Review
Biochemistry & Molecular Biology
Emilia J. Orzechowska-Licari, Joseph F. LaComb, Aisharja Mojumdar, Agnieszka B. Bialkowska
Summary: Tumor development and progression rely on the reprogramming of signaling pathways that regulate cell metabolism, with transcription factors SP and KLF playing crucial roles in modulating these alterations and thus impacting tumorigenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biology
Michelle G. Santoyo-Suarez, Jimena D. Mares-Montemayor, Gerardo R. Padilla-Rivas, Juan Luis Delgado-Gallegos, Adriana G. Quiroz-Reyes, Jorge A. Roacho-Perez, Diego F. Benitez-Chao, Lourdes Garza-Ocanas, Gilberto Arevalo-Martinez, Elsa N. Garza-Trevino, Jose Francisco Islas
Summary: Kruppel-like factors (KLFs) are DNA-binding proteins that play a crucial role in various biological processes and are associated with cardiovascular diseases such as atherosclerosis, myocardial infarction, left ventricular hypertrophy, stroke, diabetic cardiomyopathy, and congenital heart diseases. Abnormal regulation of KLFs can lead to pathophysiological changes in the heart and contribute to the development of these diseases.
Review
Biochemistry & Molecular Biology
Angeliki-Ioanna Giannopoulou, Dimitrios S. Kanakoglou, Christina Piperi
Summary: Gliomas, a type of CNS tumors, are heterogeneous and complex, and their classification and treatment are greatly influenced by molecular abnormalities. Aberrant expression of transcription factors in gliomas is associated with tumor development and migration. Currently, there are treatment options targeting these dysregulated transcription factors, including chemical compounds and natural substances.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Caitlin E. M. Thornton, Jingzhu Hao, Prasanna P. Tamarapu, Inigo Landa
Summary: This study reveals the complex regulatory mechanisms of TERT gene promoter mutations in thyroid tumors. It shows that multiple members of the ETS family can affect TERT transcription, even in the absence of promoter mutations. Additionally, the study highlights the importance of the MAPK signaling pathway in regulating TERT expression in thyroid cells. These findings suggest the need for a comprehensive understanding of the deregulation mechanisms of TERT in thyroid tumors before developing TPM-specific therapeutic strategies.
Article
Oncology
Xiaoguang Qiu, Yidong Chen, Zhaoshi Bao, Li Chen, Tao Jiang
Summary: In patients with IDH-wt/TERTp-mut grade II/III gliomas, the combination of radiotherapy and temozolomide followed by adjuvant temozolomide resulted in significantly longer overall survival compared to radiotherapy alone. Female sex was identified as a significant favorable prognostic factor.
RADIOTHERAPY AND ONCOLOGY
(2022)
Article
Genetics & Heredity
Alka Malhotra, Alban Ziegler, Li Shu, Renee Perrier, Louise Amlie-Wolf, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Estelle Colin, Adeline Vanderver, Omar Sherbini, Katrien Stouffs, Emmanuel Scalais, Alessandro Serretti, Magalie Barth, Benjamin Navet, Paul Rollier, Hui Xi, Hua Wang, Hainan Zhang, Denise L. Perry, Alessandra Ferrarini, Roberto Colombo, Alexander Pepler, Adele Schneider, Kiyotaka Tomiwa, Nobuhiko Okamoto, Naomichi Matsumoto, Noriko Miyake, Ryan Taft, Xiao Mao, Dominique Bonneau
Summary: Rare de novo variants in LMBRD2 were identified in 10 individuals with developmental delay, intellectual disability, thin corpus callosum, microcephaly and seizures. These findings suggest that these variants may cause a previously unrecognized early-onset neurodevelopmental disorder.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Cardiac & Cardiovascular Systems
David R. Sweet, Roshan Padmanabhan, Xudong Liao, Himanshu R. Dashora, Xinmiao Tang, Lalitha Nayak, Rajan Jain, Sarah De Val, Vinesh Vinayachandran, Mukesh K. Jain
Summary: This study investigates the transcriptional control mechanisms of KLF2 and KLF4 in heart and lung endothelium. The results show that KLF2 and KLF4 use open chromatin regions in promoters and enhancers, and bind context-specifically to govern transcription in microvasculature. This work provides insight into the transcriptional and functional heterogeneity seen in vascular populations, and establishes tools for exploring microvascular endothelial dynamics in vivo.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Genetics & Heredity
Siren Berland, Bjorn Ivar Haukanes, Petur Benedikt Juliusson, Gunnar Houge
Summary: This study reports on a boy with a mixture of Beckwith-Wiedemann syndrome (BWS) and IMAGe syndrome, along with additional features of developmental delay and microcephaly. The researchers identified a variant in the CDKN1C gene that resulted in the production of three different RNA products, explaining the co-occurring features of both syndromes.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Hematology
Roeland Huijgen, Dirk J. Blom, Merel L. Hartgers, Kevin Chemello, Asier Benito-Vicente, Kepa B. Uribe, Zorena Behardien, Dee M. Blackhurst, Brigitte C. Brice, Joep C. Defesche, Annemiek G. de Jong, Rosemary J. Jooste, Bharati D. Ratanjee, Gabriele A. E. Solomon, Karen H. Wolmarans, G. Kees Hovingh, Cesar Martin, Gilles Lambert, A. David Marais
Summary: Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein-cholesterol and increased cardiovascular risk. In this study, we evaluated the impact of novel PCSK9 variants in FH patients through genetic cascade screening and functionality assays. Approximately 1.14% of FH cases were clearly attributed to pathogenic variants in PCSK9, with the G516V variant's pathogenicity firmly established.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Oncology
Jong-Whi Park, Felix Sahm, Bianca Steffl, Isabel Arrillaga-Romany, Daniel Cahill, Michelle Monje, Christel Herold-Mende, Wolfgang Wick, Sevin Turcan
Summary: The study demonstrates that DAC has antitumor activity against IDH1 mutant glioma tumorspheres with hemizygous codeletion of chromosome arms 1p/19q, and inhibits DNA replication genes. DAC induces CDKN1A expression while downregulating TERT, affecting the sensitivity of cells to DAC treatment.
Article
Oncology
Koushik Muralidharan, Anudeep Yekula, Julia L. Small, Zachary S. Rosh, Keiko M. Kang, Lan Wang, Spencer Lau, Hui Zhang, Hakho Lee, Chetan Bettegowda, Michael R. Chicoine, Steven N. Kalkanis, Ganesh M. Shankar, Brian Nahed, William T. Curry, Pamela S. Jones, Daniel P. Cahill, Leonora Balaj, Bob S. Carter
Summary: Liquid biopsy offers a minimally invasive tool to diagnose and monitor the heterogeneous molecular landscape of tumors. This study developed a novel detection technique for TERT promoter mutations in glioma patients, demonstrating clinically relevant sensitivity and specificity. Results show that peripheral TERT-mutant allele frequency reflects the clinical course of the disease.
CLINICAL CANCER RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Francois Hafezi, Lisa Jaxel, Morgane Lemaire, Jonathan D. Turner, Danielle Perez-Bercoff
Summary: TERT promoter mutations, especially the -124C>T mutation, play a crucial role in the reactivation of telomerase reverse transcriptase. The mutations generally lead to increased TERT transcription levels, with the double mutation showing the highest impact. Additionally, the presence of these mutations may unleash antisense transcription and lncRNA TAPAS might help balance the effects of TERT promoter mutations.
Article
Genetics & Heredity
Masashi Nishikawa, Marcello Scala, Muhammad Umair, Hidenori Ito, Ahmed Waqas, Pasquale Striano, Federico Zara, Gregory Costain, Valeria Capra, Koh-ichi Nagata
Summary: In this study, a novel RAC3 variant (p.F28S) was identified to play a critical role in brain development, leading to morphological and functional defects in cortical neurons, likely due to hyperactivation of PAK1.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Plant Sciences
Lin Yue, Xinxin Pei, Fanjiang Kong, Lin Zhao, Xiaoya Lin
Summary: Soybean (Glycine max) is a key crop for protein and oil production. The bZIP transcription factors in soybean play important roles in various regulatory pathways, such as yield improvement, stress response, environmental signaling, and carbon-nitrogen balance. This review provides a comprehensive understanding of the soybean bZIP family, including its members and classification, and offers valuable insights for future research on bZIP transcription factors and genetic resources for soybean breeding.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Multidisciplinary Sciences
Rengyun Liu, Jie Tan, Xiaopei Shen, Ke Jiang, Chaoqun Wang, Guangwu Zhu, Mingzhao Xing
Summary: This study demonstrates that targeting the FOS/GABPB/(mutant) TERT cascade by inhibiting FOS can suppress the growth of mutant TERT-induced cancer cells and tumors by inducing apoptosis through the regulation of TRAIL-R2 and survivin in the apoptotic cascade.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Oncology
Giannis Mountzios, Alessandro de Toma, Panagiota Economopoulou, Alex Friedlaender, Marco Banini, Giuseppe Lo Russo, Panagiotis Baxevanos, Fausto Roila, Giuseppe Luigi Banna, Athina Christopoulou, Beatriz Jimenez, Ana Collazo-Lorduy, Helena Linardou, Antonio Calles, Domenico Galetta, Alfredo Addeo, Andrea Camerini, Pamela Pizzutilo, Paris Kosmidis, Marina Chiara Garassino, Claudia Proto, Diego Signorelli, Giulio Metro
Summary: For patients with clinical stage I ground-glass opacity (GGO) lung adenocarcinomas with maximum diameters ≤2 cm, lobectomy and limited resection are comparable oncologic procedures. However, lobectomy resulted in better survival for patients with solid-dominant tumors in this population.
CLINICAL LUNG CANCER
(2021)
Article
Oncology
Valentina Bardelli, Silvia Arniani, Valentina Pierini, Tiziana Pierini, Danika Di Giacomo, Paolo Gorello, Martina Moretti, Fabrizia Pellanera, Loredana Elia, Antonella Vitale, Clelia Tiziana Storlazzi, Doron Tolomeo, Elena Mastrodicasa, Maurizio Caniglia, Sabina Chiaretti, Loredana Ruggeri, Giovanni Roti, Claire Schwab, Christine J. Harrison, Andre Almeida, Tim Pieters, Pieter Van Vlierberghe, Cristina Mecucci, Roberta La Starza
Summary: The study investigated MYB rearrangements and expression levels in pediatric and adult patients with T-cell acute lymphoblastic leukemia. It found that cases with MYB rearrangements had higher levels of MYB expression, were associated with non-ETP phenotype, and mainly belonged to specific homeobox-related subgroups. This suggests the potential of MYB as a predictive/prognostic marker and/or target for tailored therapy in 30-40% of T-ALL cases.
GENES CHROMOSOMES & CANCER
(2021)
Article
Oncology
Filippo de Marinis, Konstantin K. Laktionov, Artem Poltoratskiy, Inna Egorova, Maximilian Hochmair, Antonio Passaro, Maria Rita Migliorino, Giulio Metro, Maya Gottfried, Daphne Tsoi, Gyula Ostoros, Simona Rizzato, Guzel Z. Mukhametshina, Michael Schumacher, Silvia Novello, Rafal Dziadziuszko, Wenbo Tang, Laura Clementi, Agnieszka Cseh, Dariusz Kowalski
Summary: The study reported interim results of administering afatinib in a real-world setting for patients with epidermal growth factor receptor mutation-positive non-small cell lung cancer. The treatment showed promising efficacy and was well tolerated, with manageable treatment-related adverse events. These findings independently support previous randomized controlled trials of afatinib in this patient population.
Article
Hematology
Danika Di Giacomo, Roberta La Starza, Paolo Gorello, Fabrizia Pellanera, Zeynep Kalender Atak, Kim De Keersmaecker, Valentina Pierini, Christine J. Harrison, Silvia Arniani, Martina Moretti, Nicoletta Testoni, Giovanna De Santis, Giovanni Roti, Caterina Matteucci, Renato Bassan, Peter Vandenberghe, Stein Aerts, Jan Cools, Beat Bornhauser, Jean-Pierre Bourquin, Rocco Piazza, Cristina Mecucci
Summary: The study identified a distinct subgroup of immature acute leukemias characterized by 14g32/BCL11B translocations, including AML, TIM MPAL, and ETP-ALL. These translocations activate BCL11B, whose expression behaves as a disease biomarker present at diagnosis and co-occurs with variants at FLT3 and epigenetic modulators. Transcriptome analysis revealed a specific expression signature separating BCL11B AL from AML, T-ALL, and ETP-ALL, with an ex vivo drug-sensitivity profile identifying effective antileukemic compounds.
Article
Oncology
Francesca Trentini, Giulia Mazzaschi, Gianluca Milanese, Claudio Pavone, Denise Madeddu, Letizia Gnetti, Caterina Frati, Bruno Lorusso, Costanza Anna Maria Lagrasta, Roberta Minari, Luca Ampollini, Roberta Eufrasia Ledda, Mario Silva, Nicola Sverzellati, Federico Quaini, Giovanni Roti, Marcello Tiseo
Summary: This study validated a radiomic model capable of dissecting hot and cold tumor immune microenvironment, highlighting the PD-1 to CD8 ratio as the best predictor of clinical outcome among TIME characteristics, and identified RFs that could sharply distinguish between hot and cold TIME categories.
Article
Oncology
Yana Pikman, Nicole Ocasio-Martinez, Gabriela Alexe, Boris Dimitrov, Samuel Kitara, Frances F. Diehl, Amanda L. Robichaud, Amy Saur Conway, Linda Ross, Angela Su, Frank Ling, Jun Qi, Giovanni Roti, Caroline A. Lewis, Alexandre Puissant, Matthew G. Vander Heiden, Kimberly Stegmaier
Summary: This study identifies the significance of the one-carbon folate pathway in T-ALL and supports the further development of SHMT inhibitors for the treatment of T-ALL and other cancers.
Review
Genetics & Heredity
Valentina Bardelli, Silvia Arniani, Valentina Pierini, Danika Di Giacomo, Tiziana Pierini, Paolo Gorello, Cristina Mecucci, Roberta La Starza
Summary: T-ALL is an immature lymphoid tumor affecting bone marrow, lymphoid organs, etc. It is a heterogeneous disease caused by multiple genetic abnormalities.
Article
Genetics & Heredity
Sara Baglivo, Fortunato Bianconi, Giulio Metro, Alessio Gili, Francesca Romana Tofanetti, Guido Bellezza, Biagio Ricciuti, Martina Mandarano, Valeria Teti, Annamaria Siggillino, Maria Sole Reda, Rita Chiari, Lorenza Pistola, Angelo Sidoni, Vincenzo Minotti, Fausto Roila, Vienna Ludovini
Summary: High TLR7 gene expression level was identified as an independent predictor for poor clinical benefits from ICI in advanced NSCLC patients. Bayesian analysis revealed a complex interaction network involving multiple immune-related genes.
Article
Oncology
Giuseppe L. Banna, Marcello Tiseo, Diego L. Cortinovis, Francesco Facchinetti, Joachim G. J. Aerts, Cinzia Baldessari, Raffaele Giusti, Emilio Bria, Francesco Grossi, Rossana Berardi, Alessandro Morabito, Annamaria Catino, Carlo Genova, Francesca Mazzoni, Alain Gelibter, Francesca Rastelli, Marianna Macerelli, Rita Chiari, Stefania Gori, Giovanni Mansueto, Fabrizio Citarella, Luca Cantini, Erika Rijavec, Federica Bertolini, Federico Cappuzzo, Alessandro De Toma, Alex Friedlaender, Giulio Metro, Maria Vittoria Pensieri, Giampiero Porzio, Corrado Ficorella, David J. Pinato, Alessio Cortellini, Alfredo Addeo
Summary: In this study, the role of immune-inflammatory surrogates, including NLR and pretreatment steroids, in predicting outcomes for patients with mNSCLC and poor PS undergoing first-line immunotherapy was investigated. The results showed that NLR, LDH, and pretreatment steroids were significant prognostic factors for overall survival and progression-free survival. Patients were classified into favorable, intermediate, and poor-risk groups based on their LIPS score, which had significant differences in 1-year OS and median PFS.
Article
Oncology
Kai-Fu Zheng, Yu-Jian Liu, Nan Ma, Yan-Lu Xiong, Xi-Yang Tang, Qian Zhang, Zhong-Lin Luo, Huan-Huan Tian, Paul Hofman, Yoshinobu Ichiki, Giulio Metro, Motoko Tachihara, Li Gong, Xiao-Fei Li, Jin-Bo Zhao
Summary: This study revealed that patients with squamous cell carcinoma (SCC) in primary tracheobronchial neoplasms had higher expression of PD-L1, while those with adenoid cystic carcinoma (ACC) had no PD-L1 expression. The density of FOXP3(+) cells was higher in SCC compared to ACC, indicating differences in the immune microenvironment based on histology.
TRANSLATIONAL LUNG CANCER RESEARCH
(2021)
Article
Oncology
Silvia Arniani, Valentina Pierini, Fabrizia Pellanera, Caterina Matteucci, Danika Di Giacomo, Valentina Bardelli, Martina Quintini, Elena Mavridou, Anair Graciela Lema Fernandez, Carlotta Nardelli, Martina Moretti, Paolo Gorello, Barbara Crescenzi, Silvia Romoli, Donatella Beacci, Marco Cerrano, Nicola Fracchiolla, Simona Sica, Fabio Forghieri, Fabio Giglio, Michela Dargenio, Loredana Elia, Roberta La Starza, Cristina Mecucci
Summary: The study reports on the incidence, distribution, and features of chromothriptic events in T-cell acute lymphoblastic leukemias (T-ALL). Chromothripsis mainly occurs in adult cases with an immature phenotype, affecting 1 to 4 chromosomes, commonly involving chromosomes 1, 6, 7, and 17. These chromothriptic events not only result in abnormalities in genes typically associated with T-ALL, but also give rise to new/rare alterations.
Article
Biochemistry & Molecular Biology
Husam B. R. Alabed, Paolo Gorello, Roberto Maria Pellegrino, Hovirag Lancioni, Roberta La Starza, Anna Aurora Taddei, Lorena Urbanelli, Sandra Buratta, Anair Graciela Lema Fernandez, Caterina Matteucci, Maurizio Caniglia, Francesco Arcioni, Cristina Mecucci, Carla Emiliani
Summary: This study aims to investigate the lipidomic analysis of erythrocytes in order to highlight variations between healthy and patient subjects. The results showed that the lipid composition of sickle cells, especially phospholipids, were altered in SCD patients. In-depth study of changes in lipid metabolism can provide insights into the enzymes and genes involved, improving the understanding of the biochemical basis of SCD and potentially developing a predictive score system for clinical severity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Meeting Abstract
Hematology
L. Pagliaro, K. Tragni, G. Roti
Meeting Abstract
Hematology
A. Rinaldi, B. Cambo, L. Prezioso, M. T. Giaimo, L. Pagliaro, A. B. Dalla Palma, G. Sammarelli, R. Lastarza, D. Vallisa, G. Roti