Article
Chemistry, Multidisciplinary
Raluca-Ioana Stefan-van Staden, Alexandru Adrian Bratei, Ruxandra-Maria Ilie-Mihai, Damaris-Cristina Gheorghe, Bianca Maria Tuchiu, Simona Gurzu
Summary: Two miniaturized electrochemical devices were developed for simultaneous bioanalysis of MMR and KRAS. The devices utilized a 3D stochastic microsensor modified with NSB-EGR decorated with frutafit (FTEX and FHD). FHD-based microdevice showed higher sensitivity for MSH2, MSH6, KRAS, and PMS2, while FTEX-based microdevice exhibited the best sensitivity for MLH1. The validation tests demonstrated excellent recoveries and low RSD values for all analytes in different sample types.
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
Oncology
Satu Maki-Nevala, Sanjeevi Ukwattage, Alisa Olkinuora, Henrikki Almusa, Maarit Ahtiainen, Ari Ristimaki, Toni Seppala, Anna Lepisto, Jukka-Pekka Mecklin, Paivi Peltomaki
Summary: Ulcerative colitis increases the risk of colorectal cancer, and this study examined the genetic and epigenetic profiles of colitis-associated colorectal carcinomas (CA-CRC). Subgroups within CA-CRC were identified with different mutational loads and signatures, which may guide clinical management and therapy options. Lynch syndrome tumors showed a higher degree of hypermutability compared to CA-CRC subgroups.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Review
Oncology
Zhenli Diao, Yanxi Han, Yuqing Chen, Rui Zhang, Jinming Li
Summary: MSI is a valuable tool for identifying cancer patients who may benefit from immunotherapy, and is commonly detected through immunohistochemical methods and PCR amplification of microsatellite repeats. Next-generation sequencing and circulating tumor DNA offer promising alternatives for MSI detection when tumor tissue is not available. Additionally, MSI detection serves as an effective tool for screening Lynch syndrome and predicting outcomes and treatment responses for colorectal cancer patients.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
(2021)
Article
Cell Biology
F. Grillo, M. Paudice, A. Gambella, S. Bozzano, S. Sciallero, A. Puccini, S. Lastraioli, M. Dono, P. Parente, A. Vanoli, V. Angerilli, M. Fassan, L. Mastracci
Summary: This study aims to identify the advantages, disadvantages, and potential pitfalls of MMR evaluation on biopsy tissue for colorectal cancer. The results show that biopsy specimens often have indeterminate stains, particularly for MLH1. However, this issue can be solved by reducing primary incubation times, allowing for accurate assessment of MMR status.
HISTOCHEMISTRY AND CELL BIOLOGY
(2023)
Article
Pathology
Anne-Sophie van der Werf-'t, Diantha Terlouw, Carli M. Tops, Merel S. van Kan, Liselotte P. van Hest, Hans J. P. Gille, Floor A. M. Duijkers, Anja Wagner, Ellis L. Eikenboom, Tom G. W. Letteboer, Mirjam M. de Jong, Sanne W. Bajwa-ten Broeke, Fonnet E. Bleeker, Encarna B. Gomez Garcia, Niels de Wind, J. Tom van Wezel, Hans Morreau, Manon Suerink, Maartje Nielsen
Summary: This study aimed to identify the various causes of the discordant phenotypes in MSH6-associated Lynch syndrome, including abnormal immunohistochemical staining and mutations in the mismatch repair genes. The results suggest that genetic analysis should be considered in colorectal cancer patients with a strong family history.
Review
Oncology
Romain Cohen, Raphael Colle, Thomas Pudlarz, Maximilien Heran, Alex Duval, Magali Svrcek, Thierry Andre
Summary: Microsatellite instability (MSI) is a tumor phenotype related to a deficient DNA mismatch repair system (dMMR). This phenotype, observed in 5% of metastatic mCRC but 10-18% of localized CRC, is associated with high tumor mutational burden with highly immunogenic neoantigens. It has emerged as a major predictive biomarker for the efficacy of ICIs.
Article
Oncology
David J. Papke Papke Jr, Neal I. Lindeman, Deborah Schrag, J. Bryan Lorgulescu
Summary: Utilization of MMR/MSI testing has increased for advanced colorectal cancer patients, but there is still room for improvement. Testing rates lagged for older patients, those from the poorest households, and those managed at community cancer programs.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2022)
Review
Oncology
Shuangshuang Zhao, Lingli Chen, Yuqin Zang, Wenlu Liu, Shiqi Liu, Fei Teng, Fengxia Xue, Yingmei Wang
Summary: Lynch syndrome (LS) is caused by germline pathogenic variants in mismatch repair (MMR) genes, leading to LS-associated endometrial cancer (LS-EC) which has specific clinicopathologic features. Screening, diagnosis, surveillance, prevention and treatment for LS-EC have significantly advanced, with recommendations for universal LS screening among EC patients.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Immunology
Qun Zhang, Jing Hu, Yaping Zhang, Li Li, Ting Wang, Xiaoping Qian
Summary: Lynch syndrome is characterized by germline mutations in DNA mismatch repair genes, leading to formation of microsatellite instability-high subtype in colorectal cancer. While CRC patients with MSI-H or dMMR status can benefit from anti-PD1 immunotherapy, around 50% do not respond due to tumor heterogeneity and abnormal activation of cancer-related signaling pathways contributing to resistance. Further exploration of resistance mechanisms is needed to improve clinical efficacy.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Oncology
Yurong Song, Travis D. Kerr, Chelsea Sanders, Lisheng Dai, Shaneen S. Baxter, Brandon Somerville, Ryan N. Baugher, Stephanie D. Mellott, Todd B. Young, Heidi E. Lawhorn, Teri M. Plona, Bingfang Xu, Lei Wei, Qiang Hu, Song Liu, Alan Hutson, Baktiar Karim, Sandra Burkett, Simone Difilippantonio, Ligia Pinto, Johannes Gebert, Matthias Kloor, Steven M. Lipkin, Shizuko Sei, Robert H. Shoemaker
Summary: This study established organoids with MSI-H characteristics for studying MMR-deficient cancer biology and developed an orthotopic model suitable for evaluating the efficacy of neoantigen-based vaccines or anticancer drugs.
FRONTIERS IN ONCOLOGY
(2023)
Article
Pathology
Miralem Mrkonjic, Gulisa Turashvili
Summary: This study assessed the use of EPM2AIP1 immunohistochemical (IHC) testing in combination with MMR proteins as a surrogate marker for MLH1 promoter methylation status. The results showed that EMP2AIP1 IHC correlated well with MLH1 promoter methylation results, suggesting its potential as an alternative method for methylation testing.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2022)
Article
Oncology
Yan Li, Lihong Fan, Jianming Zheng, Xiu Nie, Yu Sun, Qin Feng, Shenyi Lian, Wenqi Bai, Weijing Cai, Yanan Yang, Bo Su, Yanfeng Xi, Dongmei Lin
Summary: This study systematically investigated the pre-screening methods and characterized the genetic and clinical features of Lynch syndrome (LS) colorectal cancers (CRCs) in Asia. The results demonstrated that MMR IHC and MSI testing were effective methods for LS pre-screening and identified previously unreported pathogenic germline variants of MMR genes in LS patients.
CANCER BIOLOGY & MEDICINE
(2022)
Review
Oncology
Aysel Ahadova, Toni T. Seppala, Christoph Engel, Richard Gallon, John Burn, Elke Holinski-Feder, Verena Steinke-Lange, Gabriela Moeslein, Maartje Nielsen, Sanne W. ten Broeke, Luigi Laghi, Mev Dominguez-Valentin, Gabriel Capella, Finlay Macrae, Rodney Scott, Robert Hueneburg, Jacob Nattermann, Michael Hoffmeister, Hermann Brenner, Hendrik Blaeker, Magnus von Knebel Doeberitz, Julian R. Sampson, Hans Vasen, Jukka-Pekka Mecklin, Pal Moller, Matthias Kloor
Summary: Despite regular colonoscopy, a significant proportion of individuals with Lynch syndrome still develop colorectal cancer, leading to debates on the reasons behind this surprising observation. Further studies are needed to address this issue and improve CRC prevention strategies for LS individuals.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Review
Oncology
Ilaria Capasso, Angela Santoro, Emanuela Lucci Cordisco, Emanuele Perrone, Francesca Tronconi, Ursula Catena, Gian Franco Zannoni, Giovanni Scambia, Francesco Fanfani, Domenica Lorusso, Simona Duranti
Summary: Lynch syndrome is a genetic condition that increases the risk of various tumors, including endometrial and ovarian cancers. Universal screening is recommended for detecting Lynch syndrome. Surgery, chemoprevention, and immunotherapy are viable options for treatment.
Review
Gastroenterology & Hepatology
P. Demetter, A. Jouret-Mourin, G. Silversmit, T. Vandendael, C. Sempoux, A. Hoorens, N. Nagy, C. Cuvelier, N. Van Damme, F. Penninckx
COLORECTAL DISEASE
(2016)
Article
Gastroenterology & Hepatology
D. Leonard, C. Remue, N. Abbes Orabi, A. van Maanen, E. Danse, A. Dragean, D. Debetancourt, Y. Humblet, A. Jouret-Mourin, F. Maddalena, A. Medina Benites, P. Scalliet, C. Sempoux, M. Van den Eynde, J. C. De Schoutheete, A. Kartheuser
COLORECTAL DISEASE
(2016)
Article
Gastroenterology & Hepatology
Christian Bussmann, Alain M. Schoepfer, Ekaterina Safroneeva, Nadine Haas, Sebastien Godat, Christine Sempoux, Hans-Uwe Simon, Alex Straumann
Article
Pathology
Ryan M. Gill, Benjamin Buelow, Cheryl Mather, Nancy M. Joseph, Venancio Alves, Elizabeth M. Brunt, Ta-Chiang Liu, Hata Makhlouf, Celia Marginean, ILKe Nalbantoglu, Christine Sempoux, Dale C. Snover, Swan N. Thung, Matthew M. Yeh, Linda D. Ferrell
Article
Gastroenterology & Hepatology
Anne Sacre, Nicolas Lanthier, Helene Dano, Selda Aydin, Daniela Leggenhager, Achim Weber, Anne-France Dekairelle, Astrid De Cuyper, Jean-Luc Gala, Yves Humblet, Christine Sempoux, Marc Van den Eynde
LIVER INTERNATIONAL
(2016)
Article
Gastroenterology & Hepatology
Paulette Bioulac-Sage, Christine Sempoux, Charles Balabaud
GASTROENTEROLOGY CLINICS OF NORTH AMERICA
(2017)
Article
Gastroenterology & Hepatology
Elisabeth M. G. de Vries, Manon de Krijger, Martti Faerkkilae, Johanna Arola, Peter Schirmacher, Daniel Gotthardt, Benjamin Goeppert, Palak J. Trivedi, Gideon M. Hirschfield, Henriette Ytting, Ben Vainer, Henk R. van Buuren, Katharina Biermann, Maren H. Harms, Olivier Chazouilleres, Dominique Wendum, Astrid D. Kemgang, Roger W. Chapman, Lai Mun Wang, Kate D. Williamson, Annette S. H. Gouw, Valerie Paradis, Christine Sempoux, Ulrich Beuers, Stefan G. Huebscher, Joanne Verheij, Cyriel Y. Ponsioen
Article
Cell Biology
Joan Saldarriaga, Bettina Bisig, Gabrielle Couchy, Claire Castain, Jessica Zucman-Rossi, Charles Balabaud, Christine Sempoux, Paulette Bioulac-Sage
Article
Pathology
Christine Sempoux, Bettina Bisig, Gabrielle Couchy, Charles Balabaud, Jessica Zucman-Rossi, Paulette Bioulac-Sage
Article
Gastroenterology & Hepatology
Daniela Lenggenhager, Jerome Gouttenoire, Mohsen Malehmir, Marion Bawohl, Hanna Honcharova-Biletska, Susanne Kreutzer, David Semela, Jorg Neuweiler, Sandra Hurlimann, Patrick Aepli, Montserrat Fraga, Roland Sahli, Luigi Terracciano, Laura Rubbia-Brandt, Beat Mullhaupt, Christine Sempoux, Darius Moradpour, Achim Weber
JOURNAL OF HEPATOLOGY
(2017)
Article
Oncology
Styliani Mantziari, Pierre Allemann, Michael Winiker, Christine Sempoux, Nicolas Demartines, Markus Schafer
JOURNAL OF SURGICAL ONCOLOGY
(2017)
Article
Biochemistry & Molecular Biology
Guliz Vanli, Christine Sempoux, Christian Widmann
MOLECULAR CARCINOGENESIS
(2017)
Article
Medical Laboratory Technology
Christine Sempoux, Valerie Paradis, Romil Saxena
SEMINARS IN DIAGNOSTIC PATHOLOGY
(2017)
Article
Medical Laboratory Technology
Paulette Bioulac-Sage, Christine Sempoux, Charles Balabaud
SEMINARS IN DIAGNOSTIC PATHOLOGY
(2017)
Article
Radiology, Nuclear Medicine & Medical Imaging
Vincent Dunet, Nermin Halkic, John O. Prior, Anass Anaye, Reto A. Meuli, Christine Sempoux, Alban Denys, Sabine Schmidt
CLINICAL NUCLEAR MEDICINE
(2017)