Article
Multidisciplinary Sciences
Wei-Yu Lin, Sarah E. Fordham, Eric Hungate, Nicola J. Sunter, Claire Elstob, Yaobo Xu, Catherine Park, Anne Quante, Konstantin Strauch, Christian Gieger, Andrew Skol, Thahira Rahman, Lara Sucheston-Campbell, Junke Wang, Theresa Hahn, Alyssa I. Clay-Gilmour, Gail L. Jones, Helen J. Marr, Graham H. Jackson, Tobias Menne, Mathew Collin, Adam Ivey, Robert K. Hills, Alan K. Burnett, Nigel H. Russell, Jude Fitzgibbon, Richard A. Larson, Michelle M. Le Beau, Wendy Stock, Olaf Heidenreich, Abrar Alharbi, David J. Allsup, Richard S. Houlston, Jean Norden, Anne M. Dickinson, Elisabeth Douglas, Clare Lendrem, Ann K. Daly, Louise Palm, Kim Piechocki, Sally Jeffries, Martin Bornhauser, Christoph Rollig, Heidi Altmann, Leo Ruhnke, Desiree Kunadt, Lisa Wagenfuhr, Heather J. Cordell, Rebecca Darlay, Mette K. Andersen, Maria C. Fontana, Giovanni Martinelli, Giovani Marconi, Miguel A. Sanz, Jose Cervera, Ines Gomez-Segui, Thomas Cluzeau, Chimene Moreilhon, Sophie Raynaud, Heinz Sill, Maria Teresa Voso, Francesco Lo-Coco, Herve Dombret, Meyling Cheok, Claude Preudhomme, Rosemary E. Gale, David Linch, Julia Gaal-Wesinger, Andras Masszi, Daniel Nowak, Wolf-Karsten Hofmann, Amanda Gilkes, Kimmo Porkka, Jelena D. Milosevic Feenstra, Robert Kralovics, David Grimwade, Manja Meggendorfer, Torsten Haferlach, Szilvia Krizsan, Csaba Bodor, Friedrich Stolzel, Kenan Onel, James M. Allan
Summary: The study conducted a genome-wide association analysis on European patients with AML, identifying genetic loci associated with the risk of developing the disease. The results shed light on potential functional genes involved in histone methylation and immune function in AML etiology.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Abhishek Niroula, Aswin Sekar, Mark A. Murakami, Mark Trinder, Mridul Agrawal, Waihay J. Wong, Alexander G. Bick, Md Mesbah Uddin, Christopher J. Gibson, Gabriel K. Griffin, Michael C. Honigberg, Seyedeh M. Zekavat, Kaavya Paruchuri, Pradeep Natarajan, Benjamin L. Ebert
Summary: Studies have shown that clonal hematopoiesis and mosaic chromosomal alterations are associated with lineage-specific hematologic malignancies, and these genetic alterations can be used in combination with blood count parameters to identify individuals at high risk.
Article
Oncology
Borhan R. Saeed, Linda Manta, Simon Raffel, Paul Theodor Pyl, Eike C. Buss, Wenwen Wang, Volker Eckstein, Anna Jauch, Andreas Trumpp, Wolfgang Huber, Anthony D. Ho, Christoph Lutz
Summary: Through whole-exome sequencing of leukemia and nonleukemia compartments from AML patients, mutations were identified in both compartments with some novel mutations found. The presence of leukemia-specific mutations in nonleukemia compartments suggests a possible source of leukemogenesis and may contribute to disease relapse.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Review
Oncology
Rhea H. Desai, Niloofar Zandvakili, Stefan K. Bohlander
Summary: Acute myeloid leukemia (AML) is a highly aggressive and heterogeneous disease that is caused by the transformation of hematopoietic stem cells. Despite advancements in our understanding of the molecular pathology of AML, the overall and relapse-free survival rates for AML patients remain poor. This is mainly due to the evolution of the disease and the selection of treatment-resistant leukemic clones. Recent research has shown that AMLs have a complex clonal architecture and consist of genetically, phenotypically, and epigenetically distinct clones that are continually evolving. Advances in sequencing technologies and studies using AML models have provided further insights into the heterogeneity of leukemias.
Review
Biochemistry & Molecular Biology
Binsah George, Hagop Kantarjian, Natalia Baran, Joseph Douglas Krocker, Adan Rios
Summary: Mutations in the tumor suppressor gene TP53 are strongly linked to poor survival outcomes in AML patients, particularly in cases with complex cytogenetics or therapy-related AML. Despite the prevalence of TP53 mutations in cancer, targeted therapeutic interventions for these mutations remain limited, highlighting the need for personalized treatment strategies. Understanding the functional differences of p53 mutants is crucial in developing effective therapies for AML patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Hematology
Jennifer S. Romer-Seibert, Sara E. Meyer
Summary: Recent advances in understanding genetic heterogeneity in AML using single-cell DNA-sequencing technology have provided insights into the complex ecosystem of competing and cooperating clones with enormous clonal complexity and diversity at different stages of the disease.
CURRENT OPINION IN HEMATOLOGY
(2021)
Article
Physiology
Thomas Stiehl, Anna Marciniak-Czochra
Summary: This study introduces a computational algorithm that can identify all clonal hierarchies compatible with bulk variant allele frequencies in patient samples, providing insights into the evolution of leukemia cells.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Oncology
Anitha Ramakrishnan, Indrani Datta, Sukanya Panja, Harmony Patel, Yingci Liu, Michael W. Craige, Cassandra Chu, Giselle Jean-Marie, Abdur-Rahman Oladoja, Isaac Kim, Antonina Mitrofanova
Summary: This study investigates the role of biological aging in the progression of prostate cancer and acute myeloid leukemia (AML). It identifies specific biological aging genes associated with disease progression in both cancers and demonstrates their potential as markers for personalized therapeutic management and novel treatment investigations.
FRONTIERS IN ONCOLOGY
(2023)
Review
Hematology
Patrick Stelmach, Andreas Trumpp
Summary: A major challenge in treating acute myeloid leukemia (AML) is the presence of therapy-resistant cells, known as leukemic stem cells (LSC), which can contribute to relapse after achieving remission. LSC display significant plasticity and can develop mechanisms to resist treatment, making them difficult to target with chemotherapy. The combination of venetoclax and azacitidine shows promise in targeting AML LSC, but it is still unclear which patients would benefit most from this treatment and how to overcome resistance mechanisms. Clinical trials are underway to investigate LSC susceptibility to first-line therapies and better understand the complex nature of AML. This review discusses the biology of LSC, resistance mechanisms, potential vulnerabilities, and ongoing clinical trial activities related to LSC-targeted therapies.
Editorial Material
Cell & Tissue Engineering
Malini Gupta, Britta Will
Summary: Adaptive aberrant gene regulation is a hallmark of malignant growth and therapy resistance in acute myeloid leukemia (AML). In this study, Eagle et al. identified oncogenic enhancer-driven overexpression of selenophosphate synthetase 2 (SEPHS2) as a targeted opportunity for mitigating malignant cell growth in AML.
Article
Oncology
Wibowo Arindrarto, Daniel M. Borras, Ruben A. L. de Groen, Redmar R. van den Berg, Irene J. Locher, Saskia A. M. E. van Diessen, Rosalie van der Holst, Edith D. van der Meijden, M. Willy Honders, Rick H. de Leeuw, Wina Verlaat, Inge Jedema, Wilma G. M. Kroes, Jeroen Knijnenburg, Tom van Wezel, Joost S. P. Vermaat, Peter J. M. Valk, Bart Janssen, Peter de Knijff, Cornelis A. M. van Bergen, Erik B. van den Akker, Peter A. C. 't Hoen, Szymon M. Kielbasa, Jeroen F. J. Laros, Marieke Griffioen, Hendrik Veelken
Summary: The study established whole transcriptome RNA sequencing as a comprehensive platform for AML diagnostics by developing HAMLET, a bioinformatics pipeline that accurately detects fusion genes, small variants, and tandem duplications. HAMLET has the potential to provide accurate diagnostic information relevant for AML classification, risk assessment, and targeted therapy on a single technology platform.
Article
Multidisciplinary Sciences
Ting Liu, Jianan Rao, Wenting Hu, Bowen Cui, Jiaoyang Cai, Yuhan Liu, Huiying Sun, Xiaoxiao Chen, Yanjing Tang, Jing Chen, Xiang Wang, Han Wang, Wubin Qian, Binchen Mao, Sheng Guo, Ronghua Wang, Yu Liu, Shuhong Shen
Summary: This study identifies potential driver alterations in Chinese pediatric AML, which differ from Western populations, and proposes a prognostic risk classification model.
NATURE COMMUNICATIONS
(2022)
Review
Biochemistry & Molecular Biology
Alessandra Sperotto, Maria Teresa Bochicchio, Giorgia Simonetti, Francesco Buccisano, Jacopo Peccatori, Simona Piemontese, Elisabetta Calistri, Giulia Ciotti, Elisabetta Pierdomenico, Roberta De Marchi, Fabio Ciceri, Michele Gottardi
Summary: Acute myeloid leukemias (AML) consist of multiple subclones that evolve by acquiring additional somatic mutations during the disease progression. The complexity and heterogeneity of AML clone architecture explain the high relapse rate among patients in hematological remission. Monitoring measurable residual disease in AML is challenging due to the difficulty in detecting genetic mutations arising during treatment. Allogeneic hematopoietic stem cell transplant has a prolonged immunological effect that can prevent relapse. Next-generation sequencing can optimize treatment outcome by monitoring measurable residual disease and clonal evolution in AML patients, especially during the transplant phase.
Article
Hematology
Brynn Levy, Linda B. Baughn, Yassmine Akkari, Scott Chartrand, Brandon LaBarge, David Claxton, P. Alan Lennon, Claudia Cujar, Ravindra Kolhe, Kate Kroeger, Beth Pitel, Nikhil Sahajpal, Malini Sathanoori, George Vlad, Lijun Zhang, Min Fang, Rashmi Kanagal-Shamanna, James R. Broach
Summary: The detection of key genetic abnormalities in acute myeloid leukemia (AML) is crucial for accurate diagnosis, prognosis, and patient management. However, current cytogenetic techniques such as karyotyping and fluorescence in situ hybridization (FISH) are limited by their reliance on skilled personnel, time, cost, and labor. Optical genome mapping (OGM) offers a single, cost-effective assay with higher resolution than karyotyping and comparable genome-wide analysis to chromosomal microarray analysis (CMA), while also being able to detect balanced structural variants (SVs).
Article
Oncology
Marco Cerrano, Matthieu Duchmann, Rathana Kim, Loic Vasseur, Pierre Hirsch, Xavier Thomas, Samuel Quentin, Justine Pasanisi, Marie Passet, Florence Rabian, Ramy Rahme, Etienne Lengline, Emmanuel Raffoux, Nathalie Dhedin, Marie Sebert, Odile Maarek, Anna Raimbault, Karine Celli-Lebras, Lionel Ades, Pierre Fenaux, Nicolas Boissel, Francois Delhommeau, Jean Soulier, Herve Dombret, Emmanuelle Clappier, Pierre Sujobert, Raphael Itzykson
Summary: In many cancers, intra-tumor heterogeneity is a predictor of poor outcomes. In acute myeloid leukemia (AML), a higher number of driver mutations and a lower Shannon Index indicating clonal dominance are independently associated with worse overall survival. Clonal dominance at diagnosis may be linked to the rapid expansion of new clones and relapse after chemotherapy.
Article
Biochemical Research Methods
Yalu Wen, Fushun Chen, Qingzheng Zhang, Yan Zhuang, Zhiguang Li
Article
Oncology
Dekang Lv, Xiang Wang, Jun Dong, Yan Zhuang, Shuyu Huang, Binbin Ma, Puxiang Chen, Xiaodong Li, Bo Zhang, Zhiguang Li, Bilian Jin
Article
Biochemistry & Molecular Biology
Fushun Chen, Qingzheng Zhang, Xiaodi Deng, Xia Zhang, Chengjun Chen, Dekang Lv, Yulong Li, Dan Li, Yu Zhang, Peiying Li, Yunpeng Diao, Lan Kang, Gareth I. Owen, Jun Chen, Zhiguang Li
Article
Oncology
Xuhao Ni, Jinhui Tao, Joseph Barbi, Qian Chen, Benjamin V. Park, Zhiguang Li, Nailing Zhang, Andriana Lebid, Anjali Ramaswamy, Ping Wei, Ying Zheng, Xuehong Zhang, Xingmei Wu, Paolo Vignali, Cui-Ping Yang, Huabin Li, Drew Pardoll, Ling Lu, Duojia Pan, Fan Pan
Article
Oncology
Jichao Tian, Yan Geng, Dekang Lv, Peiying Li, Miguel Cordova, Yuwei Liao, Xiaoyuan Tian, Xiaolong Zhang, Qingzheng Zhang, Kun Zou, Yu Zhang, Xia Zhang, Yulong Li, Tian Zhang, Zhaokui Ma, Yanyan Shao, Luyao Song, Gareth Owen, Tingting Li, Ruimei Liu, Quentin Liu, Lijuan Zou, Zhuo Zhang, Zhiguang Li
INTERNATIONAL JOURNAL OF CANCER
(2019)
Article
Medicine, General & Internal
Bin He, Rui Gao, Dekang Lv, Yalu Wen, Luyao Song, Xi Wang, Suxia Lin, Qitao Huang, Ziqian Deng, Zifeng Wang, Min Yan, Feimeng Zheng, Eric W-F. Lam, Keith W. Kelley, Zhiguang Li, Quentin Liu
Article
Biochemical Research Methods
Xiaolong Zhang, Yanyan Shao, Jichao Tian, Yuwei Liao, Peiying Li, Yu Zhang, Jun Chen, Zhiguang Li
BMC BIOINFORMATICS
(2019)
Article
Oncology
Yuwei Liao, Zhaokui Ma, Yu Zhang, Dan Li, Dekang Lv, Zhisheng Chen, Peiying Li, Aisha Al-Dherasi, Feng Zheng, Jichao Tian, Kun Zou, Yue Wang, Dongxia Wang, Miguel Cordova, Huan Zhou, Xiuhua Li, Dan Liu, Ruofei Yu, Qingzheng Zhang, Xiaolong Zhang, Jian Zhang, Xuehong Zhang, Xia Zhang, Yulong Li, Yanyan Shao, Luyao Song, Ruimei Liu, Yichen Wang, Sufiyan Sufiyan, Quentin Liu, Gareth Owen, Zhiguang Li, Jun Chen
Article
Oncology
Miguel Cordova-Delgado, Mauricio P. Pinto, Ignacio N. Retamal, Matias Munoz-Medel, Maria Loreto Bravo, Maria F. Fernandez, Betzabe Cisternas, Sebastian Mondaca, Cesar Sanchez, Hector Galindo, Bruno Nervi, Carolina Ibanez, Francisco Acevedo, Jorge Madrid, Jose Pena, Erica Koch, Maria Jose Maturana, Diego Romero, Nathaly de la Jara, Javiera Torres, Manuel Espinoza, Carlos Balmaceda, Yuwei Liao, Zhiguang Li, Matias Freire, Valentina Garate-Calderon, Javier Caceres, Gonzalo Sepulveda-Hermosilla, Rodrigo Lizana, Liliana Ramos, Rocio Artigas, Enrique Norero, Fernando Crovari, Ricardo Armisen, Alejandro H. Corvalan, Gareth Owen, Marcelo Garrido
Article
Oncology
Yu Zhang, Zhijie Kang, Dekang Lv, Xuehong Zhang, Yuwei Liao, Yulong Li, Ruimei Liu, Peiying Li, Mengying Tong, Jichao Tian, Yanyan Shao, Chao Huang, Dongcen Ge, Jingkai Zhang, Wanting Bai, Yichen Wang, Quentin Liu, Zhiguang Li, Jinsong Yan
Article
Biotechnology & Applied Microbiology
Tao Chen, Jian Yan, Zhiguang Li
MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
(2020)
Article
Cell Biology
Fei Peng, Jie Xu, Bai Cui, Qilan Liang, Sai Zeng, Bin He, Hong Zou, Manman Li, Huan Zhao, Yuting Meng, Jin Chen, Bing Liu, Shasha Lv, Peng Chu, Fan An, Zifeng Wang, Junxiu Huang, Yajing Zhan, Yuwei Liao, Jinxin Lu, Lingzhi Xu, Jin Zhang, Zhaolin Sun, Zhiguang Li, Fangjun Wang, Eric W-F Lam, Quentin Liu
Summary: RNase III DROSHA is upregulated in various cancers and interacts with beta-Catenin to activate STC1 in a RNA cleavage-independent manner. The enhanced stability of DROSHA mRNA through m(6)A modification in BCSCs, activated by AURKA, plays a key role in promoting the BCSC phenotype. Inhibition of DROSHA m(6)A modification attenuates BCSC traits, highlighting the importance of AURKA-induced m(6)A modification in breast cancer progression.
Article
Cell Biology
Xiangdong Liu, Bo Liu, Ruihua Li, Fei Wang, Ning Wang, Maihe Zhang, Yang Bai, Jin Wu, Liping Liu, Dongyu Han, Zhiguang Li, Bin Feng, Guangbiao Zhou, Shujing Wang, Li Zeng, Jian Miao, Yiqun Yao, Bin Liang, Lin Huang, Qi Wang, Yingjie Wu
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2020)
Article
Genetics & Heredity
Xiaolong Zhang, Xuehong Zhang, Xia Zhang, Yuwei Liao, Luyao Song, Qingzheng Zhang, Peiying Li, Jichao Tian, Yanyan Shao, Aisha Mohammed AI-Dherasi, Yulong Li, Ruimei Liu, Tao Chen, Xiaodi Deng, Yu Zhang, Dekang Lv, Jie Zhao, Jun Chen, Zhiguang Li