Article
Oncology
Yasemin C. Cole, Yu-Zhi Zhang, Beatrice Gallo, Adam P. Januszewski, Anca Nastase, David J. Essex, Caroline M. H. Thaung, Victoria M. L. Cohen, Mandeep S. Sagoo, Anne M. Bowcock
Summary: A study on 100 uveal melanomas from the UK revealed that loss of nuclear BAP1 (nBAP1) predicts shorter overall survival. Tumors with BAP1 loss of function mutations frequently exhibited heterogeneous BAP1 staining, and tumors with >= 25% loss of nBAP1 were a more reliable prognostic indicator than chromosome 3 loss (LOH3) or chromosome 8q gain. Majority of BAP1 mutations result in loss of nBAP1 and aberrant expression of cBAP1.
Article
Oncology
Zahra Souri, Aart G. Jochemsen, Annemijn P. A. Wierenga, Wilma G. M. Kroes, Rob M. Verdijk, Pieter A. van der Velden, Gregorius P. M. Luyten, Martine J. Jager
Summary: In Uveal Melanoma (UM), increased expression of several HDACs is associated with the loss of chromosome 3. This study found a positive correlation between the expression of HDACs 1, 3, and 8 and T-cell infiltrates, while HDACs 2 and 11 were negatively correlated with macrophages. Furthermore, stimulation with interferon-gamma induced an increase in certain HDACs, suggesting a potential link with the loss of chromosome 3/BAP1 and inflammation in UM.
Article
Multidisciplinary Sciences
Mathieu F. Bakhoum, Jasmine H. Francis, Albert Agustinus, Ethan M. Earlie, Melody Di Bona, David H. Abramson, Mercedes Duran, Ignas Masilionis, Elsa Molina, Alexander N. Shoushtari, Michael H. Goldbaum, Paul S. Mischel, Samuel F. Bakhoum, Ashley M. Laughney
Summary: Researchers found that the progression of uveal melanoma is driven by the loss of Polycomb Repressive Complex 1, leading to chromosomal instability, inflammatory signaling, and migration.
NATURE COMMUNICATIONS
(2021)
Article
Oncology
Zahra Souri, Annemijn P. A. Wierenga, Emine Kilic, Erwin Brosens, Stefan Bohringer, Wilma G. M. Kroes, Robert M. Verdijk, Pieter A. van Der Velden, Gregorius P. M. Luyten, Martine J. Jager
Summary: Specific miRNAs are associated with the inflammatory phenotype in uveal melanoma (UM), with differential expression between disomy 3/BAP1-positive and monosomy 3/BAP1-negative UM. This suggests a potential role for BAP1 loss in regulating HLA expression and inflammation through miRNAs in UM.
Article
Multidisciplinary Sciences
Ogul E. Uner, Thonnie Rose O. See, Eszter Szalai, Hans E. Grossniklaus, Gustav Stalhammar
Summary: The study found that BAP1 mutations in uveal melanoma occur early in tumor growth, typically appearing in the initial stages, and coincide with the seeding of micrometastases.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Mathieu F. Bakhoum, Ellis J. Curtis, Michael H. Goldbaum, Paul S. Mischel
Summary: Assessment of BAP1 methylation is an accurate and readily clinically actionable assay to identify high-risk uveal melanoma patients.
NPJ PRECISION ONCOLOGY
(2021)
Article
Ophthalmology
Karen Aughton, Dorota Sabat-Pospiech, Samantha Barlow, Sarah E. Coupland, Helen Kalirai
Summary: DUSP4 protein expression is not a biomarker of UM metastatic risk. DUSP4 plays a complex role in oncogenesis, as reported in other cancers, and further work is required to fully understand its functional role in the MAPK pathway.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2022)
Article
Oncology
Mizue Terai, Ayako Shimada, Inna Chervoneva, Liam Hulse, Meggie Danielson, Jeff Swensen, Marlana Orloff, Philip B. Wedegaertner, Jeffrey L. Benovic, Andrew E. Aplin, Takami Sato
Summary: Uveal melanoma is driven by G-protein mutations, with a high recurrence rate even after primary treatment. The mutations in GNA11 and GNAQ are associated with survival rates of metastatic uveal melanoma patients.
Article
Oncology
Laura Tabuenca Del Barrio, Luiz Miguel Nova-Camacho, Alicia Zubicoa Eneriz, Inigo Martinez de Espronceda Ezquerro, Alicia Cordoba Iturriagagoitia, Enrique Borque Rodriguez-Maimon, Alfredo Garcia-Layana
Summary: The study identified the importance of BAP1 protein in the prognosis of uveal melanoma, with low nuclear BAP1 immunostaining being associated with high metastasis rates. This technique should become routine in the pathological examination of uveal melanoma to allow adequate classification of patients and establish individual follow-up plans.
Editorial Material
Medicine, General & Internal
Christopher P. P. Long, Nicholas Coley, John Thorson, Jonathan H. H. Lin
Summary: Uveal melanoma is the most common primary ocular tumor in adults and has significant impact through lymphovascular metastasis. Monosomy 3 is a crucial prognostic indicator for metastasis. This study reports two cases of inconsistent results in monosomy 3 testing using fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) in uveal melanoma specimens. These cases highlight the potential benefits of each testing modality and suggest that both methods should be pursued for a comprehensive evaluation.
Article
Biochemistry & Molecular Biology
Svenja Mergener, Jens T. Siveke, Samuel Pena-Llopis
Summary: The study found that monosomy of chromosome 3 (M3) and mutations in BAP1 are associated with higher resistance to MEK inhibitors in uveal melanoma. Reconstitution of BAP1 was unable to restore sensitivity to MEK inhibition. Comparison of UM tumors with mutations in BAP1 and wild-type BAP1 from TCGA showed clear differentiation in overall and progression-free survival.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Anne-Celine Derrien, Manuel Rodrigues, Alexandre Eeckhoutte, Stephane Dayot, Alexandre Houy, Lenha Mobuchon, Sophie Gardrat, Delphine Lequin, Stelly Ballet, Gaelle Pierron, Samar Alsafadi, Odette Mariani, Ahmed El-Marjou, Alexandre Matet, Chrystelle Colas, Nathalie Cassoux, Marc-Henri Stern
Summary: The study identified MBD4 as a new predisposing gene for UM associated with high mutation M3 tumors, leading to increased incidence and high tumor mutation burden in UM. Tumors carrying MBD4 mutations may respond to immunotherapy.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2021)
Article
Biochemistry & Molecular Biology
Anna Han, Vivian Chua, Usman Baqai, Timothy J. Purwin, Nelisa Bechtel, Emily Hunter, Manoela Tiago, Erin Seifert, David W. Speicher, Zachary T. Schug, J. William Harbour, Andrew E. Aplin
Summary: Effective therapeutic options are lacking for uveal melanoma (UM) patients with metastasis. This study identified BRCA1-associated protein 1 (BAP1) mutations as being associated with reprogrammed cell metabolism, potentially providing a therapeutic opportunity for BAP1 mutant UM patients.
Article
Biochemistry & Molecular Biology
Francesco Reggiani, Marianna Ambrosio, Michela Croce, Enrica Teresa Tanda, Francesco Spagnolo, Edoardo Raposio, Mariangela Petito, Zeinab El Rashed, Alessandra Forlani, Ulrich Pfeffer, Adriana Agnese Amaro
Summary: The metastatic risk of uveal melanoma (UM) is determined by limited molecular lesions, somatic mutations, and copy number alterations. BAP1 mutations are always associated with M3 in high-risk patients, while other features such as 6p, 8q, M3, and SF3B1 mutation are present independently. Chr8q gain is frequently associated with chr3 disomy. Gene expression data analysis reveals two clusters, one enriched in metastatic samples with 8q|M3, BAP1|M3, and the other mainly containing low-risk samples with 6p combined with either 8q or SF3B1. Some gene expression events become significant when considering combinations of risk features, indicating additive action. The independence of risk factors supports a random risk model of UM metastasis without an obligatory sequence.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Ophthalmology
Peiwei Chai, Ruobing Jia, Yongyun Li, Chuandi Zhou, Xiang Gu, Ludi Yang, Hanhan Shi, Hao Tian, Huimin Lin, Jie Yu, Ai Zhuang, Shengfang Ge, Renbing Jia, Xianqun Fan
Summary: We reviewed the research findings on epigenetic changes in retinoblastoma (RB) and uveal melanoma (UM). The review summarized epigenetic alterations, including DNA methylation, histone modifications, RNA modifications, noncoding RNAs, and abnormal chromosomal architecture. We elaborated on the regulatory role of these epigenetic modifications in tumorigenesis, and proposed potential therapeutic candidates and updated the list of epigenetic drugs for the treatment of RB and UM. Overall, this review aimed to depict the epigenetic landscape of primary intraocular malignancy tumorigenesis and identify potential epigenetic targets for treatment.
PROGRESS IN RETINAL AND EYE RESEARCH
(2022)
Article
Oncology
Maciej Giefing, Micah D. Gearhart, Markus Schneider, Birte Overbeck, Wolfram Klapper, Sylvia Hartmann, Adam Ustaszewski, Marc A. Weniger, Laura Wiehle, Martin-Leo Hansmann, Ari Melnick, Wendy Beguelin, Christer Sundstrom, Ralf Kuppers, Vivian J. Bardwell, Reiner Siebert
Summary: Loss of BCOR may play a role in the pathogenesis of cHL and the homeostasis of GC-B cells.
LEUKEMIA & LYMPHOMA
(2022)
Review
Cell Biology
Michal S. Lach, Monika A. Rosochowicz, Magdalena Richter, Inga Jagiello, Wiktoria M. Suchorska, Tomasz Trzeciak
Summary: The development of induced pluripotent stem cells has opened up unlimited possibilities for regenerative medicine. This technology can be used to treat skeletal diseases such as osteoarthritis and has the potential to replace current short-term solutions. Additionally, using patient-specific tissue for reprogramming purposes can provide a platform for drug screening and modeling skeletal abnormalities.
Article
Biochemistry & Molecular Biology
Katarzyna Kiwerska, Ewelina Kowal-Wisniewska, Adam Ustaszewski, Ewelina Bartkowiak, Malgorzata Jarmuz-Szymczak, Malgorzata Wierzbicka, Maciej Giefing
Summary: In this study, global DNA methylation profiling was performed to identify epigenetic biomarkers that could distinguish fast-growing and slow-growing salivary gland tumors. A set of CpG markers with high diagnostic accuracy was identified. These epigenetic biomarkers may serve as differentiating factors in the diagnosis of salivary gland tumors, but further validation in a larger cohort is needed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Igor Piotrowski, Katarzyna Kulcenty, Wiktoria Suchorska, Marcin Rucinski, Karol Jopek, Marta Kruszyna-Mochalska, Agnieszka Skrobala, Piotr Romanski, Adam Ryczkowski, Dorota Borowicz, Natalia Matuszak, Julian Malicki
Summary: This study investigated the effects of hypo-fractionated stereotactic body radiation therapy (SBRT) on out-of-field organs in prostate cancer treatment. The results showed higher radiation doses in the intestine and lung, with a small increase in DNA damage and cell killing in the intestines. Gene expression analysis revealed enrichment of radiation response-related biological processes in the prostate, but no clear changes in relevant processes in the lung and thyroid.
Article
Biology
Marta Kruszyna-Mochalska, Agnieszka Skrobala, Piotr Romanski, Adam Ryczkowski, Wiktoria Suchorska, Katarzyna Kulcenty, Igor Piotrowski, Dorota Borowicz, Kinga Graczyk, Natalia Matuszak, Julian Malicki
Summary: The study aimed to determine the influence of a key treatment plan and beam parameters on overall dose distribution and doses in organs far from the target during prostate SBRT. Multiple treatment plans were evaluated, and it was found that modifying radiotherapy technique and parameters can significantly reduce doses in distant organs.
Article
Chemistry, Physical
Pawel Bakun, Beata Czarczynska-Goslinska, Dariusz T. Mlynarczyk, Marika Musielak, Kinga Mylkie, Jolanta Dlugaszewska, Tomasz Koczorowski, Wiktoria M. Suchorska, Marta Ziegler-Borowska, Tomasz Goslinski, Rafal Krakowiak
Summary: This article introduces a method for wound healing and tissue regeneration using titanium(IV) oxide-based nanomaterials. The material was characterized and tested using various methods, and the results showed that the TiO2-GA material has antioxidant properties and can prevent bacterial infections.
Article
Biology
Natalia Matuszak, Marta Kruszyna-Mochalska, Agnieszka Skrobala, Adam Ryczkowski, Piotr Romanski, Igor Piotrowski, Katarzyna Kulcenty, Wiktoria Maria Suchorska, Julian Malicki
Summary: This study determined the out-of-field doses from an electron beam in a phantom model and found a clear decrease in dose as distance and depth increased. The out-of-field doses increased when higher energy electron beams were used. Further research is needed to understand this phenomenon.
Article
Medicine, Research & Experimental
Bartosz Pawel Wojtera, Agnieszka Sobecka, Mateusz Szewczyk, Piotr Machczynski, Wiktoria Maria Suchorska, Wojciech Golusinski
Summary: By analyzing the concentration of CLIC1 protein in plasma, it was found that there was a significant correlation between its presence and lymphatic metastasis in patients with oral squamous cell carcinoma (OSCC), but no difference was observed in patients with laryngeal squamous cell carcinoma (LSCC).
ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Adam Ustaszewski, Julia Paczkowska, Joanna Janiszewska, Stephan H. Bernhart, Julia Bein, Nuria Russinol, Martin-Leo Hansmann, Vicente Chapaprieta, Jose I. Martin-Subero, Reiner Siebert, Sylvia Hartmann, Maciej Giefing
Summary: This study identified potential novel oncomiRs in classic Hodgkin Lymphoma (cHL) cell lines, including two miRNAs expressed together with the TENM2 gene. The open chromatin and hypomethylation of TENM2 gene in cHL cell lines suggest an epigenetic mechanism for the aberrant expression of both the TENM2 gene and the novel miRNA. Although no typical cHL-related ontologies were found, several interesting candidate genes involved in lymphopoiesis were identified.
Article
Pharmacology & Pharmacy
Marika Musielak, Agnieszka Bos-Liedke, Oliwia Piwocka, Katarzyna Kowalska, Roksana Markiewicz, Barbara Szymkowiak, Pawel Bakun, Wiktoria M. Suchorska
Summary: In this study, the role of gold nanoparticles in enhancing the response of breast cancer cells to ionizing radiation was assessed by comparing 2D and 3D models. It was found that the PEG chain plays an important role in the efficiency of gold nanoparticles in sensitizing cells to ionizing radiation, indicating that gold nanoparticles are a promising agent for combined treatment with radiotherapy.
Review
Cell & Tissue Engineering
Monika A. Rosochowicz, Michal S. Lach, Magdalena Richter, Wiktoria M. Suchorska, Tomasz Trzeciak
Summary: This article summarizes the current methods used in osteoarthritis (OA) treatment, highlighting the controversy and strict requirements of cell-based therapies. It also introduces a unique population of stromal cells with a valuable secretome that could improve existing techniques. Importance rating: 8 points.
STEM CELL REVIEWS AND REPORTS
(2023)
Article
Medicine, Research & Experimental
Bartosz Pawel Wojtera, Agnieszka Sobecka, Mateusz Szewczyk, Piotr Machczynski, Wiktoria Maria Suchorska, Wojciech Golusinski
Summary: CLIC1 protein is overexpressed in oral squamous cell carcinoma and not in laryngeal squamous cell carcinoma. The plasma concentration of CLIC1 is significantly correlated with lymphatic metastasis in patients with oral squamous cell carcinoma.
ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE
(2023)