Genetic Basis and Molecular Mechanisms of Uveal Melanomas
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".
Deadline for manuscript submissions: closed (30 April 2021) | Viewed by 46617
Special Issue Editors
Interests: rare cancers genetics; stem cells microenvironment
Special Issues, Collections and Topics in MDPI journals
Interests: uveal melanoma; sarcoma; genetics; biomarkers; stem cells; targeted therapies
Special Issue Information
Dear Colleagues,
Uveal melanoma (UM) is the most common primary eye tumour of adults. For most patients the primary tumour is effectively controlled with surgical or radio-therapeutic approaches. Unfortunately, about 50% of patients will later present with metastases, usually affecting the liver. The time between treatment of the primary tumour and metastasis ranges from simultaneous presentation to decades later. For many patients however, treatment of the primary tumour is analogous to “closing the door after the horse has bolted”, since the tumour has already spread prior to the removal of the eye.
It is now 30 years since the first publications reported UM as having recurrent abnormalities of chromosomes 1, 3, 6 and 8. These changes are reliable genetic biomarkers of aggressive UM. Their presence detected by a number of methods, and the use of other genetic tests, contribute to the prognostic assessment of UM. In the intervening 30 years however, little headway has been made in understanding the mechanistic control these changes exert. The target genes in the large areas affected have not been fully identified. Even for targets, such as BAP1 there is still much to learn regarding its role in UM. Other mutations, such as those of GNAQ and GNA11, are ubiquitous amongst UM and in combination with additional mutations point to dysregulation of key pathways. UM however remain at odds with many solid tumours, and specifically unlike their cutaneous counterpart, they mainly do not demonstrate high levels of genetic instability. Recent studies combining bioinformatics with additional investigations have contributed to the identification of new targets for exploration and revealed that epigenetic modulation of UM maybe a key driver in their development. The consequences of molecular / cytogenetic changes to the mechanistic regulation of UM is not clearly understood. Equally, studies have shown the perversion in UM of regulatory pathways but the mechanism instigating these changes is again poorly detailed. As a cancer of unmet need, a better understanding of its genetic basis and sequences is essential to improving the treatment of patients with disseminated disease.
This special issue will cover all aspects of the genetic background to UM and the mechanistic consequences. Areas of focus include, but are not limited to, tumour heterogeneity and targeted treatment based on genetic alterations, a better understanding of the DNA Damage response (DDR), and the effect of changes on the mechanisms and control of UM.
Dr. Karen Sisley
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- genetic
- regulatory mechanisms
- heterogeneity
- biomarkers
- DNA repair
- chromosomes
- mutational analysis
- epigenetic
- synthetic lethality
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue polices can be found here.