Article
Medicine, General & Internal
Donia Ounissi, Marwa Weslati, Rahma Boughriba, Meriam Hazgui, Saadia Bouraoui
Summary: This study found that Tunisian CRC patients have a similar frequency of KRAS and NRAS mutations compared to other populations, highlighting the importance of screening for these mutations to guide therapy and select appropriate candidates, ultimately helping to avoid unnecessary toxicity and increased costs.
TURKISH JOURNAL OF MEDICAL SCIENCES
(2021)
Article
Hematology
Jan M. Middeke, Klaus H. Metzeler, Christoph Roellig, Michael Kraemer, Jan-Niklas Eckardt, Sebastian Stasik, Philipp A. Greif, Karsten Spiekermann, Maja Rothenberg-Thurley, Utz Krug, Jan Braess, Alwin Kraemer, Andreas Hochhaus, Tim H. Bruemmendorf, Ralph Naumann, Bjoern Steffen, Hermann Einsele, Markus Schaich, Andreas Burchert, Andreas Neubauer, Dennis Goerlich, Cristina Sauerland, Kerstin Schaefer-Eckart, Christoph Schliemann, Stefan W. Krause, Mathias Haenel, Norbert Frickhofen, Richard Noppeney, Ulrich Kaiser, Martin Kaufmann, Desiree Kunadt, Bernhard Woermann, Katja Sockel, Malte von Bonin, Tobias Herold, Carsten Mueller-Tidow, Uwe Platzbecker, Wolfgang E. Berdel, Hubert Serve, Claudia D. Baldus, Gerhard Ehninger, Johannes Schetelig, Wolfgang Hiddemann, Martin Bornhaeuser, Friedrich Stoelzel, Christian Thiede
Summary: Mutations in the isocitrate dehydrogenase-1 (IDH1) and IDH2 genes are common in acute myeloid leukemia (AML), affecting about 20% of patients. While these mutations do not impact treatment response rates or overall survival, different subtypes of IDH1/2 mutations may have an association with outcomes.
Article
Gastroenterology & Hepatology
Manuela Pinheiro, Ana Peixoto, Patricia Rocha, Isabel Veiga, Carla Pinto, Catarina Santos, Pedro Pinto, Joana Guerra, Carla Escudeiro, Ana Barbosa, Joao Silva, Manuel R. Teixeira
Summary: Analysis of ctDNA is a viable strategy for clinical management of mCRC patients. Both OncoBEAM and Idylla assays showed good concordance with tumor tissue analysis, with OncoBEAM having slightly higher sensitivity. The Idylla platform is a cost-effective and less labor-intensive option for detecting RAS mutations in plasma.
INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
(2022)
Article
Medicine, General & Internal
Vincenzo Formica, Jessica Lucchetti, Elena Doldo, Silvia Riondino, Cristina Morelli, Renato Argiro, Nicola Renzi, Daniele Nitti, Antonella Nardecchia, Emanuela Dell'Aquila, Patrizia Ferroni, Fiorella Guadagni, Giampiero Palmieri, Augusto Orlandi, Mario Roselli
Summary: This study demonstrates that mutational analysis through plasma can better predict survival outcomes for colorectal cancer patients, compared to relying solely on tumor tissue analysis. Plasma mutations further refine prognosis and can help guide clinical management.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Oncology
Peng He, Yuan Zou, Jia Qiu, Tianhong Yang, Lei Peng, Xiangsong Zhang
Summary: The study revealed that in colorectal cancer patients, the mutation groups of KRAS/NRAS/BRAF had significantly higher SUVmax and T/NT values compared to the wild-type group. The ROC curve results showed that the cutoff values for T/NT and SUVmax were 5.14 and 12.40, with corresponding predictive accuracies of 0.682 and 0.647, respectively.
JOURNAL OF ONCOLOGY
(2021)
Review
Medicine, General & Internal
Yousef S. Abuzneid, Hussam I. A. Alzeerelhouseini, Nizar Marzouqa, Yasmine Yaghi, Alaa R. Al-Ihribat, Bilal Alqam, Akram Krama
Summary: Atypical chronic myeloid leukemia (BCR-ABL1 negative) is a rare myeloid neoplasm with poor prognosis and no current standard of treatment. It features both myelodysplastic and myeloproliferative characteristics with little data regarding mutations playing a role in the disease.
ANNALS OF MEDICINE AND SURGERY
(2021)
Article
Pathology
Qian Yu, Huiqin Jiang, Xi Su, Zhengxin Jiang, Xue Liang, Chunyan Zhang, Wu Shang, Yiliang Zhang, Hao Chen, Zhijie Yang, Minna Shen, Fei Huang, Xinning Chen, Yihui Yang, Baishen Pan, Beili Wang, Daru Lu, Wei Guo
Summary: With the approval of new targeted therapies, the detection of mutations in KRAS, NRAS, BRAF, and PIK3CA has become crucial in managing metastatic colorectal cancer (CRC). We developed novel multiplex drop-off digital PCR (MDO-dPCR) assays that allow for the detection of the most frequent hotspot mutations in these genes with high sensitivity. The assays showed a limit of detection ranging from 0.084% to 0.182% and demonstrated a strong correlation with next-generation sequencing results. The high sensitivity and comprehensive mutation coverage make the MDO-dPCR assays suitable for rapid and cost-effective detection of mutations in CRC patients' plasma, contributing to early response assessment and disease monitoring.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2023)
Article
Pathology
Qian Yu, Huiqin Jiang, Xi Su, Zhengxin Jiang, Xue Liang, Chunyan Zhang, Wu Shang, Yiliang Zhang, Hao Chen, Zhijie Yang, Minna Shen, Fei Huang, Xinning Chen, Yihui Yang, Baishen Pan, Beili Wang, Daru Lu, Wei Guo
Summary: The detection of mutations in KRAS, NRAS, BRAF, and PIK3CA is crucial for the treatment of metastatic colorectal cancer (CRC) with new targeted therapies. Researchers developed a novel multiplex drop-off digital PCR (MDO-dPCR) assay that allows for the detection of the most frequent hotspot mutations in these genes with high sensitivity. The MDO-dPCR assays showed high accuracy and correlation with next-generation sequencing results, making them suitable for rapid and cost-effective mutation detection in CRC patients' plasma.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2023)
Article
Gastroenterology & Hepatology
Youssef Mahdi, Mouna Khmou, Amine Souadka, Hajar El Agouri, Soumaya Ech-charif, Chaimaa Mounjid, Basma El Khannoussi
Summary: This study reports the largest analysis of NRAS and KRAS status in colorectal metastatic patients in North Africa. The study found that KRAS mutations occurred in approximately 51.7% of tumors, mainly in exon 12, while NRAS mutations were found in only 3% of tumors. The study also found a significant correlation between NRAS mutations and age.
BMC GASTROENTEROLOGY
(2023)
Article
Surgery
Onenerk A. Mine, Ozdemir H. Gulnihal, Ozkara Selvinaz, Aker Vardar Fugen, Ustaalioglu Oven Basak
Summary: This study aimed to determine the frequency of KRAS/NRAS mutations in CRC and investigate their clinicopathologic characteristics. It found that KRAS mutations were associated with multiple organ metastasis, while NRAS mutant tumors were more common in the left colon and rectum. Well differentiated CRCs were more frequent in NRAS mutant and RAS-wild type CRCs compared to RAS mutant tumors.
JOURNAL OF MEDICAL AND SURGICAL RESEARCH
(2021)
Article
Genetics & Heredity
Agnes Stephanie Harahap, Imam Subekti, Sonar Soni Panigoro, Asmarinah, Lisnawati, Retno Asti Werdhani, Hasrayati Agustina, Dina Khoirunnisa, Mutiah Mutmainnah, Salinah, Alvita Dewi Siswoyo, Maria Francisca Ham
Summary: The study investigated the prevalence of BRAFV600E and RAS mutations in PTC and their association with clinicopathologic characteristics. It was found that BRAFV600E mutation was significantly associated with high clinical stage, tall-cell variants, non-encapsulated morphology, lymphovascular invasion, extrathyroidal extension, and lymph node metastasis. RAS mutations were associated with follicular variant, encapsulated tumor, and absence of extrathyroidal extension. HRAS-mutated PTC frequently exhibited tumor multifocality.
APPLICATION OF CLINICAL GENETICS
(2023)
Article
Oncology
Ambroise Marcais, Laetitia Waast, Julie Bruneau, Katia Hanssens, Vahid Asnafi, Philippe Gaulard, Felipe Suarez, Patrice Dubreuil, Antoine Gessain, Olivier Hermine, Claudine Pique
Article
Medicine, Research & Experimental
Michael Olvedy, Julie C. Tisserand, Flavie Luciani, Bram Boeckx, Jasper Wouters, Sophie Lopez, Florian Rambow, Sara Aibar, Bernard Thienpont, Jasmine Barra, Corinna Kohler, Enrico Radaelli, Sophie Tartare-Deckert, Stein Aerts, Patrice Dubreuil, Joost J. van den Oord, Diether Lambrechts, Paulo De Sepulveda, Jean-Christophe Marine
JOURNAL OF CLINICAL INVESTIGATION
(2017)
Article
Medicine, General & Internal
Olivier Lortholary, Marie Olivia Chandesris, Cristina Bulai Livideanu, Carle Paul, Gerard Guillet, Ewa Jassem, Marek Niedoszytko, Stephane Barete, Srdan Verstovsek, Clive Grattan, Gandhi Damaj, Danielle Canioni, Sylvie Fraitag, Ludovic Lhermitte, Sophie Georgin-Lavialle, Laurent Frenzel, Lawrence B. Afrin, Katia Hanssens, Julie Agopian, Raphael Gaillard, Jean-Pierre Kinet, Christian Auclair, Colin Mansfield, Alain Moussy, Patrice Dubreuil, Olivier Hermine
Article
Multidisciplinary Sciences
Kahina Hammam, Magali Saez-Ayala, Etienne Rebuffet, Laurent Gros, Sophie Lopez, Berengere Hajem, Martine Humbert, Emilie Baudelet, Stephane Audebert, Stephane Betzi, Adrien Lugari, Sebastien Combes, Sebastien Letard, Nathalie Casteran, Colin Mansfield, Alain Moussy, Paulo De Sepulveda, Xavier Morelli, Patrice Dubreuil
NATURE COMMUNICATIONS
(2017)
Article
Dermatology
C. Meni, S. Georgin-Lavialle, L. Le Sache de Peufeilhoux, J. P. Jais, S. Hadj-Rabia, J. Bruneau, S. Fraitag, K. Hanssens, P. Dubreuil, O. Hermine, C. Bodemer
BRITISH JOURNAL OF DERMATOLOGY
(2018)
Article
Immunology
Vaclav Janovec, Besma Aouar, Albert Font-Haro, Tomas Hofman, Katerina Trejbalova, Jan Weber, Laurence Chaperot, Joel Plumas, Daniel Olive, Patrice Dubreuil, Jacques A. Nunes, Ruzena Stranska, Ivan Hirsch
FRONTIERS IN IMMUNOLOGY
(2018)
Letter
Allergy
Eline A. Casassa, Claire Mailhol, Emilie Tournier, Camille Laurent, Yannick Degboe, Marine Eischen, Natalia Kirsten, Jacques Moreau, Solene M. Evrard, Veronique Mansat-De Mas, Laurence Lamant, Patrice Dubreuil, Pol Andre Apoil, Olivier Hermine, Carle Paul, Cristinai Bulai Livideanu
ALLERGOLOGY INTERNATIONAL
(2019)
Review
Pharmacology & Pharmacy
Asuncion Martinez-Anton, Delphine Gras, Arnaud Bourdin, Patrice Dubreuil, Pascal Chanez
PHARMACOLOGY & THERAPEUTICS
(2019)
Article
Endocrinology & Metabolism
Y. Degboe, M. Eischen, P. A. Apoil, C. Mailhol, P. Dubreuil, O. Hermine, C. Paul, C. Bulai Livideanu, M. Laroche
OSTEOPOROSIS INTERNATIONAL
(2019)
Article
Allergy
Richard Lemal, Guillemette Fouquet, Louis Terriou, Melanie Vaes, Cristina Bulai Livideanu, Laurent Frenzel, Stephane Barete, Danielle Canioni, Ludovic Lhermitte, Julien Rossignol, Michel Arock, Patrice Dubreuil, Olivier Lortholary, Olivier Hermine
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2019)
Article
Hematology
Ellen Weisberg, Chengcheng Meng, Abigail E. Case, Martin Sattler, Hong L. Tiv, Prafulla C. Gokhale, Sara J. Buhrlage, Xiaoxi Liu, Jing Yang, Jinhua Wang, Nathanael Gray, Richard M. Stone, Sophia Adamia, Patrice Dubreuil, Sebastien Letard, James D. Griffin
BRITISH JOURNAL OF HAEMATOLOGY
(2019)
Article
Clinical Neurology
Jesus S. Mora, Angela Genge, Adriano Chio, Conrado J. Estol, Delia Chaverri, Maria Hernandez, Saul Marin, Javier Mascias, Gabriel E. Rodriguez, Monica Povedano, Andres Paipa, Raul Dominguez, Josep Gamez, Maria Salvado, Christian Lunetta, Carlos Ballario, Nilo Riva, Jessica Mandrioli, Alain Moussy, Jean-Pierre Kinet, Christian Auclair, Patrice Dubreuil, Vincent Arnold, Colin D. Mansfield, Olivier Hermine
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2020)
Article
Medicine, Research & Experimental
Emiliano Trias, Sofia Ibarburu, Romina Barreto-Nunez, Valentina Varela, Ivan C. Moura, Patrice Dubreuil, Olivier Hermine, Joseph S. Beckman, Luis Barbeito
Meeting Abstract
Hematology
O. Hermine, C. Paul, E. Jassem, M. Niedoszytko, S. Barete, S. Verstovsek, C. Grattan, D. Canioni, S. Georgin-Lavialle, J. -P. Kinet, C. Mansfield, A. Moussy, P. Dubreuil, O. Lortholary
Meeting Abstract
Critical Care Medicine
A. Martinez-Anton, D. Gras, C. Garulli, P. Dubreuil, P. Chanez
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2017)