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UM Cure 2020 Publications

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Small High-Risk Uveal Melanomas Have a Lower Mortality Rate

R Hussain, SE Coupland, H Kalirai, A Taktak, A Eleuteri, BE Damato, C Groenewald, H Heimann

Cancers, 2021

Sunglasses to hide behind may also prevent melanoma of the eyes

Nathalie Dhomen, Piyushkumar A. Mundra, Richard Marais

British Journal of Cancer, 2021

Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution

C Canbezdi, M Tarin, A Houy, D Bellanger, T Popova, MH Stern, S Roman-Roman, S Alsafadi

Computational and Structural Biotechnology Journal, 2021

Cost-utility analysis of a decade of liver screening for metastases using the Liverpool Uveal Melanoma Prognosticator Online (LUMPO)

A Eleuteri, AC Rola, H Kalirai, R Hussain, J Sacco, BE Damato, H Heimann, SE Coupland, AFG Taktak

Computers in Biology and Medicine, 2021

Involvement of mutant and wild-type CYSLTR2 in the development and progression of uveal nevi and melanoma

RJ Nell, NV Menger, GPM Luyten, RM Verdijk, MC Madigan, MJ Jager, PA van der Velden

BMC Cancer, 2021
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Applying Single-Cell Technology in Uveal Melanomas: Current Trends and Perspectives for Improving Uveal Melanoma Metastasis Surveillance and Tumor Profiling

MM Wang, C Chen, MN Lynn, CR Figueiredo, WJ Tan, TS Lim, SE Coupland, ASY Chan

Frontiers in Molecular Biosciences, 2021

Digital PCR-based T Cell Quantification Assisted Deconvolution of the Microenvironment Reveals that Activated Macrophages Drive Tumor Inflammation in Uveal Melanoma

The authors elucidate the importance of studying the tumour´s environment, namely the presence of macrophage originated T-cells in poor prognosis cases.

MJ de Lange, RJ Nell, RN Lalai, M Versluis, ES Jordanova, GPM Luyten, MJ Jager, SH Van der Burg, WH Zoutman, T Van Hall, PA Van der Velden

American Association for Cancer Research, 2018

Recent breakthroughs in metastatic uveal melanoma: a cause for optimism?

The authors discuss future perspectives regarding the treatment of uveal melanoma (UM) and why the therapeutic regimen must be tailored to the biological tumor background.

JJ Sacco, H Kalirai, J Kenyani, CR Figueiredo, JM Coulson, SE Coupland

Future Oncology, 2018

Selumetinib in Combination With Dacarbazine in Patients With Metastatic Uveal Melanoma: A Phase III, Multicenter, Randomized Trial (SUMIT).

In patients with metastatic uveal melanoma, the combination of selumetinib plus dacarbazine had a tolerable safety profile but did not significantly improve PFS compared with placebo plus dacarbazine.

RD Carvajal, S Piperno-Neumann, E Kapiteijn, PB Chapman, S Frank, AM Joshua, JM Piulats, P Wolter, V Cocquyt, B Chmielowski, TRJ Evans, L Gastaud, G Linette, C Berking, J Schachter, MJ Rodrigues, AN Shoushtari, D Clemett, D Ghiorghiu, G Mariani, S Spratt, S Lovick, P Barker, E Kilgour, Z Lai, GK Schwartz, P Nathan

Journal of Clinical Oncology, 2018

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4mutations in hypermutated tumors

This research article may explain the unexpected response to immune checkpoint inhibitors in a few UM patients, opening the door to further clinical research to treat patients with MBD4-deficient tumors. 

MJ Rodrigues, A Houy, S Gardrat, T Popova, A Rampano, L Mobuchon, A Fiévet, RL Barnhill, V Servois, A Mouton, S Dayot, V Raynal, M Galut, M Putterman, S Tick, N Cassoux, S Roman-Roman, FC Bidard, O Lantz, P Mariani, S Piperno-Neumann, MH Stern

None, 2018

Genetic prognostication in uveal melanoma

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.

MJ Jager, M Dogrusöz

Acta Ophthalmologica, 2017

Zebrafish in Translational Cancer Research: Insight into Leukemia, Melanoma, Glioma and Endocrine Tumor Biology

We report on recent advances in using zebrafish as a model in cancer studies—with specific focus on four cancer types—where zebrafish has contributed to novel discoveries or approaches to novel therapies.

AI Idilli, F Precazzini, MC Mione, V Anelli

Genes (Basel), 2017

Genetic evolution of uveal melanoma guides the development of an inflammatory microenvironment

Early changes resulting in gain of chromosome 8q may activate macrophage infiltration, while sequential loss of BAP1 expression seems to drive T cell infiltration in UM.

G Gezgin, TH Van Essen, WGM Kroes, GPM Luyten, PA Van der Velden, V Walter, RM Verdijk, T Van Hall, SH Van der Burg, MJ Jager, M Dogrusöz

Cancer Immunology, Immunotherapy, 2017

A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus

 The CLPTM1L region contains risk alleles for uveal melanoma susceptibility, suggesting that CLPTM1L could play a role in uveal melanoma oncogenesis.

L Mobuchon, A Battistella, C Bardel, G Scelo, A Renoud, A Houy, N Cassoux, M Milder, G Cancel-Tassin, O Delattre, C Besse, A Boland, JF Deleuze, DG Cox, MH Stern

NPJ Genomic Medicine, 2017

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

Combining information on AJCC staging and chromosome 3 and 8q status allows a more accurate prognostication in UM. The prognostic value of the AJCC staging system can be improved by adding information regarding chromosome 3 and 8q status.

M Dogrusöz, M Bagger, SG Van Duinen, WGM Kroes, CA Ruivenkamp, S Bohringer, KK Andersen, GPM Luyten, JF Kiilgaard, MJ Jager

Investigative Ophthalmology & Visual Science, 2017

Selected Publications From Partners and Others

Uveal Melanoma: A European Network to Face the Many Challenges of a Rare Cancer

The authors provide an overview of uveal melanoma keypoints and a list of the main unmet clinical needs.

S Piperno-Neumann, JM Piulats, M Goebeler, I Galloway, I Lugowska, JC Becker, P Vihinen, J Van Calster, T Hadjistilianou, R Proença, JM Caminal, M Rogasik, JY Blay, E Kapiteijn

Cancers, 2019

Treatment of uveal melanoma: where are we now?

In this paper, the authors discuss the various treatments evaluated in the setting of metastatic uveal melanoma. Trough the understanding of uveal melanoma’s biology, immunotherapy efficacy may be improved after priming the tumour from immunologically “cold” to “hot” with a new molecule.

J Yang, DK Manson, BP Marr, RD Carvajal

Ther Adv Med Oncol, 2018

Punctuated evolution of canonical genomic aberrations in uveal melanoma

This study implies that the metastatic proclivity of UM is "set in stone" early in tumor evolution and may explain why advances in primary treatment have not improved survival.

MG Field, MA Durante, H Anbunathan, LZ Cai, CL Decatur, AM Bowcock, S Kurtenbach, JW Harbour

None, 2018

Kinome-wide transcriptional profiling of uveal melanoma reveals new vulnerabilities to targeted therapeutics

Analysis of kinome-wide signalling network dynamics has the potential to reveal actionable drug targets and inhibitors of potential therapeutic benefit for UM patients.

FP Bailey, K Clarke, H Kalirai, H Kenyani, H Shahidipour, F Falciani, JM Coulson, JJ Sacco, SE Coupland, PA Eyers

Pigment Cell & Melanoma Research, 2017

Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma

Study resulting from a Rare Tumour Project of The Cancer Genome Atlas (TCGA) Project where a molecular taxonomy of four clinical subsets of uveal melanoma (UM) subtypes is identified.

AG Robertson, J Shih, C Yau, EA Gibb, J Oba, KL Mungall, JM Hess, V Uzunangelov, V Walter, L Danilova, TM Lichtenberg, M Kucherlapati, PK Kimes, M Tang, A Penson, R Akbani, CA Bristow, KA Hoadley, L Iype, MT Chang, TCGA Research Network, AD Cherniack, C Benz, GB Mills, RGW Verhaak, KG Griewank, I Felau, JC Zenklusen, JE Gershenwald, L Schoenfield, AJ Lazar, MH Abdel-Rahman, S Roman-Roman, MH Stern, CM Cebulla, MD Williams, MJ Jager, SE Coupland, B Esmaeli, C Kandoth, SE Woodman, O Babur

Cancer Cell, 2017

Prognostic biopsy of choroidal melanoma: an optimised surgical and laboratory approach

Improved surgical techniques and laboratory methods yielded successful cytology and genetic information in 99% and 89% of cases, respectively.

M Angi, H Kalirai, A Taktak, R Hussain, C Groenewald, BE Damato, H Heimann, SE Coupland

British Journal of Ophthalmology, 2017

PRAME as a Potential Target for Immunotherapy in Metastatic Uveal Melanoma

The finding that PRAME-specific T cells in this study reacted against PRAME-positive UM cell lines suggests a potential role for PRAME-directed immunotherapy for selected patients with metastatic UM.

G Gezgin, SJ Luk, J Cao, DM Van der Steen, RS Hagedoorn, D Krijgsman, PA Van der Velden, MG Field, GPM Luyten, K Szuhai, JW Harbour, ES Jordanova, MHM Heemskerk, MJ Jager, M Dogrusöz

JAMA Ophthalmology, 2017

RasGRP3 Mediates MAPK Pathway Activation in GNAQ Mutant Uveal Melanoma

The findings nominate RasGRP3 as a therapeutic target for cancers driven by oncogenic GNAQ/11.

X Cheng, Q Wu, P Depeille, P Cheng, S Thornton, H Kalirai, SE Coupland, JP Roose, BC Bastian

Cancer Cell, 2017

External Validation of the Liverpool Uveal Melanoma Prognosticator Online

This paper validates the Liverpool Uveal Melanoma Prognosticator Online (LUMPO) in a cohort of patients treated at the University of California-San Francisco (UCSF).

SW DeParis, A Taktak, A Eleuteri, W Enanoria, H Heimann, SE Coupland, BE Damato

Investigative Ophthalmology & Visual Science, 2016

Minimal contribution of ERK1/2-MAPK signalling towards the maintenance of oncogenic GNAQQ209P-driven uveal melanomas in zebrafish

Weak correlation between oncogenic GNAQQ209P mutation and sustained ERK1/2-MAPK activation.

MA Mouti, C Dee, SE Coupland, AF Hurlstone

Oncotarget, 2016

Inflammatory cell infiltrates in advanced metastatic uveal melanoma

This paper examines the presence and distribution of umor-associated macrophages (TAMs) and infiltrating T lymphocytes (TILs) in mUM within the liver.

Y Krishna, C McCarthy, H Kalirai, SE Coupland

Human Pathology, 2016

Uveal melanoma cells are resistant to EZH2 inhibition regardless of BAP1 status

These results strongly argue against generalizing the observations made in mesothelioma to all cancer syndromes with BAP1 deficiencies.

M Schoumacher, S Le Corre, A Houy, E Mulugeta, MH Stern, S Roman-Roman, R Margueron

Nature Medicine, 2016

Protein Tyrosine Phosphatase 4A3 (PTP4A3) Promotes Human Uveal Melanoma Aggressiveness Through Membrane Accumulation of Matrix Metalloproteinase 14 (MMP14)

These findings suggest that PTP4A3-related subcellular localization of MMP14 is an important event in metastasis induction.

S Maacha, O Anezo, M Foy, G Liot, L Mery, C Laurent, X Sastre-Garau, S Piperno-Neumann, N Cassoux, N Planque, S Saule

Investigative Ophthalmology & Visual Science, 2016

Radiofrequency ablation and surgical resection of liver metastases from uveal melanoma

RFA can be used to treat liver metastases to spare the hepatic parenchyma. RFA ± liver surgery and liver surgery alone demonstrate similar survival times.

P Mariani, MM Almubarak, M Kollen, M Wagner, C Plancher, R Audollent, S Piperno-Neumann, N Cassoux, V Servois

European Journal of Surgical Oncology, 2016

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

This study provides a better understanding of the mechanisms underlying splicing alterations induced by mutant SF3B1 in cancer, and reveals a role for alternative branchpoints in disease.

S Alsafadi, A Houy, A Battistella, T Popova, M Wassef, E Henry, F Tirode, A Constantinou, S Piperno-Neumann, S Roman-Roman, M Dutertre, MH Stern

None, 2016

Therapeutic options in metastatic uveal melanoma

Molecular and chromosomal classification strongly predicting metastatic death has to be used to identify genetic profiles and pathways involved in the pathogenesis of uveal melanoma leading to new targeted therapeutic strategies.


P Mariani, V Servois, S Piperno-Neumann

Developments in Ophthalmology, 2012

Frequent mutation of BAP1 in metastasizing uveal melanomas

This paper's findings implicate loss of BAP1 in uveal melanoma metastasis and suggest that the BAP1 pathway may be a valuable therapeutic target.

JW Harbour, MD Onken, ED Roberson, S Duan, L Cao, LA Worley, ML Council, KA Matatall, C Helms, AM Bowcock

Science, 2010

Mutations in GNA11 in uveal melanoma

Constitutive activation of the pathway involving the GNAQ or GNA11 genes appears to be a major contributor to the development of uveal melanoma.

CD Van Raamsdonk, KG Griewank, MB Crosby, MC Garrido, S Vemula, T Wiesner, AC Obenauf, W Wackernagel, G Green, N Bouvier, MM Sozen, G Baimukanova, R Roy, A Heguy, I Dolgalev, R Khanin, K Busam, MR Speicher, J O'Brien, BC Bastian

The New England Journal of Medicine, 2010

Establishment and characterization of a panel of human uveal melanoma xenografts derived from primary and/or metastatic tumors

This panel of 16 uveal melanoma xenografts represents a useful preclinical tool for both pharmacologic and biological assessments.

F Nemati, X Sastre-Garau, C Laurent, J Couturier, P Mariani, L Desjardins, S Piperno-Neumann, O Lantz, B Asselain, C Plancher, D Robert, I Peguillet, MH Donnadieu, A Dahmani, MA Bessard, D Gentien, C Reyes, S Saule, E Barillot, S Roman-Roman, D Decaudin

Clinical Cancer Research, 2010

Methylation in uveal melanoma

Epigenetic regulation of tumour suppressor genes provides an attractive mechanism for tumours in which mutations and structural changes are rare.

PA Van der Velden, W Maat

British Journal of Ophthalmology, 2009