Cytogenetic Abnormalities in Uveal Melanoma Based on Tumor Features and Size in 1059 Patients

“…Monosomy 3 is known to be associated with clinicopathologic features indicative of a poor prognosis, such as large tumour diameter, ciliary body involvement, epithelioid melanoma cytomorphology (Scholes et al 2003;Damato et al 2007;Shields et al 2017) and inflammation (Maat et al 2008;Bronkhorst et al 2012). Nevertheless, monosomy 3 is also predictive of metastatic death independent of clinicopathologic factors (Damato et al 2007) and has been shown to be superior to clinicopathologic factors as a prognostic indicator (Prescher et al 1996;McNamara et al 1997;Kilic et al 2006).…”

Section: Chromosome Alterationsmentioning

confidence: 99%

Genetic prognostication in uveal melanoma

Doğrusöz

Jager

2017

Acta Ophthalmologica

View full text Add to dashboard Cite

Uveal melanoma (UM) is a rare tumour with a high propensity to metastasize. Although no effective treatment for metastases yet exists, prognostication in UM is relevant for patient counselling, planning of follow-up and stratification in clinical trials. Besides conventional clinicopathologic characteristics, genetic tumour features with prognostic significance have been identified. Non-random chromosome aberrations such as monosomy 3 and gain of chromosome 8q are strongly correlated with metastatic risk, while gain of chromosome 6p indicates a low risk. Recently, mutations in genes such as BAP1, SF3B1 and EIF1AX have been shown to be related to patient outcome. Genetics of UM is a rapidly advancing field, which not only contributes to the understanding of the pathogenesis of this cancer, but also results in further refinement of prognostication. Concomitantly, advances have been made in the use of genetic tests. New methods for genetic typing of UM have been developed. Despite the considerable progress made recently, many questions remain, such as those relating to the reliability of prognostic genetic tests, and the use of biopsied or previously irradiated tumour tissue for prognostication by genetic testing. In this article, we review genetic prognostic indicators in UM, also comparing available genetic tests, addressing the clinical application of genetic prognostication and discussing future perspectives for improving genetic prognostication in UM.

show abstract

“…Research still lacks clarity on whether different treatment methods impact psychosocial well-being [10,12,[14][15][16][17][18][19][20][21]. This is important, especially if specific treatments can be interrelated with the nature of the tumor or a certain diagnosis [7,46,47]. In our study, we controlled for enucleation to adjust for potential impairments associated with this treatment (loss of eye and sight, cosmetic changes etc.…”

Section: Psychological Distress and Utilization Of Psychooncological mentioning

confidence: 99%

Psychosocial impact of prognostic genetic testing in uveal melanoma patients: a controlled prospective clinical observational study

et al. 2020

View full text Add to dashboard Cite

Background: The risk of metastases in uveal melanoma can accurately be estimated through genetic analysis of the tumor. A growing number of patients decide to receive information on their prognosis, although this can be extremely burdensome. Studies on the psychosocial impact of testing are sparse. The objective of this study was to examine traits of patients opting for prognostication, to investigate its psychosocial impact and the use of psychooncological services over time. We further examined characteristics of patients utilizing these services and risk factors of prolonged psychological distress. Design and methods: This study is a non-randomized controlled prospective clinical observational trial. Patients availing for prognostication formed the test group, while those who opted out constituted the observational group. The psychosocial impact of genetic testing was assessed with the following variables: resilience, social support, fear of tumor progression, depression, general distress, health-related quality of life, estimation of the perceived risk, and the utilization of psycho-oncological interventions. Data were assessed at five different time points over a period of 12 months. We applied binary logistic regression analysis, multiple linear regressions and a mixed model. Results: Of 175 patients, 63 decided to obtain prognostic information. Treatment method (enucleation > brachytherapy), lower social support and higher general distress could significantly predict patient's choice for prognostic testing. After result announcement, perceived risk of metastases was significantly increased in patients with poor prognosis, while it decreased in those with good prognosis. Overall, a significant decrease over time appeared concerning fear of progression, general distress, depression and anxiety. Mental quality of life increased over time. The utilization of psycho-oncological interventions increased significantly after prognostication; however, this was equivalent in the test and observational groups. Female sex, higher general distress and higher anxiety predicted greater use of psycho-oncological interventions. Discussion: Availing of prognostic testing is not associated with poorer subsequent psychological well-being. It rather may help to alleviate distress and promote a more realistic risk perception. However, psychological support should be available to all patients, independent of prognosis and treatment, especially considering that patients with low social support and high distress increasingly opt for prognostication.

show abstract

Cytogenetic Abnormalities in Uveal Melanoma Based on Tumor Features and Size in 1059 Patients

Cited by 70 publications

References 18 publications

Intraocular biopsy of uveal melanoma Risk assessment and identification of genetic prognostic markers

Intraocular biopsy of uveal melanoma Risk assessment and identification of genetic prognostic markers

Genetic prognostication in uveal melanoma

Psychosocial impact of prognostic genetic testing in uveal melanoma patients: a controlled prospective clinical observational study

Contact Info

Product

Resources

About