Review
Biochemistry & Molecular Biology
Karpinski Pawel, Sasiadek Maria Malgorzata
Summary: The CpG island methylator phenotype (CIMP) is an important manifestation of epigenetic instability in cancer. It has been extensively studied in various tumor types, but its use as a diagnostic marker and therapeutic target in solid tumors is limited by the lack of generalizability and reproducibility of epigenetic markers, as well as its poor predictive value in clinical outcomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Kuo-Hsing Chen, Liang-In Lin, Chang-Tsu Yuan, Li-Hui Tseng, Yu-Liang Chao, Yi-Hsin Liang, Jin-Tung Liang, Been-Ren Lin, Ann-Lii Cheng, Kun-Huei Yeh
Summary: In Taiwan, distinct clinicopathological features were identified for CIMP-high CRC among different age groups. Our data suggest the association between BMI >= 27.5 kg/m(2) and CIMP-high CRC in patients younger than 50 years.
BRITISH JOURNAL OF CANCER
(2021)
Article
Oncology
Bjornar T. B. Flatin, Hege Marie Vedeld, Rita Pinto, Jonas Langerud, Guro E. Lind, Ragnhild A. Lothe, Anita Sveen, Marine Jeanmougin
Summary: Intratumor heterogeneity of colorectal cancers (CRCs) is mainly reflected in the genomic and epigenomic levels. Our study revealed that CIMP status in primary CRCs is consistent, although spatial discrepancies in individual genes indicate the potential of large-scale analysis of multiregional samples to identify robust CIMP markers for intratumor heterogeneity.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Biochemical Research Methods
Josephine Yates, Valentina Boeva
Summary: This study utilized a pan-cancer approach to define and explore CpG island methylator phenotype (CIMP) in 26 cancer types. The results confirmed the existence of CIMP in 19 cancers, showed its association with survival differences in eight cancer types, and identified potential drivers of CIMP. The study also found that CIMP was strongly correlated with tumor microenvironment characteristics.
BRIEFINGS IN BIOINFORMATICS
(2022)
Editorial Material
Cell Biology
Gayathri Anandappa, Michael J. Overman
Summary: In a recent study, Amodio and colleagues discovered a method to modulate immunosurveillance in colorectal tumors by manipulating DNA mismatch repair heterogeneity. They found that enriching the MMR deficient component using 6-thioguanine can improve tumor control in murine models.
CELL REPORTS MEDICINE
(2023)
Article
Oncology
Roel M. M. Bogie, Chantal M. C. le Clercq, Quirinus J. M. Voorham, Martijn Cordes, Daoud Sie, Christian Rausch, Evert van den Broek, Sara D. J. de Vries, Nicole C. T. van Grieken, Robert G. Riedl, Prapto Sastrowijoto, Ernst-Jan Speel, Rein Vos, Bjorn Winkens, Manon van Engeland, Bauke Ylstra, Gerrit A. Meijer, Ad A. M. Masclee, Beatriz Carvalho
Summary: PCCRCs are more commonly located proximally, non-polypoid appearing, early stage, and poorly differentiated compared to DCRCs. They also show significantly less 18q loss and are more commonly CIMP high and MSI. Molecular features associated with sessile serrated lesions and non-polypoid colorectal neoplasms may contribute to the development of PCCRCs.
BRITISH JOURNAL OF CANCER
(2022)
Review
Oncology
Xiaofei Zhang, Wenjun Zhang, Pingan Cao
Summary: As the population ages in China, the incidence of colorectal cancer is on the rise, with CpG island methylator phenotype (CIMP) playing an important role in its development. Recent studies have shown a close relationship between CIMP and specific clinicopathological phenotypes and multiple molecular phenotypes in colorectal cancer. This paper introduces the latest progress on CIMP colorectal cancer in terms of chemotherapeutic drugs, targeted agents, and small molecular methylation inhibitors, aiming to provide potential clinical treatment strategies for personalized and precise treatment of colorectal cancer patients.
FRONTIERS IN ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Vitaly Shubin, Yury Shelygin, Sergey Achkasov, Oleg Sushkov, Ilya Nazarov, Alexey Ponomarenko, Iuliia Alimova, Anna Loginova, Aleksey Tsukanov
Summary: The aim of this study was to determine the characteristics of Russian patients with microsatellite instability (MSI) tumors. The results showed that patients with MSI tumors differed in the age of diagnosis, tumor localization, time of cancer recurrence, and stage of the disease. Patients whose tumors had MSI status had higher overall and disease-free survival rates.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Surgery
Olusegun Alatise, Gregory C. Knapp, Brendan Bebington, Patrick Ayodeji, Anna Dare, Jeremy Constable, Olalekan Olasehinde, T. Peter Kingham
Summary: This study compared clinicopathologic variables between CRC patients in Nigeria and South Africa, revealing significant differences in presentation and survival between the two countries.
WORLD JOURNAL OF SURGERY
(2022)
Article
Multidisciplinary Sciences
Inas Elsayed, Robert Geraghty, Salwa O. Mekki, Ahmed A. Mohamedani, Susan Ahern, Omer E. H. Salim, Balgis B. M. Khalil, Sawsan Abdelrahim, Suliman H. Suliman, Moawia M. A. Elhassan, Salah O. Salah, Mohamed E. Salih, Abubakr H. Widatalla, Osman S. Abdelhamed, Xiaosheng Wang, Eanna J. Ryan, Des Winter, Salih Bakhiet, Kieran Sheahan
Summary: There is a significant clinical need for molecular pathology services for colorectal cancer in Sudan. In this study, researchers aimed to introduce a molecular genetic service for colorectal cancer in Sudan and explore the molecular features and their relationship to patient survival and clinicopathological characteristics. They found that a subtype of mismatch repair deficient colorectal cancer was present in 16% of cases, and a presumptive diagnosis of Lynch Syndrome was made in 14% of patients. The study also revealed a high mortality rate in Sudanese colorectal cancer patients, which was correlated with advanced disease stage and mismatch repair status.
SCIENTIFIC REPORTS
(2022)
Review
Immunology
Wei-Jian Mei, Mi Mi, Jing Qian, Nan Xiao, Ying Yuan, Pei-Rong Ding
Summary: Colorectal cancers with high microsatellite instability and deficient mismatch repair have different characteristics compared to normal CRC, but the testing rates for MSI and MMR remain low in clinical practice. Insufficient testing fails to identify patients with these types of CRC who could benefit from immunotherapy. Understanding the importance of MMR/MSI status in the clinical characteristics and prognosis of CRC may help improve testing rates and guide the development of more effective therapies.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Oncology
Sophia J. Wagner, Daniel Reisenbuechler, Nicholas P. West, Jan Moritz Niehues, Jiefu Zhu, Sebastian Foersch, Gregory Patrick Veldhuizen, Philip Quirke, Heike I. Grabsch, Piet A. van den Brandt, Gordon G. A. Hutchins, Susan D. Richman, Tanwei Yuan, Rupert Langer, Josien C. A. Jenniskens, Kelly Offermans, Wolfram Mueller, Richard Gray, Stephen B. Gruber, Joel K. Greenson, Gad Rennert, Joseph D. Bonner, Daniel Schmolze, Jitendra Jonnagaddala, Nicholas J. Hawkins, Robyn L. Ward, Dion Morton, Matthew Seymour, Laura Magill, Marta Nowak, Jennifer Hay, Viktor H. Koelzer, David N. Church, Christian Matek, Carol Geppert, Chaolong Peng, Cheng Zhi, Xiaoming Ouyang, Jacqueline A. James, Maurice B. Loughrey, Manuel Salto-Tellez, Hermann Brenner, Michael Hoffmeister, Daniel Truhn, Julia A. Schnabel, Melanie Boxberg, Tingying Peng, Jakob Nikolas Kather
Summary: This study develops a new transformer-based pipeline for predicting prognostic biomarkers from colorectal cancer pathology slides. The results show that this approach significantly improves performance, generalizability, data efficiency, and interpretability compared to current algorithms. The method also solves a longstanding diagnostic problem by achieving clinical-grade performance on endoscopic biopsy tissue.
Article
Multidisciplinary Sciences
Olusegun Isaac Alatise, Gregory C. Knapp, Avinash Sharma, Walid K. Chatila, Olukayode A. Arowolo, Olalekan Olasehinde, Olusola C. Famurewa, Adeleye D. Omisore, Akinwumi O. Komolafe, Olaejinrinde O. Olaofe, Aba I. Katung, David E. Ibikunle, Adedeji A. Egberongbe, Samuel A. Olatoke, Sulaiman O. Agodirin, Olusola A. Adesiyun, Ademola Adeyeye, Oladapo A. Kolawole, Akinwumi O. Olakanmi, Kanika Arora, Jeremy Constable, Ronak Shah, Azfar Basunia, Brooke Sylvester, Chao Wu, Martin R. Weiser, Ken Seier, Mithat Gonen, Zsofia K. Stadler, Yelena Kemel, Efsevia Vakiani, Michael F. Berger, Timothy A. Chan, David B. Solit, Jinru Shia, Francisco Sanchez-Vega, Nikolaus Schultz, Murray Brennan, J. Joshua Smith, T. Peter Kingham
Summary: Understanding the molecular and phenotypic profile of colorectal cancer (CRC) in West Africa is crucial for addressing the rising burden of disease, as shown by a study comparing Nigerian CRC patients to those from TCGA and MSKCC. High microsatellite instability, differences in genetic mutations, and presentation characteristics suggest a unique biology of CRC in Nigeria that requires tailored diagnostic and treatment approaches.
NATURE COMMUNICATIONS
(2021)
Article
Oncology
Satoshi Fujii, Daisuke Kotani, Masahiro Hattori, Masato Nishihara, Toshihide Shikanai, Junji Hashimoto, Yuki Hama, Takuya Nishino, Mizuto Suzuki, Ayatoshi Yoshidumi, Makoto Ueno, Yoshito Komatsu, Toshiki Masuishi, Hiroki Hara, Taito Esaki, Yoshiaki Nakamura, Hideaki Bando, Tomoyuki Yamada, Takayuki Yoshino
Summary: This study utilized deep learning techniques to extract pathomorphologic features from tissue section images, enabling the accurate prediction of genetic abnormalities in cancer. The results demonstrated high accuracy of this method and its potential for predicting genetic abnormalities without the need for gene tests.
CLINICAL CANCER RESEARCH
(2022)
Article
Pathology
Huu-Giao Nguyen, Oxana Lundstroem, Annika Blank, Heather Dawson, Alessandro Lugli, Maria Anisimova, Inti Zlobec
Summary: This study investigated the association between CMS classification and mucin-to-tumor area using a deep learning algorithm, and explored the expression of specific mucins in predicting CMS groups and clinical outcomes. The inter-observer agreement between pathologists' scores and the algorithm was excellent. The absence of mucin-expressing tumors in CMS2 provides an important phenotype-genotype correlation, and MUC5AC protein expression correlated with aggressive tumor features.
Article
Multidisciplinary Sciences
Ivan Vannini, Manuela Ferracin, Francesco Fabbri, Muller Fabbri
Summary: The expression of non-coding RNAs is dysregulated in human cancers, particularly the transcribed ultraconserved regions (T-UCRs). In lung cancer, uc.83-, an antisense ultraconserved element, is upregulated and plays a role in cell growth. AKT and ERK 1/2 signaling pathways are involved in the oncogenic function of uc.83-. Inhibition of uc.83- could be a potential therapeutic treatment for non-small cell lung cancer.
Article
Peripheral Vascular Disease
Luca Traina, Marianna Mucignat, Roberta Rizzo, Roberta Gafa, Daria Bortolotti, Angelina Passaro, Paolo Zamboni
Summary: The SARS-CoV-2 pandemic has posed challenges for the international healthcare system and patient treatment and survival. This article presents a case of a so called Covid-19 negative patient who exhibited an unsuspected vascular clinical onset of the viral infection.
Article
Biology
Beatrice Maranini, Giovanni Ciancio, Manuela Ferracin, Rosario Cultrera, Massimo Negrini, Silvia Sabbioni, Marcello Govoni
Summary: In this review, the role of ncRNAs in the immune system crosstalk during SARS-CoV-2 infection, specifically focusing on inflammatory pathways and cytokine storm syndromes, is discussed. The study aims to investigate the interaction between SARS-CoV-2 and the host, exploring the potential of miRNA-based therapeutics in tackling SARS-CoV-2 complications.
Article
Medicine, General & Internal
Gabriele Donati, Chiara Abenavoli, Gisella Vischini, Giovanna Cenacchi, Roberta Costa, Gianandrea Pasquinelli, Manuela Ferracin, Noemi Laprovitera, Giorgia Comai, Giorgio Monti, Fabrizio Giostra, Gaetano La Manna
Summary: This study presents a case of rhabdomyolysis caused by SARS-CoV-2 infection. The patient had unknown sickle cell trait and developed acute kidney injury, requiring acute hemodialysis. Pathological examination confirmed rhabdomyolysis injury, but no viral traces were found in the kidney biopsy samples. The mechanisms of SARS-CoV-2-induced rhabdomyolysis are discussed, and it is suggested to test for sickle cell trait in African patients.
AMERICAN JOURNAL OF CASE REPORTS
(2022)
Article
Pathology
Giorgio Durante, Elisabetta Broseghini, Francesca Comito, Maria Naddeo, Massimo Milani, Irene Salamon, Elena Campione, Emi Dika, Manuela Ferracin
Summary: Skin cancer is the most common type of cancer, with specific microRNAs dysregulated in each skin cancer type, serving as potential biomarkers for disease presence, stage, evolution, or therapy efficacy. The development of methodological guidelines and standardized protocols for circulating miRNA quantification in clinical settings is expected.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2022)
Article
Oncology
Mariasole Perrone, Edoardo Raimondi, Matilde Costa, Gianluca Rasetto, Roberto Rizzati, Giovanni Lanza, Roberta Gafa, Giorgio Cavallesco, Nicola Tamburini, Pio Maniscalco, Maria Cristina Mantovani, Umberto Tebano, Manuela Coeli, Sonia Missiroli, Massimo Tilli, Paolo Pinton, Carlotta Giorgi, Francesco Fiorica
Summary: Despite advances in treatments and research, the prognosis for non-small cell lung cancer (NSCLC) remains poor. This study investigated the correlation between inflammatory radiomic features and clinical outcomes in NSCLC patients. By analyzing computed tomography (CT) images, the researchers identified specific radiomic signatures that accurately predicted patients' inflammatory levels and clinical outcomes. They developed and validated a radiomic model to predict the evolution pattern of NSCLC tumors in a non-invasive way, allowing for personalized and accelerated patient management.
Article
Oncology
Elisa Mazzoni, Ilaria Bononi, John Charles Rotondo, Chiara Mazziotta, Roberta Libener, Roberto Guaschino, Roberta Gafa, Giovanni Lanza, Fernanda Martini, Mauro Tognon
Summary: Malignant pleural mesothelioma (MPM) is associated with asbestos exposure, and the study found a link between MPM and simian virus 40 (SV40), with the expression of SV40 in line with the detection of antibodies in patients.
JOURNAL OF ONCOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Sonia Missiroli, Mariasole Perrone, Roberta Gafa, Francesco Nicoli, Massimo Bonora, Giampaolo Morciano, Caterina Boncompagni, Saverio Marchi, Magdalena Lebiedzinska-Arciszewska, Bianca Vezzani, Giovanni Lanza, Franz Kricek, Alessandro Borghi, Francesco Fiorica, Keisuke Ito, Mariusz R. Wieckowski, Francesco Di Virgilio, Luigi Abelli, Paolo Pinton, Carlotta Giorgi
Summary: Uncontrolled inflammatory response from the tumor microenvironment significantly contributes to cancer progression. A trimeric complex at the mitochondria-associated membranes, involving P2X7 receptor-NLRP3 inflammasome interaction, is regulated by the tumor suppressor PML. Downregulation of PML leads to an exacerbated immune response and boosted tumor growth. Mislocalization of PML results in uncontrolled NLRP3 activation and cytokine production, fueling cancer development and worsening prognosis in various human cancers. Mechanistic insights into the PML-P2X7R-NLRP3 axis provide new opportunities for targeted therapeutic approaches in human carcinogenesis.
CELL DEATH AND DIFFERENTIATION
(2023)
Article
Developmental Biology
Giovanna Schiuma, Silvia Beltrami, Erica Santi, Gennaro Scutiero, Juana Maria Sanz, Chiara Marina Semprini, Sabrina Rizzo, Mercedes Fernandez, Ines Zidi, Roberta Gafa, Angelina Passaro, Pantaleo Greco, Daria Bortolotti, Roberta Rizzo
Summary: Recent studies have shown differential expression of ACE2 and CD147 in pregnant women with SARS-CoV-2 placental infection. This study aimed to investigate placental SARSCoV-2 infection and its potential effect on protein expression. The results revealed a higher percentage of SARS-CoV-2 NP positive placental samples in the group positive for SARS-CoV-2 at delivery compared to the negative group.
Review
Endocrinology & Metabolism
Ludovica Aliberti, Irene Gagliardi, Roberta Rizzo, Daria Bortolotti, Giovanna Schiuma, Paola Franceschetti, Roberta Gafa, Luca Borgatti, Michele A. Cavallo, Maria C. Zatelli, Maria R. Ambrosio
Summary: We report a case of pituitary apoplexy following COVID-19 vaccine, with MRI showing recent bleeding and pathology report revealing SARS-CoV-2 protein, suggesting possible pre-existing pituitary infection prior to vaccination.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Elisabetta Broseghini, Daria Maria Filippini, Laura Fabbri, Roberta Leonardi, Andi Abeshi, Davide Dal Molin, Matteo Fermi, Manuela Ferracin, Ignacio Javier Fernandez
Summary: Laryngeal squamous cell cancer (LSCC) is a common malignant tumor in the head and neck region with a poor prognosis. Tobacco smoking and alcohol abuse are the main risk factors. Identifying effective diagnostic and prognostic biomarkers, such as microRNAs (miRNAs), for LSCC is crucial for disease management and improving clinical outcomes. This systematic review provides an overview of tissue and circulating miRNAs and their potential role in diagnosing and predicting LSCC.
Review
Biochemistry & Molecular Biology
Maria Sofia Ciliento, Veronica Venturelli, Natale Schettini, Riccardo Bertola, Carlo Garaffoni, Giovanni Lanza, Roberta Gafa, Alessandro Borghi, Monica Corazza, Alen Zabotti, Sonia Missiroli, Caterina Boncompagni, Simone Patergnani, Mariasole Perrone, Carlotta Giorgi, Paolo Pinton, Marcello Govoni, Carlo Alberto Scire, Alessandra Bortoluzzi, Ettore Silvagni
Summary: The aim of this systematic literature review was to investigate the effects of b/tsDMARDs on the synovial membrane of PsA patients and identify biomarkers of response to therapy. A meta-analysis of 22 studies showed a significant reduction in CD3+ lymphocytes and CD68+ macrophages in synovial biopsies from patients treated with bDMARDs for 4-12 weeks. Reduction in CD3+ was correlated with clinical response. The most consistent finding in the literature was the reduction in CD3+/CD68+ sublining cells during the first 3 months of treatment with TNF inhibitors.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Medicine, General & Internal
Daria Maria Filippini, Elisabetta Broseghini, Francesca Carosi, Davide Dal Molin, Mattia Riefolo, Laura Fabbri, Andi Abeshi, Ignacio Javier Fernandez, Manuela Ferracin
Summary: Head and neck cancer of unknown primary (HNCUP) refers to cervical lymph node metastases without an identifiable primary tumor. The management of HNCUP patients is challenging due to controversial guidelines in diagnosis and treatment. This systematic review presents available data on diagnostic and prognostic molecular biomarkers for HNCUP, with HPV and EBV being the only biomarkers currently used in clinical practice. Improved molecular profiling and development of tissue-of-origin classifiers are necessary for better diagnosis, staging, and therapeutic management of HNCUP patients.
Article
Biochemistry & Molecular Biology
Stefano Miglietta, Giulia Girolimetti, Lorena Marchio, Manuela Sollazzo, Noemi Laprovitera, Sara Coluccelli, Dario De Biase, Antonio De Leo, Donatella Santini, Ivana Kurelac, Luisa Iommarini, Anna Ghelli, Davide Campana, Manuela Ferracin, Anna Myriam Perrone, Giuseppe Gasparre, Anna Maria Porcelli
Summary: This article analyzes a case of SCCOPT and provides in-depth characterization of its features and characteristics. SCCOPT is a rare and aggressive tumor with poor prognosis, and its biology and molecular features have not been thoroughly investigated yet. The analysis of miRNA expression profile and metabolic markers can provide useful information for future diagnoses.
