Article
Multidisciplinary Sciences
Omar Alhalabi, Jianfeng Chen, Yuxue Zhang, Yang Lu, Qi Wang, Sumankalai Ramachandran, Rebecca Slack Tidwell, Guangchun Han, Xinmiao Yan, Jieru Meng, Ruiping Wang, Anh G. Hoang, Wei-Lien Wang, Jian Song, Lidia Lopez, Alex Andreev-Drakhlin, Arlene Siefker-Radtke, Xinqiao Zhang, William F. Benedict, Amishi Y. Shah, Jennifer Wang, Pavlos Msaouel, Miao Zhang, Charles C. Guo, Bogdan Czerniak, Carmen Behrens, Luisa Soto, Vassiliki Papadimitrakopoulou, Jeff Lewis, Waree Rinsurongkawong, Vadeerat Rinsurongkawong, Jack Lee, Jack Roth, Stephen Swisher, Ignacio Wistuba, John Heymach, Jing Wang, Matthew T. Campbell, Eleni Efstathiou, Mark Titus, Christopher J. Logothetis, Thai H. Ho, Jianjun Zhang, Linghua Wang, Jianjun Gao
Summary: This study demonstrates a synthetic lethal interaction between MTAP(def) and antifolates, and shows that MTAP(def) urothelial carcinoma patients have a higher response rate to pemetrexed.
NATURE COMMUNICATIONS
(2022)
Article
Genetics & Heredity
Runyi Jiang, Jinbo Hu, Hongfei Zhou, Haifeng Wei, Shaohui He, Jianru Xiao
Summary: This study developed a prognostic gene signature based on hypoxia-related genes (HRGs) for predicting survival in Ewing sarcoma (EWS) patients. The study also identified potential therapeutic targets and found that targeting specific genes may improve the prognosis of EWS patients.
FRONTIERS IN GENETICS
(2022)
Article
Oncology
Peter Kalev, Marc L. Hyer, Stefan Gross, Zenon Konteatis, Chi-Chao Chen, Mark Fletcher, Max Lein, Elia Aguado-Fraile, Victoria Frank, Amelia Barnett, Everton Mandley, Joshua Goldford, Yue Chen, Katie Sellers, Sebastian Hayes, Kate Lizotte, Phong Quang, Yesim Tuncay, Michelle Clasquin, Rachel Peters, Jaclyn Weier, Eric Simone, Joshua Murtie, Wei Liu, Raj Nagaraja, Lenny Dang, Zhihua Sui, Scott A. Biller, Jeremy Travins, Kevin M. Marks, Katya Marjon
Summary: In MTAP-deleted cancers, potent MAT2A inhibitors were found to reduce SAM levels and decrease PRMT5 activity, leading to transcriptional perturbations that cause DNA damage and mitotic defects. This provides a rationale for combining MAT2A inhibitors with anti-mitotic drugs for treatment.
Article
Oncology
Qiangsheng Hu, Yi Qin, Shunrong Ji, Xiuhui Shi, Weixing Dai, Guixiong Fan, Shuo Li, Wenyan Xu, Wensheng Liu, Mengqi Liu, Zheng Zhang, Zeng Ye, Zhijun Zhou, Jingxuan Yang, Qifeng Zhuo, Xianjun Yu, Min Li, Xiaowu Xu
Summary: The study reveals that MTAP deficiency drives pancreatic cancer progression by inducing metabolic reprogramming, offering a new target and therapeutic strategy for treating MTAP-deficient disease. The findings also suggest that MTAP status impacts glucose and purine metabolism, identifying multiple novel treatment options against MTAP-deficient pancreatic cancer.
Article
Oncology
Jana Kaethe Striefler, Maren Schmiester, Franziska Brandes, Anne Doerr, Stefan Pahl, David Kaul, Daniel Rau, Eva-Maria Dobrindt, Georgios Koulaxouzidis, Lars Bullinger, Sven Maerdian, Anne Floercken
Summary: This retrospective analysis of adult Ewing family of tumors patients found that age, tumor size, and metastasis status have an impact on clinical presentation and outcomes. Older patients may have poorer prognosis. Further studies are needed to explore optimized treatment protocols for adult EFT patients.
Article
Oncology
Prashanth Ashok Kumar, Stephen L. Graziano, Natalie Danziger, Dean Pavlick, Eric A. Severson, Shakti H. Ramkissoon, Richard S. P. Huang, Brennan Decker, Jeffrey S. Ross
Summary: This study found that MTAP loss occurs in 13% of NSCLC cases, potentially affecting the choice of targeted and immunotherapy treatments. There are significant differences in cellular drivers and genomic alterations between MTAP-intact and MTAP-lost NSCLC, as well as different predictors of immunotherapy efficacy.
Article
Oncology
Lei Lou, Jiajun Li, Manman Qin, Xiaoxi Tian, Wenli Guo, Yuehong Li
Summary: Pleomorphic xanthoastrocytoma (PXA) is a rare tumor with the potential to recur and metastasize in the central nervous system (CNS), and CDKN2A homozygous deletion is a common genetic alteration in PXA. This study examined the correlation between MTAP immunohistochemistry and CDKN2A homozygous deletion in PXA. The results showed that MTAP immunostaining can serve as a suitable surrogate marker for CDKN2A homozygous deletions in PXAs, and CDKN2A homozygous deletions may be an important prognostic factor for PXAs.
BRAIN TUMOR PATHOLOGY
(2023)
Article
Oncology
Archana Sasi, Shuvadeep Ganguly, Bivas Biswas, Deepam Pushpam, Akash Kumar, Sandeep Agarwala, Shah Alam Khan, Venkatesan Sampath Kumar, Suryanarayana Deo, Daya Nand Sharma, Ahitagni Biswas, Asit Mridha, Adarsh Barwad, Sanjay Thulkar, Sameer Bakhshi
Summary: A prognostic score for Ewing sarcoma incorporating baseline clinical and laboratory parameters has been formulated and validated in this study. It has fair predictive ability for risk stratification and facilitates risk-adapted personalized therapy.
AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH
(2022)
Article
Medicine, Research & Experimental
Lucas Faria Abrahao-Machado, Filipe Pinto, Bruno Antunes, Sahlua Volc, Erica Boldrini, Olavo Pires de Camargo, Rui M. Reis
Summary: The study found that brachyury is an independent prognostic biomarker in Ewing sarcoma, suggesting a potential tumor suppressor role that requires further elucidation.
ADVANCES IN MEDICAL SCIENCES
(2021)
Article
Multidisciplinary Sciences
Landon J. Hansen, Rui Yang, Kristen Roso, Wenzhe Wang, Lee Chen, Qing Yang, Christopher J. Pirozzi, Yiping He
Summary: This study reveals the correlation between MTAP loss and differential expression of immune regulatory genes in glioblastoma (GBM). The metabolic product MTA, resulting from MTAP loss, promotes the immunosuppressive alternative activation of macrophages. This study suggests that MTAP status should be considered for characterizing GBM immune states and developing immunotherapy-based approaches.
SCIENTIFIC REPORTS
(2022)
Article
Environmental Sciences
Ghulam Qadir Chanihoon, Zunera Khalid, Hassan Imran Afridi, Tassadaq Hussain Jafar, Abdelmohsen A. Nassani, Ahsanullah Unar, Mohamed Haffar
Summary: The study compares the content of key mineral resources (magnesium, sodium, calcium, and potassium) in biological materials between ES hypertensive patients and healthy controls, finding that ES hypertensive patients have higher sodium levels but lower magnesium, potassium, and calcium levels.
ENVIRONMENTAL RESEARCH
(2022)
Review
Oncology
Abdallah Abboud, Karim Masrouha, Maelle Saliba, Rachid Haidar, Raya Saab, Nabil Khoury, Ayman Tawil, Said Saghieh
Summary: Extraskeletal Ewing sarcoma (EES) is a rare primary tumor of soft tissues, following similar treatment protocols as sarcoma tumors. Diagnosis relies on clinical features and imaging, with magnetic resonance imaging as the preferred modality. More research is needed to determine the optimal treatment for EES.
Article
Oncology
Donjeta Gjuka, Elio Adib, Kendra Garrison, Jianfeng Chen, Yuxue Zhang, Wenjiao Li, Daniel Boutz, Candice Lamb, Yuri Tanno, Amin Nassar, Talal El Zarif, Neil Kale, Mehrdad Rakaee, Tarek H. Mouhieddine, Sarah Abou Alaiwi, Alexander Gusev, Thomas Rogers, Jianjun Gao, George Georgiou, David J. Kwiatkowski, Everett Stone
Summary: Loss of MTAP in the chromosomal region 9p21 leads to reduced tumor-infiltrating lymphocytes and resistance to immune checkpoint inhibitor therapy. The loss of MTAP causes accumulation of methylthioadenosine (MTA), which impairs T cell function. Administration of MTA-depleting enzymes reverses the immunosuppressive effect and increases tumor-infiltrating lymphocytes, inhibiting tumor growth. Targeting MTA degradation may enhance the effectiveness of immune checkpoint inhibitor therapy in patients with 9p21/MTAP loss.
Article
Biochemistry & Molecular Biology
Fusen Jia, Lei Liu, Qi Weng, Haiyang Zhang, Xuesheng Zhao
Summary: This study constructed a model based on glycolysis and metabolism genes to predict the prognosis of EwS patients. It found that these genes play an important role in the prognosis of EwS. A comparison between high-risk and low-risk groups also revealed significant differences in immune landscape and immune checkpoint expression.
MOLECULAR BIOTECHNOLOGY
(2023)
Article
Oncology
Giada Del Baldo, Rachid Abbas, Maria Antonietta De Ioris, Valentina Di Ruscio, Iside Alessi, Evelina Miele, Angela Mastronuzzi, Giuseppe Maria Milano
Summary: This study demonstrates the potential prognostic role of serum lactate dehydrogenase (LDH) in Ewing sarcoma diagnosis and the low cost of LDH evaluation makes it suitable as a prognostic biomarker in pediatric oncology with limited resources.
Review
Biochemistry & Molecular Biology
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Rui Manuel Reis, Leticia Ferro Leal
Summary: Lung cancer, the most deadly cancer globally, can be diagnosed and molecularly stratified using tissue biopsy. Liquid biopsy, a minimally invasive approach, allows the detection of biomarkers from body fluids for diagnosis, prognosis, and treatment response prediction. Liquid biopsy options for managing lung cancer have emerged, including the detection of EGFR p.(Tyr790Met) mutation in plasma samples to predict response and monitor TKI-treated patients. Efforts are ongoing to improve the detection of clinically relevant biomarkers for lung cancer using more sensitive technologies. Liquid biopsy can also significantly reduce turnaround time for laboratory reports, accelerating treatment initiation and improving overall survival of lung cancer patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Miguel Garcia-Pardo, Amy Chang, Sabine Schmid, Mei Dong, M. Catherinen Brown, David Christiani, Hilary Aurora Tindel, Paul Brennan, Chu Chen, Jie Zhang, Brid M. Ryan, David Zaridze, Matthew B. Schabath, Leticia Ferro Leal, Rui Manuel Reis, Adonina Tardon, Guillermo Fernandez-Tardon, Sanjay S. Shete, Angeline Andrew, Hermann Brenner, Wei Xu, Rayjean J. Hung, Geoffrey Liu
Summary: This study examined the association between respiratory and cardiometabolic comorbidities and overall survival (OS) and lung cancer-specific survival (LCSS) in non-small cell lung cancer (NSCLC) patients. The analysis showed that NSCLC patients with respiratory comorbidities had worse LCSS, while those with cardiometabolic comorbidities had a higher risk of death from competing causes. Patients with respiratory comorbidities were also less likely to undergo surgical resection.
JOURNAL OF THORACIC ONCOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Viviane A. O. Silva, Marcela N. Rosa, Izabela N. F. Gomes, Patrik da Silva Vital, Ana Laura V. Alves, Adriane F. Evangelista, Giovanna B. Longato, Adriana C. Carloni, Bruno G. Oliveira, Fernanda E. Pinto, Wanderson Romao, Allisson R. Rezende, Arali A. C. Araujo, Lohanna S. F. M. Oliveira, Alessandra A. M. Souza, Stephanie C. Oliveira, Rosy Iara Maciel A. Ribeiro, Rui M. Reis
Summary: This study evaluates the cytotoxic potential of 13 leaf extracts obtained from plants of 5 families found in the cerrado biome on a panel of 5 glioma cell lines and one normal astrocyte. The results reveal the cytotoxic activity of Melastomataceae species Miconia cuspidata, Miconia albicans, and Miconia chamissois, with the chloroform partition of M. chamissois showing the greatest cytotoxic activity. These findings suggest that the chloroform partition of M. chamissois could be a promising component for the development of new anticancer therapies.
Article
Biochemistry & Molecular Biology
Esther Clavero, Jose Manuel Sanchez-Maldonado, Angelica Macauda, Rob Ter Horst, Belem Sampaio-Marques, Artur Jurczyszyn, Alyssa Clay-Gilmour, Angelika Stein, Michelle A. T. Hildebrandt, Niels Weinhold, Gabriele Buda, Ramon Garcia-Sanz, Waldemar Tomczak, Ulla Vogel, Andres Jerez, Daria Zawirska, Marzena Watek, Jonathan N. Hofmann, Stefano Landi, John J. Spinelli, Aleksandra Butrym, Abhishek Kumar, Joaquin Martinez-Lopez, Sara Galimberti, Maria Eugenia Sarasquete, Edyta Subocz, Elzbieta Iskierka-Jazdzewska, Graham G. Giles, Malwina Rybicka-Ramos, Marcin Kruszewski, Niels Abildgaard, Francisco Garcia Verdejo, Pedro Sanchez Rovira, Miguel Inacio da Silva Filho, Katalin Kadar, Malgorzata Razny, Wendy Cozen, Matteo Pelosini, Manuel Jurado, Parveen Bhatti, Marek Dudzinski, Agnieszka Druzd-Sitek, Enrico Orciuolo, Yang Li, Aaron D. Norman, Jan Maciej Zaucha, Rui Manuel Reis, Miroslaw Markiewicz, Juan Jose Rodriguez Sevilla, Vibeke Andersen, Krzysztof Jamroziak, Kari Hemminki, Sonja I. Berndt, Vicent Rajkumar, Grzegorz Mazur, Shaji K. Kumar, Paula Ludovico, Arnon Nagler, Stephen J. Chanock, Charles Dumontet, Mitchell J. Machiela, Judit Varkonyi, Nicola J. Camp, Elad Ziv, Annette Juul Vangsted, Elizabeth E. Brown, Daniele Campa, Celine M. Vachon, Mihai G. Netea, Federico Canzian, Asta Foersti, Juan Sainz
Summary: By conducting a meta-analysis on the germline genetic data of 234 autophagy-related genes from three independent study populations, we investigated the influence of autophagy-related variants on the risk of Multiple Myeloma (MM) and examined the functional mechanisms behind the observed associations. We identified SNPs within the six CD46, IKBKE, PARK2, ULK4, ATG5, and CDKN2A loci associated with MM risk and found that their effect on disease risk was mediated by specific subsets of immune cells, as well as vitamin D3-, MCP-2-, and IL20-dependent mechanisms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Lorena R. Sousa, Ana Gabriela S. Oliveira, Antonio Arantes, Joao Gabriel M. Junqueira, Gerso P. Alexandre, Vanessa G. P. Severino, Rui Manuel Reis, Bonglee Kim, Rosy I. M. A. Ribeiro
Summary: This study investigated the effects of four fractions of hexane and ethyl acetate extract of Annona coriacea Mart. against GBM cell lines. The fractions showed selective cytotoxicity to GBM cells compared to TMZ, and also inhibited cell migration, MMP-2 activity, and induced necroptosis-like morphological changes. These findings suggest that the fractions of A. coriacea Mart. should be further studied for potential GBM treatment.
Article
Oncology
Rhafaela Lima Causin, Andre Van Helvoort Lengert, Izabela Natalia Faria Gomes, Ana Julia Aguiar De Freitas, Marcela Nunes Rosa, Ricardo Dos Reis, Rui Manuel Reis, Marcia Maria Chiquitelli Marques
Summary: miR-130a-3p is overexpressed in cervical cancer cells and plays a significant role in the development of cervical cancer. Inhibiting miR-130a-3p can significantly reduce the proliferation, migration, and invasion of cervical cancer cells. miR-130a-3p may regulate the biological functions of cervical cancer cells by directly targeting the DLL1 gene. Therefore, miR-130a-3p may serve as a biomarker for determining cervical cancer progression.
Article
Cell Biology
Rodrigo de Oliveira Cavagna, Icaro Alves Pinto, Flavia Escremim de Paula, Gustavo Noriz Berardinelli, Debora Sant'Anna, Iara Santana, Vinicius Duval Da Silva, Eduardo Caetano Albino da Silva, Jose Elias Miziara, Josiane Mourao, Augusto Antoniazzi, Alexandre Jacinto, Pedro De Marchi, Miguel Angel Molina, Leticia Ferro Leal, Rui Manuel Reis
Summary: TP53 mutations are common in Brazilian lung adenocarcinomas, especially in lung adenocarcinomas with a prevalence of 60.4%. Disruptive and truncating mutations in TP53 gene are associated with younger age, African ancestry, and shorter overall survival.
Article
Medicine, Research & Experimental
Felipe Antonio de Oliveira Garcia, Adriane Feijo Evangelista, Bruna Minniti Mancano, Daniel Antunes Moreno, Gustavo Noriz Berardinelli, Flavia Escremim de Paula, Augusto Perazzolo Antoniazzi, Carlos Almeida Junior, Ismael Lombardi, Iara Santana, Gustavo Ramos Teixeira, Caio Evangelista Costa, Rui Manuel Reis
Summary: Choroid plexus tumors are rare intracranial neoplasms and account for less than 1% of all brain tumors but 20% of first-year pediatric brain tumors. The somatic driver alterations of these tumors are poorly understood. This study performed whole-exome sequencing on two cases of lateral ventricle tumors and identified genetic variants and copy-number alterations. The findings suggest the absence of recurrent somatic mutations in these tumors and call for further studies to better understand their biology.
COLD SPRING HARBOR MOLECULAR CASE STUDIES
(2023)
Article
Biotechnology & Applied Microbiology
Mariana de Oliveira Klein, Luiza Flavia Veiga Francisco, Izabela Natalia Faria Gomes, Sergio Serrano, Rui M. Reis, Henrique C. S. Silveira
Summary: This study analyzed the cytotoxicity and genotoxicity of anticancer drugs and their metabolites in aquatic ecosystems. The results showed that these compounds induced cytotoxic and genotoxic effects in cells at concentrations found in the environment. These findings provide valuable insights for the development of public policies to minimize potential environmental contamination.
MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
(2023)
Article
Plant Sciences
Ana Gabriela Silva Oliveira, Marina Andrade Rocha, Lucas Santos de Azevedo, Aline Thaynara de Moura Coelho, Rafael Cesar Russo Chagas, Helio Batista Santos, Ralph Gruppi Thome, Peter Samuel, Evelyn Wolfram, Bonglee Kim, Rui Manuel Reis, Rosy Iara Maciel Azambuja Ribeiro
Summary: This study investigated the constituents and antitumor potential of Tapirira guianensis in glioblastoma. The results showed that T. guianensis extracts have potential antitumor effects and can reduce tumor size and induce blood vessel shrinkage.
Article
Oncology
Florinda A. Santos, Rui Manuel Reis, Lucas C. Barroti, Allan A. L. Pereira, Marcus M. Matsushita, Ana Carolina de Carvalho, Jose Guilherme Datorre, Gustavo N. Berardinelli, Raphael L. C. Araujo
Summary: This retrospective cohort study evaluated the overall survival (OS), RAS, BRAF, and MSI frequencies in refractory mCRC patients treated with cetuximab. The study identified BRAF V600E, KRAS, and NRAS gene mutations, as well as MSI status, in pre-treated patients. The study found that BRAF, NRAS mutations, and MSI-High status were associated with shorter OS, while tumour laterality remained an independent prognostic factor.
JOURNAL OF GASTROINTESTINAL CANCER
(2023)
Review
Medicine, General & Internal
D. E. Zantut-Wittmann, A. C. Laus, D. A. Moreno, I. S. Barreto, C. A. Moma, F. F. R. Maia, E. C. S. C. Etchebehere, L. V. M. Assumpcao, R. M. Reis
Summary: BRAF and TERT oncogenes hotspot mutations are associated with a more aggressive outcome in thyroid carcinomas. TERT promoter (pTERT) mutations (C228T and C250T) are related to cancer growth and reduced overall-and disease-free survivals in TC. This report describes a patient with a poorly differentiated thyroid carcinoma (PDTC) who developed a large volume of metastases in a short period, and molecular analysis revealed two pTERT mutations (C228T and C250T), suggesting a relationship between pTERT mutations and aggressive course in PDTC.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES
(2023)
Article
Otorhinolaryngology
Lidia Maria Rebolho Batista Arantes, Renato Jose Silva-Oliveira, Ana Carolina de Carvalho, Matias Eliseo Melendez, Bruna Pereira Sorroche, Renan de Jesus Teixeira, Katiane Tostes, Edenir Inez Palmero, Rui Manuel Reis, Andre Lopes Carvalho
Summary: This study found that the methylation status of MGMT and DAPK has high accuracy in predicting the response of HNSCC cell lines to Afatinib and Allitinib, making them potential predictive biomarkers. These findings hold promise for the development of more personalized and effective treatment approaches for HNSCC patients.
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
(2023)
Article
Oncology
Pedro De Marchi, Leticia Ferro Leal, Luciane Sussuchi da Silva, Rodrigo de Oliveira Cavagna, Flavio Augusto Ferreira da Silva, Vinicius Duval da Silva, Eduardo C. A. da Silva, Augusto O. Saito, Vladmir C. Cordeiro de Lima, Rui Manuel Reis
Summary: The TIS and IFN-gamma signatures are predictive biomarkers for identifying NSCLC patients who could potentially benefit from immune checkpoint inhibitor therapies.
TRANSLATIONAL ONCOLOGY
(2024)
Article
Medicine, General & Internal
Rene Aloisio da Costa Vieira, Debora Sant'Anna, Ana Carolina Laus, Rui Manuel Reis
Summary: This study evaluated the association between self-reported race/color and ancestry in Brazilian patients with breast cancer. The results showed that although there is significant miscegenation among patients, there are many similarities between white European ancestry, black African ancestry, and yellow Asian ancestry.
REVISTA DA ASSOCIACAO MEDICA BRASILEIRA
(2023)
