3 as well as chromosome 8q gain died due to UM metastases (P < 0.001). Among patients with stage II and III tumors, those with monosomy 3 plus gain of chromosome 8q had the worst prognosis, whereas the clinical outcome of those with only one of these aberrations was intermediate (P < 0.001). Patients without monosomy 3 and 8q gain showed favorable prognosis, independent of their tumor's AJCC stage. In cases with monosomy 3, 8q gain, or both, adding AJCC stage improved the predictive value. Multivariable regression analyses demonstrated that AJCC staging and chromosome 3 and 8q status contain independent information about survival status.CONCLUSIONS. Combining information on AJCC staging and chromosome 3 and 8q status allows a more accurate prognostication in UM. We conclude that the prognostic value of the AJCC staging system can be improved by adding information regarding chromosome 3 and 8q status.

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“…The estimated incidence of UM is 5 per million in the United States, and between 2 to 8 per million in Europe [1] . Despite shared embryologic origin, UM differs from the cutaneous melanoma in biological behavior, epidemiology, prognostic features, and molecular profiles [2,3] . Previous…”

Section: Introductionmentioning

confidence: 99%

Immunological aspect of the liver and metastatic uveal melanoma

Terai¹,

Mastrangleo²,

Sato³

2017

JCMT

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Uveal (eye) melanoma is the most common primary eye malignancy in adults. Despite optimal treatments for primary uveal melanoma, up to 50% of patients subsequently develop systemic metastasis, often in the liver. Once hepatic metastasis develops, the survival of patients is generally short and currently available treatments fail to show meaningful improvement of survival. Recent development of immune checkpoint blockades revolutionized immunotherapy for metastatic cutaneous (skin) melanoma. Unfortunately, metastatic uveal melanoma is unresponsive to this approach, thus there is an unmet need to improve the treatment of metastatic uveal melanoma. One unique characteristic of uveal melanoma is that the majority of metastases first develop in the liver. The liver is highly specialized in development of immune tolerance to food-derived antigens and consequently serves a unique function in the immune system. Understanding the mechanisms by which the liver orchestrates immune-related responses is important to the development of an effective immunotherapy for hepatic metastases such as metastatic uveal melanoma. In this review article, the authors overview the immunological aspects of the liver and discuss approaches to improve immunotherapy for metastatic uveal melanoma. Key words:Uveal melanoma, metastasis, liver, liver microenvironment, immunotherapy ABSTRACTArticle history:

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Chromosome 3 Status Combined WithBAP1andEIF1AXMutation Profiles Are Associated With Metastasis in Uveal Melanoma

Cited by 146 publications

References 51 publications

Karyotype aberrations and gene mutations characteristics correlated it with UM prognosis

Karyotype aberrations and gene mutations characteristics correlated it with UM prognosis

The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status

Immunological aspect of the liver and metastatic uveal melanoma

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