Article
Medicine, General & Internal
Shen-Yi Lian, Lu-Xin Tan, Xin-Zhi Liu, Lu-Jing Yang, Ning-Ning Li, Qing Feng, Ping Wang, Yue Wang, Dong-Bo Qiao, Li-Xin Zhou, Ting-Ting Sun, Lin Wang, Ai-Wen Wu, Zhong-Wu Li
Summary: This study assessed the clinicopathological features and prognostic values of KRAS, NRAS, BRAF, and DNA mismatch repair status in colorectal cancer (CRC) in developing countries. The mutation frequencies of KRAS, NRAS, and BRAF were 41.7%, 1.6%, and 3.8%, respectively. KRAS mutations and deficient mismatch repair (dMMR) status were associated with aggressive biological behaviors and poor differentiation, while BRAF (V600E) mutations were associated with well-differentiated tumors. The dMMR status predicted longer overall survival in all CRC patients.
Article
Medicine, General & Internal
Costel Stelian Brinzan, Mariana Aschie, Georgeta Camelia Cozaru, Mariana Deacu, Eugen Dumitru, Ionut Burlacu, Anca Mitroi
Summary: In this study, the mutation frequencies of genes in Romanian colorectal cancer patients were analyzed and compared with clinicopathological variables. The results showed correlations between these mutations and distant metastasis at diagnosis, MSI-H, proximal colon location, and well/moderately differentiated tumors. The findings of this study are generally consistent with data from other populations.
Article
Biochemistry & Molecular Biology
Ivo Gokmen, Ebru Tastekin, Nazan Demir, Erkan Ozcan, Fahri Akgul, Muhammed Bekir Hacioglu, Bulent Erdogan, Sernaz Topaloglu, Irfan Cicin
Summary: The aim of this study was to investigate the incidence, molecular patterns, and associations with clinical parameters of KRAS/NRAS and BRAF mutations in colorectal cancer. KRAS mutation was the most common, with KRAS G12D being the most common mutation pattern. BRAF(V600E) was the most common BRAF mutation. Furthermore, there were associations observed between these mutations and age, gender, and tumor localization.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Aleksandr S. Martianov, Natalia V. Mitiushkina, Anastasia N. Ershova, Darya E. Martynenko, Mikhail G. Bubnov, Priscilla Amankwah, Grigory A. Yanus, Svetlana N. Aleksakhina, Vladislav I. Tiurin, Aigul R. Venina, Aleksandra A. Anuskina, Yuliy A. Gorgul, Anna D. Shestakova, Mikhail A. Maidin, Alexey M. Belyaev, Liliya S. Baboshkina, Aglaya G. Iyevleva, Evgeny N. Imyanitov
Summary: This study analyzed the factors influencing the distribution of actionable genetic alterations in colorectal carcinomas. The study found that there were differences in the distribution of certain genetic alterations based on patients' age and gender. BRAF mutation frequency also showed geographic variation. In addition, a small fraction of CRCs had simultaneous alterations in more than one driver gene.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Vlad-Adrian Afrasanie, Mihai-Vasile Marinca, Bogdan Gafton, Teodora Alexa-Stratulat, Alexandra Rusu, Eliza-Maria Froicu, Daniel Sur, Cristian Virgil Lungulescu, Larisa Popovici, Andrei-Vlad Lefter, Irina Afrasanie, Anca-Viorica Ivanov, Lucian Miron, Cristina Rusu
Summary: In this study, the frequency, distribution, coexistence, and clinicopathological and molecular correlations of RAS, BRAF, PIK3CA, and TP53 mutations were investigated in 104 patients with metastatic colorectal cancer from Northeastern Romania. TP53 was the most frequently mutated gene (73.1%), followed by KRAS (45.2%) and PIK3CA (6.7%). The study provides novel insights into genetic variations specific to the population from Northeastern Romania and enables the development of genetic profiles in a developing country with limited access to specialized genetic tests.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Sun Mi Lee, Chang Ohk Sung
Summary: Poorly differentiated neuroendocrine carcinoma (NEC) of the colorectum is a rare subtype of colorectal cancer with poor prognosis and high rates of metastasis, showing high frequencies of BRAF and RB1 mutations.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Aleksandra Bozyk, Pawel Krawczyk, Katarzyna Reszka, Kinga Krukowska, Agnieszka Kolak, Slawomir Mandziuk, Kamila Wojas-Krawczyk, Rodryg Ramlau, Janusz Milanowski
Summary: This study found that mutations in the KRAS, NRAS and BRAF genes are not random and depend on the localization of colorectal cancer tumors. The mutation detection rate was significantly higher in women than in men, and tumors in the rectum and sigmoid colon were the most commonly observed in all patients.
ARCHIVES OF MEDICAL SCIENCE
(2022)
Article
Genetics & Heredity
Omar Baba, Aram Bidikian, Deborah Mukherji, Ali Shamseddin, Sally Temraz, Najla Fakhruddin, Mira Khazzouh, Diana Ghizzawi, Rabab Abdel Khalek, Ghazi Zaatari, Rami Mahfouz
Summary: This study reviewed the frequencies of KRAS, NRAS and BRAF gene mutations in Lebanese CRC patients, finding that the mutation rates were similar to other populations, but the rate of BRAF mutation was lower than expected.
Article
Medical Laboratory Technology
Zohreh Mirzapoor . Abbasabadi, Dariush Hamedi Asl, Babak Rahmani, Rozhin Shahbadori, Sara Karami, Amir Peymani, Sara Taghizadeh, Fatemeh Samiee Rad
Summary: The limited genetic profile of colorectal cancer (CRC) patients in Iran, except for KRAS exon2 and BRAF V600F mutations, was investigated in this study. Mutations in KRAS, NRAS, BRAF, and PIK3CA were identified and their relationships with clinicopathological features of CRC were explored.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Article
Oncology
Jonathan M. Loree, Yucai Wang, Muddassir A. Syed, Alexey Sorokin, Oluwadara Coker, Joanne Xiu, Benjamin A. Weinberg, Ari M. Vanderwalde, Anteneh Tesfaye, Victoria M. Raymond, Benjamin Miron, Gabi Tarcic, Ori Zelichov, Russell R. Broaddus, Patrick Kwok Shing Ng, Kang Jin Jeong, Yiu Huen Tsang, Gordon B. Mills, Michael J. Overman, Axel Grothey, John L. Marshall, Scott Kopetz
Summary: The study identified a high prevalence of atypical RAS mutations in colorectal cancer patients, which were associated with poor prognosis. Activating atypical variants were the most common in clinical cohorts, providing the best evidence to guide treatment.
CLINICAL CANCER RESEARCH
(2021)
Article
Medicine, General & Internal
Juanzi Zeng, Wenwei Fan, Jiaquan Li, Guowu Wu, Heming Wu
Summary: The study found that KRAS and NRAS gene mutations are associated with distant metastasis in colorectal cancer, while BRAF and PIK3CA gene mutations are associated with poor tumor differentiation. These results contribute to a better understanding of the relationship between clinicopathological characteristics and gene mutations in colorectal cancer patients.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2023)
Article
Oncology
Yang Li, Jun Xiao, Tiancheng Zhang, Yanying Zheng, Hailin Jin
Summary: This study investigated the characteristics of KRAS, NRAS, and BRAF mutations and microsatellite instability (MSI) in early colorectal cancer (ECRC) patients. It found that KRAS mutation can serve as an independent prognostic factor for ECRC patients. However, postoperative chemotherapy may not benefit ECRC patients.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Leandro Guettlein, Maria R. Luca, Federico Esteso, Cristobal Fresno, Javier Mariani, Mercedes Otero Pizarro, Esteban Brest, Solange Starapoli, Kevin Kreimberg, Paula Teves, Andrea Mendoza Bertelli, Maria R. Girotti, Ruben Salanova, Juan M. O'Connor
Summary: This study analyzed the frequency of KRAS, NRAS, and BRAF hotspot mutations in ctDNA from patients with mCRC. The results suggest that these mutations are associated with overall survival and progression-free survival in these patients.
Article
Medicine, Research & Experimental
Xiao-na Chang, Fu-mei Shang, Hong-yu Jiang, Chen Chen, Zhe-yan Zhao, Sheng-he Deng, Jun Fan, Xiao-chuan Dong, Ming Yang, Yan Li, Kai-lin Cai, Li Liu, Hong-li Liu, Xiu Nie
Summary: In Central China, the incidence of colorectal cancer is rising, with high mortality rates. The mutation frequency of KRAS/NRAS/BRAF genes in CRC patients is significant, with BRAF mutation being associated with prognosis.
CURRENT MEDICAL SCIENCE
(2021)
Article
Surgery
Wenju Chang, Yijiao Chen, Shizhao Zhou, Li Ren, Yuqiu Xu, Dexiang Zhu, Wentao Tang, Qinghai Ye, Xiaoying Wang, Jia Fan, Ye Wei, Jianmin Xu
Summary: Patients with gene mutation or right-sidedness can benefit more from anatomical resection for colorectal liver metastases.
INTERNATIONAL JOURNAL OF SURGERY
(2023)
Letter
Oncology
Serena Ammendola, Valeria Barresi
BRAIN TUMOR PATHOLOGY
(2022)
Article
Clinical Neurology
Valeria Barresi, Andrea Mafficini, Martina Calicchia, Maria Liliana Piredda, Angelo Musumeci, Claudio Ghimenton, Aldo Scarpa
Summary: We report a case of oligodendroglioma recurrence with consistent histopathological features but distinct changes in 1p/19q status. The two tumor recurrences are likely derived from the same neoplastic clone, featuring 1p/19q codeletion and IDH1 and TERT promoter mutations, but independently acquiring other copy number alterations.
Letter
Dermatology
Camilla Chello, Stefania Caramaschi, Alberto Sticchi, Andrea Naselli, Claudia Pezzini, Francesca Farnetani, Luca Reggiani Bonetti, Silvana Ciardo, Eleonora Di Matteo, Giovanni Pellacani, Marco Manfredini
JOURNAL OF COSMETIC DERMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Paola Sena, Stefano Mancini, Monica Pedroni, Luca Reggiani Bonetti, Gianluca Carnevale, Luca Roncucci
Summary: Colorectal cancer is one of the three most common cancers in Western industrialized countries, with a lifetime risk of 6% in developed countries. Recent studies have shown distinct differences in epidemiology, pathogenesis, genetic and epigenetic alterations, molecular pathways and outcome depending on the anatomical site of the cancer. This study aimed to assess the association between metabolic status and inflammatory and autophagic changes in different parts of the colorectal mucosa, as well as the presence of adenomas.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Nutrition & Dietetics
Milena Nasi, Anna De Gaetano, Gianluca Carnevale, Laura Bertoni, Valentina Selleri, Giada Zanini, Alessandra Pisciotta, Stefania Caramaschi, Luca Reggiani Bonetti, Alberto Farinetti, Andrea Cossarizza, Marcello Pinti, Antonio Manenti, Anna Vittoria Mattioli
Summary: Energy drinks may not cause acute damage to the gastrointestinal tract, but they can induce eosinophilic infiltration in the intestinal mucosa, likely due to the presence of caffeine.
Article
Oncology
Massimiliano Salati, Luigi Marcheselli, Carlo Messina, Valeria Merz, Marco Messina, Pietro Carotenuto, Francesco Caputo, Fabio Gelsomino, Andrea Spallanzani, Luca Reggiani Bonetti, Stefania Caramaschi, Gabriele Luppi, Massimo Dominici, Michele Ghidini
Summary: The study developed a scoring system that can stratify the risk of advanced biliary cancer patients treated with second-line chemotherapy. The scoring system identified different risk groups with distinct overall survival. The system was validated in a multicenter cohort of ABC cases.
CANCER MANAGEMENT AND RESEARCH
(2022)
Article
Neurosciences
Giuseppe Broggi, Roberto Altieri, Valeria Barresi, Francesco Certo, Giuseppe Maria Vincenzo Barbagallo, Magda Zanelli, Andrea Palicelli, Gaetano Magro, Rosario Caltabiano
Summary: The extent of resection beyond the enhancing core in GBM, IDHwt is a controversial topic in neuro-oncology. This study provides a comprehensive description of the histological features of FLAIR hyperintensity regions, which are often visible beyond the conventional EC. The histological analysis reveals that FLAIR areas consist of infiltrated white matter, reactive astrogliosis with grey matter, and tumor tissue.
Letter
Clinical Neurology
Giuseppe Broggi, Valeria Barresi
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2023)
Article
Pathology
Valeria Barresi, Serena Ammendola, Michele Simbolo, Serena Pedron, Maria Caffo, Aldo Scarpa
Summary: The use of adjuvant radiotherapy for atypical meningiomas after complete resection is controversial. Recent studies have suggested that molecular classification based on ACADL and MCM2 immunostaining can identify high-risk meningiomas. In a study of 55 primary atypical meningiomas, ACADL and MCM2 immuno-expression were found to be associated with increased recurrence risk and shorter recurrence-free survival.
Review
Oncology
Elena Marastoni, Valeria Barresi
Summary: Meningiomas are classified into three main groups based on their genetic features, which can predict their clinical outcomes and recurrence risk more accurately than the current grading system established by WHO. These groups have distinct characteristics and may respond differently to treatments, providing valuable insights for personalized medicine approaches.
Article
Medicine, General & Internal
Elisa Bellei, Stefania Caramaschi, Giovanna A. Giannico, Emanuela Monari, Eugenio Martorana, Luca Reggiani Bonetti, Stefania Bergamini
Summary: In the diagnosis of suspected prostate cancer (PCa), tissue needle biopsy remains the standard despite its invasiveness and poor tolerability. This study aimed to identify new diagnostic biomarkers in urine to discriminate PCa from BPH, considering the presence of inflammation. The analysis revealed significant differences in the urinary proteomic profile between PCa and BPH groups, with only five proteins unaffected by inflammation considered as potential biomarkers of PCa.
Article
Clinical Neurology
Filippo Maria Martelli, Elena Marastoni, Valeria Barresi
Summary: The tumor exhibit extensive microcalcifications and cells with oval nuclei and a clear perinuclear halo. It shows positive immunostaining for OLIG-2, GFAP, and CD34, and has intermingled Neu-N-positive neurons. FISH analysis reveals multiple signals for the centromere of chromosome 7 (gains) and the EGFR locus (red probe) (gains), and a single signal for the centromere of chromosome 10 (loss).
Article
Oncology
Marika Quadri, Natascia Tiso, Francesco Musmeci, Maria I. I. Morasso, Stephen R. R. Brooks, Luca Reggiani Bonetti, Rossana Panini, Roberta Lotti, Alessandra Marconi, Carlo Pincelli, Elisabetta Palazzo
Summary: This study found differential expression of CD271 in low-risk and high-risk cSCC tumors, and demonstrated that CD271 activity can decrease the proliferation and invasiveness of cSCC, while promoting tumor cell differentiation. CD271 also inhibits the metastatic process of cSCC and increases sensitivity to therapy. Therefore, CD271 may be a promising target for future pharmaceutical development.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Rina Di Bonaventura, Maurizio Martini, Tonia Cenci, Valerio Maria Caccavella, Valeria Barresi, Marco Gessi, Alessio Albanese, Liverana Lauretti, Roberto Pallini, Quintino Giorgio D'Alessandris, Alessandro Olivi
Summary: Meningiomas, mostly benign tumors, can sometimes display aggressive behavior and recurrence despite complete resection. This study investigated the role of SOX2 in predicting the aggressiveness of meningioma and found that SOX2 expression at first surgery is strongly related to the clinical behavior, histological grade, and risk of recurrence of meningioma. Additionally, SOX2 expression is associated with overall and recurrence-free survival in patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Serena Ammendola, Michele Simbolo, Chiara Ciaparrone, Paola Chiara Rizzo, Maria Caffo, Giampietro Pinna, Francesco Sala, Aldo Scarpa, Valeria Barresi
Summary: Intraventricular meningiomas are rare brain tumors with potentially life-threatening complications during surgical resection. This study characterizes the molecular profile of these tumors and identifies NF2 mutation as a recurring alteration. These findings provide potential therapeutic targets for the treatment of these tumors.