Article
Multidisciplinary Sciences
Fanying Tang, Duo Xu, Shangqian Wang, Chen Khuan Wong, Alexander Martinez-Fundichely, Cindy J. Lee, Sandra Cohen, Jane Park, Corinne E. Hill, Kenneth Eng, Rohan Bareja, Teng Han, Eric Minwei Liu, Ann Palladino, Wei Di, Dong Gao, Wassim Abida, Shaham Beg, Loredana Puca, Maximiliano Meneses, Elisa de Stanchina, Michael F. Berger, Anuradha Gopalan, Lukas E. Dow, Juan Miguel Mosquera, Himisha Beltran, Cora N. Sternberg, Ping Chi, Howard Scher, Andrea Sboner, Yu Chen, Ekta Khurana
Summary: This study classified CRPC into different subtypes using ATAC-seq, RNA-seq, and DNA sequencing. The identified subtypes include AR-dependent, neuroendocrine, Wnt-dependent, and stem cell-like subtypes driven by AP-1 transcription factors. Transcriptomic signatures were used for patient classification, and SCL was found to be the second most common subtype of CRPC.
Review
Oncology
Shafia Rahman, Shimon Garrel, Michael Gerber, Radhashree Maitra, Sanjay Goel
Summary: Colorectal cancer is a common cancer in the United States, and approximately 45% of patients with metastatic colorectal cancer have KRAS mutations, requiring a more personalized treatment approach for these patients.
Review
Cell Biology
Qian Liu, Lijuan Guo, Zhiyuan Lou, Xueping Xiang, Jimin Shao
Summary: Transcription factors, cofactors, chromatin regulators, and transcription apparatuses interact with transcriptional regulatory elements, including super-enhancers (SEs), to coordinately regulate the expression of target genes and control cell behaviors. Oncogenic SEs, which are generated within cancer cells and play a central role in determining cell identity and tumor initiation and progression, have become attractive targets for novel cancer therapeutic strategies. This review discusses the identification, formation, activation modes, and regulatory mechanisms of oncogenic SEs, as well as therapeutic strategies and compounds targeting these SEs in colorectal cancer and other malignancies.
CELL DEATH & DISEASE
(2022)
Review
Cell Biology
Yuying Zhang, Jingyan Luo, Weikang Yang, Wen-Chu Ye
Summary: Circular RNAs (circRNAs) are highly stable, conserved, and abundantly expressed in various organs and tissues. Abnormal circRNA expression has been found in CRC patients' blood/serum, cells, CRC tissues, and exosomes, and circRNAs play crucial roles in the development of CRC by acting as microRNA sponges, RNA-binding protein sponges, regulators of gene splicing and transcription, and protein/peptide translators. These characteristics make circRNAs potential markers for CRC diagnosis and prognosis, potential therapeutic targets, and circRNA-based therapies. However, further studies are needed to improve the understanding of the roles and biological mechanisms of circRNAs in CRC development.
CELL DEATH & DISEASE
(2023)
Review
Oncology
Simon Manuel Tria, Matthew E. Burge, Vicki L. J. Whitehall
Summary: More than a third of colorectal cancers have a KRAS mutation, posing a challenge for the development of direct targeting inhibitors. Recent advancements have led to the development of new generation inhibitors specifically targeting the G12C KRAS mutation, such as Adagrasib and Sotorasib. Therapeutic regimens are being developed to address resistance to these inhibitors and improve treatment outcomes.
Review
Hematology
Karen Aymonnier, Charlotte Kawecki, Veronique Arocas, Yacine Boulaftali, Marie Christine Bouton
Summary: Hemostasis is a regulated process involving a balance between procoagulant and anticoagulant systems. Hemophilia, a well-known bleeding disorder, is caused by deficiencies in FVIII or FIX and recent studies suggest that targeting natural serpins could rebalance coagulation in hemophilia.
THROMBOSIS AND HAEMOSTASIS
(2021)
Review
Medical Laboratory Technology
Ling-Juan Chen, Xiang Chen, Xiao-Hua Niu, Xiao-Fei Peng
Summary: Colorectal cancer (CRC) is a major cause of cancer-related deaths, and novel biomarkers are needed for timely diagnosis and management. Long noncoding RNAs (lncRNAs) have been found to have important roles in CRC progression and could potentially serve as diagnostic and prognostic biomarkers. This review summarizes the latest findings on potential lncRNAs as biomarkers in CRC samples, discusses the dysregulated lncRNAs and their molecular mechanisms, and explores the therapeutic implications and challenges for future research. It provides insights on the potential of lncRNAs as biomarkers and therapeutic targets in CRC.
CLINICA CHIMICA ACTA
(2023)
Article
Oncology
Amriti R. Lulla, Said Akli, Cansu Karakas, Min Jin Ha, Natalie W. Fowlkes, Yoshitsugu Mitani, Tuyen Bui, Jing Wang, Xiayu Rao, Kelly K. Hunt, Laurent Meijer, Adel K. El-Naggar, Khandan Keyomarsi
Summary: This study established a novel transgenic mouse model efficiently recapitulating the major histological subtype of human SGC. LMW-E was found to preferentially bind to CDK5 in the absence of CDK2. Clinical evidence showed that co-expression of LMW-E/CDK5 was significantly associated with decreased recurrence free survival in human SGC.
Review
Immunology
Yifei Feng, Yan Lu
Summary: This paper provides a synopsis of current practices in vitiligo treatment and introduces the progress in identifying new molecular targets and applying molecular-targeted therapies, offering valuable insights for establishing further precision medicine for vitiligo patients.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Medicine, General & Internal
Gaetano Gallo, Giuseppina Vescio, Gilda De Paola, Giuseppe Sammarco
Summary: Colorectal cancer is a genetically, anatomically, and transcriptionally heterogeneous disease. The prognosis for a CRC patient depends on the tumor stage at diagnosis. The tumor microenvironment plays a crucial role in targeted cancer therapy.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Pharmacology & Pharmacy
Alessandro Arrigo, Francesco Bandello
Summary: Intravitreal treatments have revolutionized the management of exudative retinal diseases, with the introduction of anti-VEGF and corticosteroid molecules as two main classes of drugs. These molecules have shown efficacy in regression of exudation and restoration of macular profile. Clinical trials and reports have displayed differences in molecular targeting and pharmacological profiles, while new emerging molecules are under investigation to further advance treatment options for retinal diseases.
Article
Medicine, Research & Experimental
Feihong Ren, Qiubai Jin, Tongtong Liu, Xuelei Ren, Yongli Zhan
Summary: This study identified potential drug targets associated with specific cancers using combined analysis. Thirteen plasma proteins were found to be associated with prostate cancer, breast cancer, and lung cancer. These findings provide new insights into the development of more effective cancer treatments.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Review
Biology
Liu Yang, Mingli Jin, Kwang Won Jeong
Summary: Histone H3K4 methyltransferases play crucial roles in cancer development and treatment, with inhibitors being developed to overcome drug resistance.
Review
Cell Biology
Dawid Dorna, Jaroslaw Paluszczak
Summary: Epigenetic aberrations, including altered DNA methylation and histone modifications, are commonly found in head and neck squamous cell carcinomas (HNSCC). Histone lysine demethylases (KDMs) have been implicated in the pathogenesis of HNSCC and are potential therapeutic targets. These enzymes play a role in transcriptional regulation and various biological processes. Overexpression of KDMs in HNSCC affects cell proliferation, apoptosis, cell motility, and stemness.
Review
Pharmacology & Pharmacy
Kang Fu, Xueyao Zheng, Yuhan Chen, Liuying Wu, Zhiming Yang, Xu Chen, Wei Song
Summary: Diabetic foot ulcers (DFUs) are serious complications of diabetes mellitus, characterized by tissue destruction in the foot. Matrix metalloproteinases (MMPs) play crucial roles in the pathogenesis and wound healing process of DFUs. Overexpression of MMPs in DFUs can result in excessive tissue degradation and impaired wound healing. Regulation of MMP levels may facilitate wound healing in DFUs.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Genetics & Heredity
Clementine Legrand, Marine Lebrun, Pierre Naibo, Magalie Peysselon, Fabienne Prieur, Caroline Kientz, Francoise Desseigne, Sandrine Handallou, Jean-Marc Rey, Sophie Nambot, Vincent Goussot, Nadim Hamzaoui, Qing Wang
Summary: The POLD1 gene is involved in DNA proofreading and mutations in its exonuclease domain may predispose individuals to cancer and colonic polyps. A novel pathogenic variant, c.1458G>T p.(Lys486Asn), was identified in two apparently unrelated families, with clinical characteristics suggesting a potential genotype/phenotype correlation. These findings shed further light on the role of POLD1 in cancer-related risk.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Engineering, Biomedical
Wang Xi, Jad Saleh, Ayako Yamada, Caterina Tomba, Barbara Mercier, Sebastien Janel, Tien Dang, Matis Soleilhac, Aurelie Djemat, Huiqiong Wu, Beatrice Romagnolo, Frank Lafont, Rene-Marc Mege, Yong Chen, Delphine Delacour
Summary: This study developed hydrogel scaffolds with different elasticities and investigated their influence on the expansion, organization, and differentiation of intestinal epithelial cells. The results showed that cells on soft substrates exhibited improved characteristics resembling in vivo intestinal tissue, which is of significant importance for the design of biomaterials for ex vivo intestinal models.
Article
Oncology
Benoit Rousseau, Ivan Bieche, Eric Pasmant, Nadim Hamzaoui, Nicolas Leulliot, Lucas Michon, Aurelien de Reynies, Valerie Attignon, Michael B. Foote, Julien Masliah-Planchon, Magali Svrcek, Romain Cohen, Victor Simmet, Paule Augereau, David Malka, Antoine Hollebecque, Damien Pouessel, Carlos Gomez-Roca, Rosine Guimbaud, Amandine Bruyas, Marielle Guillet, Jean-Jacques Grob, Muriel Duluc, Sophie Cousin, Christelle de la Fouchardiere, Aude Flechon, Frederic Rolland, Sandrine Hiret, Esma Saada-Bouzid, Olivier Bouche, Thierry Andre, Diane Pannier, Farid El Hajbi, Stephane Oudard, Christophe Tournigand, Jean-Charles Soria, Stephane Champiat, Drew G. Gerber, Dennis Stephens, Michelle F. Lamendola-Essel, Steven B. Maron, Bill H. Diplas, Guillem Argiles, Asha R. Krishnan, Severine Tabone-Eglinger, Anthony Ferrari, Neil H. Segal, Andrea Cercek, Natalie Hoog-Labouret, Frederic Legrand, Clotilde Simon, Assia Lamrani-Ghaouti, Luis A. Diaz, Pierre Saintigny, Sylvie Chevret, Aurelien Marabelle
Summary: Missense mutations in the POLE gene can lead to tumors with high mutational burden and a higher response rate to immunotherapy. This study found that only specific POLE mutation variants were associated with increased T-cell infiltrates and high response to anti-PD-1 therapy.
Article
Genetics & Heredity
Laurence Pacot, Valerie Pelletier, Albain Chansavang, Audrey Briand-Suleau, Cyril Burin des Roziers, Audrey Coustier, Theodora Maillard, Nicolas Vaucouleur, Lucie Orhant, Cecile Barbance, Alban Lermine, Nadim Hamzaoui, Djihad Hadjadj, Ingrid Laurendeau, Laila El Khattabi, Juliette Nectoux, Michel Vidaud, Beatrice Parfait, Helene Dollfus, Eric Pasmant, Dominique Vidaud
Summary: This case report highlights the importance of whole genome sequencing (WGS) in diagnosing patients with neurofibromatosis type 1 (NF1). WGS can detect structural variants, including copy number variants, that may be missed by other methods. By detecting the pathogenic variant in the cell-free DNA of the patient's pregnant partner, targeted genetic counseling and non-invasive prenatal diagnosis were made possible.
Article
Oncology
Maite Verreault, Irma Segoviano Vilchis, Shai Rosenberg, Nolwenn Lemaire, Charlotte Schmitt, Jeremy Guehennec, Louis Royer-Perron, Jean-Leon Thomas, TuKiet T. Lam, Florent Dingli, Damarys Loew, Francois Ducray, Sophie Paris, Catherine Carpentier, Yannick Marie, Florence Laigle-Donadey, Audrey Rousseau, Natascha Pigat, Florence Boutillon, Franck Bielle, Karima Mokhtari, Stuart J. Frank, Aurelien de Reynies, Khe Hoang-Xuan, Marc Sanson, Vincent Goffin, Ahmed Idbaih
Summary: This study identifies a distinct molecular subset of GBMs that is characterized by GHR signaling instead of EGFR overexpression. GHR signaling promotes tumorigenesis and regulates cell proliferation and migration, providing a new direction for improving the prognosis of GBM patients.
CLINICAL AND TRANSLATIONAL MEDICINE
(2022)
Meeting Abstract
Oncology
C. Gallois, M. Sroussi, S. Mouillet-Richard, C. Mulot, L. M. Dourthe, T. Mazard, M. Jary, C. de la Fouchardiere, C. Lecaille, W. Lahlou, J. Tabernero, J-L. van Laethem, C. Lepage, J. F. Emile, J. Taieb, A. de Reynies, P. Laurent-Puig
ANNALS OF ONCOLOGY
(2022)
Meeting Abstract
Oncology
C. D. S. Groeneveld, V. Harter, S. Culine, C. Krucker, V. Dixon, A. De Reynies, C. Pfister, F. Radvanyi, Y. Allory
ANNALS OF ONCOLOGY
(2022)
Article
Urology & Nephrology
Ming-Jun Shi, Jacqueline Fontugne, Aura Moreno-Vega, Xiang-Yu Meng, Clarice Groeneveld, Florent Dufour, Aurelie Kamoun, Sia Viborg Lindskrog, Luc Cabel, Clementine Krucker, Audrey Rapinat, Claire Dunois-Larde, May-Linda Lepage, Elodie Chapeaublanc, Olivier Levrel, Victoria Dixon, Thierry Lebret, Anna Almeida, Aurelien De Reynies, Natacha Rochel, Lars Dyrskjot, Yves Allory, Francois Radvanyi, Isabelle Bernard-Pierrot
Summary: FGFR3 mutations are associated with male sex bias in bladder cancer. Through studies on a transgenic mouse model, it has been found that FGFR3 mutations can initiate bladder cancer and potentially impact male sex bias through FGFR3-dependent downregulation of estrogen receptor.
Article
Oncology
I. Hernandez-Verdin, E. Kirasic, K. Wienand, K. Mokhtari, S. Eimer, H. Loiseau, A. Rousseau, J. Paillassa, G. Ahle, F. Lerintiu, E. Uro-Coste, L. Oberic, D. Figarella-Branger, O. Chinot, G. Gauchotte, L. Taillandier, J. -P. Marolleau, M. Polivka, C. Adam, R. Ursu, A. Schmitt, N. Barillot, L. Nichelli, F. Lozano-Sanchez, M. -J. Ibanez-Julia, M. Peyre, B. Mathon, Y. Abada, F. Charlotte, F. Davi, C. Stewart, A. de Reynies, S. Choquet, C. Soussain, C. Houillier, B. Chapuy, K. Hoang-Xuan, A. Alenorn
Summary: Through comprehensive multi-omic analysis, we identified and characterized four molecular patterns in PCNSL, which have a distinct prognostic impact and can guide future clinical stratification and targeted interventions.
ANNALS OF ONCOLOGY
(2023)
Article
Oncology
Julie Leclerc, Marie Beaumont, Roseline Vibert, Stephane Pinson, Catherine Vermaut, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Christophe Demay, Florence Coulet, Erell Guillerm, Nadim Hamzaoui, Patrick R. Benusiglio, Afane Brahimi, Francois Cornelis, Helene Delhomelle, Sandra Fert-Ferrer, Benjamin P. J. Fournier, Alain Hovnanian, Clementine Legrand, Alain Lortholary, David Malka, Florence Petit, Jean-Christophe Saurin, Sophie Lejeune, Chrystelle Colas, Marie-Pierre Buisine
Summary: AXIN2 variants are associated with colorectal cancer susceptibility, and testing for AXIN2 mutations is clinically relevant for patients with colorectal adenomatous polyposis or cancer. This study identified 10 pathogenic/likely pathogenic AXIN2 variants, with a frequency of 0.24% in patients. AXIN2 variants were strongly associated with colorectal adenomatous polyposis and other digestive cancers.
GENES CHROMOSOMES & CANCER
(2023)
Article
Gastroenterology & Hepatology
Romain Sanson, Silvia Luna Lazzara, David Cune, Caterina Luana Pitasi, Coralie Trentesaux, Marie Fraudeau, Franck Letourneur, Benjamin Gaintpierre, Morgane Le Gall, Pascale Bossard, Benoit Terris, Pascal Finetti, Francois Bertucci, Emilie Mamessier, Beatrice Romagnolo, Christine Perret
Summary: Axin1 is a negative regulator of the Wnt/beta-catenin signaling pathway with tumor-suppressor function. It has redundant function with Axin2 for down-regulation of the pathway in normal intestine. Axin1 deficiency increases susceptibility to chemically induced colon carcinogenesis, but reduces dextran sulfate sodium-induced colitis by attenuating the induction of a proinflammatory program. Axin1 controls an interferon gamma/Th1 immune program that enhances the inflammatory response and prevents tumor growth. The Axin1-dependent gene expression signature identifies a group of patients with potential vulnerability to immune checkpoint blockade therapies in colorectal cancer.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Oncology
Constance Thibault, Aude Flechon, Laurence Albiges, Charlotte Joly, Philippe Barthelemy, Marine Gross-Goupil, Christine Chevreau, Elodie Coquan, Frederic Rolland, Brigitte Laguerre, Gwenaelle Gravis, Nicolas Pecuchet, Reza-Thierry Elaidi, Marc-Olivier Timsit, Meryem Brihoum, Edouard Auclin, Aurelien de Reynies, Yves Allory, Stephane Oudard
Summary: This study evaluated the safety and efficacy of bevacizumab in combination with chemotherapy for metastatic renal medullary carcinoma and collecting duct carcinoma. The results showed that the addition of bevacizumab did not provide additional benefits and was associated with higher toxicity. Therefore, chemotherapy remains a treatment option for patients with these types of cancers.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Multidisciplinary Sciences
A. Gordon Robertson, Khyati Meghani, Lauren Folgosa Cooley, Kimberly A. McLaughlin, Leigh Ann Fall, Yanni Yu, Mauro A. A. Castro, Clarice S. Groeneveld, Aurelien de Reynies, Vadim I. Nazarov, Vasily O. Tsvetkov, Bonnie Choy, Daniele Raggi, Laura Marandino, Francesco Montorsi, Thomas Powles, Andrea Necchi, Joshua J. Meeks
Summary: Checkpoint immunotherapy (CPI) has shown efficacy in some advanced-stage bladder cancer patients, but not all. By analyzing tumor and immune microenvironment in pre- and post-treatment tumors, researchers identified genetic and transcriptomic programs associated with response or resistance to CPI. They also discovered that inhibiting the histone demethylase KDM5B enhances immunogenicity in certain subtypes of bladder cancer.
NATURE COMMUNICATIONS
(2023)
Meeting Abstract
Oncology
Jean-Eudes Le Douget, Julien Taieb, Paul Jacob, Frederic Bibeau, Karine Le Malicot, Jean-Francois Emile, Aurelien de Reynies, Mehdi Morel, Simon Jegou, Come Lepage, Pierre Laurent-Puig