Article
Biochemistry & Molecular Biology
Pia Michler, Anne Schedel, Martha Witschas, Ulrike Anne Friedrich, Rabea Wagener, Juha Mehtonen, Triantafyllia Brozou, Maria Menzel, Carolin Walter, Dalileh Nabi, Glen Pearce, Miriam Erlacher, Gudrun Goehring, Martin Dugas, Merja Heinaeniemi, Arndt Borkhardt, Friedrich Stoelzel, Julia Hauer, Franziska Auer
Summary: This study identified a novel germline stop-gain variant in the shelterin complex gene POT1 in a child with acute myeloid leukemia, which resulted in increased DNA damage and chromosomal instabilities. The variant also led to telomeric elongation and highlighted the predisposition to myeloid malignancies in childhood caused by POT1 germline deficiency.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Sung-Gi Chi, Yosuke Minami
Summary: This article summarizes the recent updates on molecular targeting agents and emerging gene-specific strategies. FLT3 and IDH inhibitors are being tested together with conventional chemotherapy in patients who are fit for treatment and those who are not eligible for intensive therapy. Other potential therapeutic strategies include targeting the menin-MLL complex pathway, downstream signaling molecule SYK, and developing next-generation p53 stabilizers. The TP53 mutation remains a challenge, but promising results have been observed with the anti-CD47 antibody magrolimab in combination with azacitidine in patients carrying the TP53 mutation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Yi-Ying Wu, Hsing-Fan Lai, Tzu-Chuan Huang, Yu-Guang Chen, Ren-Hua Ye, Ping-Ying Chang, Shiue-Wei Lai, Yeu-Chin Chen, Cho-Hao Lee, Wei-Nung Liu, Ming-Shen Dai, Jia-Hong Chen, Ching-Liang Ho, Yi-Lin Chiu
Summary: The study identified miR-342-5p as downregulated in CML patients, which played a significant role in regulating cell proliferation and DNA double-strand breaks through targeting the CCND1 gene expression region, enhancing imatinib-induced apoptosis. The clinical database analysis further confirmed the association between miR-342-5p and predicted molecular responses in CML patients, suggesting its potential as a target for future treatment or prognostic evaluation.
CELL DEATH & DISEASE
(2021)
Article
Medical Laboratory Technology
Sang Mee Hwang, Haejin Ahn, Seungah Jeon, Jun Park, Yunye Chang, Hyungsuk Kim
Summary: Monocyte subset analysis is a useful tool for screening and monitoring CMML, with a cutoff of MO1 >= 94% showing high sensitivity and specificity. Harmonization of protocols for monocyte subset analysis is necessary.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Biology
Quang Thinh Trac, Tingyou Zhou, Yudi Pawitan, Trung Nghia Vu
Summary: An individualized cancer therapy should target the cancer's driving biological pathways, but this is challenging to determine. In this study, a systematic method was developed and validated to search for druggable cancer-specific pathways (DCSPs) by integrating driver mutations, gene expression profiles, and drug targets. The method successfully identified and validated numerous DCSPs from a wide range of cancer datasets and found a correlation between pathway activation scores and drug response.
Article
Medicine, General & Internal
Eric J. Duncavage, Molly C. Schroeder, Michele O'Laughlin, Roxanne Wilson, Sandra MacMillan, Andrew Bohannon, Scott Kruchowski, John Garza, Feiyu Du, Andrew E. O. Hughes, Josh Robinson, Emma Hughes, Sharon E. Heath, Jack D. Baty, Julie Neidich, Matthew J. Christopher, Meagan A. Jacoby, Geoffrey L. Uy, Robert S. Fulton, Christopher A. Miller, Jacqueline E. Payton, Daniel C. Link, Matthew J. Walter, Peter Westervelt, John F. DiPersio, Timothy J. Ley, David H. Spencer
Summary: This study showed that whole-genome sequencing provided rapid and accurate genomic profiling in patients with AML or MDS, with a greater diagnostic yield than conventional cytogenetic analysis, and more efficient risk stratification based on standard risk categories.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Oncology
Gabriela D. A. Guardia, Rafaella G. Naressi, Vanessa C. Buzzato, Juliana B. da Costa, Ilana Zalcberg, Jordana Ramires, Bettina Malnic, Luciana M. Gutiyama, Pedro A. F. Galante
Summary: Acute myeloid leukemia (AML) is the most common type of acute leukemia in adults. A group of genes called olfactory receptors (ORs) were found to be highly expressed in AML cells. The expression of these ORs could predict the prognosis of AML patients and they have the potential to be used as biomarkers for diagnosis and as targets for new drugs to treat AML.
Article
Oncology
Muhammed Burak Demircan, Tina M. Schnoeder, Peter C. Mgbecheta, Katrin Schroeder, Frank-D Boehmer, Florian H. Heidel
Summary: Oxidative stress has been found to be associated with cancer initiation and progression. Recent studies have shown the potential therapeutic role of ROS modulation in various cancers, including acute myeloid leukemia (AML). A detailed understanding of the complex machinery regulating ROS in cancer is essential for defining potential therapeutic applications.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2022)
Article
Immunology
Gongqiang Wu, Shanshan Guo, Qian Luo, Xiaoxia Wang, Wenhai Deng, Guifang Ouyang, Jeffrey J. Pu, Wen Lei, Wenbin Qian
Summary: This study identified anti-CD70 CAR-T cells as a potential new treatment for AML. However, this CAR-T cell therapy did not completely eliminate leukemia in vivo, suggesting the need for further research and development of innovative combinatorial CAR constructs and increased CD70 expression on leukemia cell surface to optimize CAR-T cell responses for AML.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Chemistry, Analytical
Ghulam Abbas, Mengmeng Cui, Dianbing Wang, Min Li, Xian-En Zhang
Summary: This study developed subcellular compartment-specific sensors to monitor GSH/GSSG levels in AML cells and revealed substantial heterogeneity of GSH/GSSG level dynamics in different subcellular compartments. The study also showed that certain drugs downregulated GSH/GSSG levels in different subcellular compartments, suggesting potential therapeutic targets in AML cells.
ANALYTICAL CHEMISTRY
(2023)
Article
Hematology
Mohammad Faizan Zahid, Kelsey Moriarty, Courtney Dryden, Olga Weinberg, Misha Asif, Ruth Ikpefan, Julia M. Anderson, Robert H. Collins, Stephen S. S. Chung, Weina Chen, Prapti A. Patel, Yazan F. Madanat
Summary: Incorporating an electronic questionnaire is an effective screening method for hereditary myeloid malignancy syndromes (HMMS). Many patients declined testing due to cost. These results highlight the importance of germline testing in patients with myeloid malignancies, further research in HMMS, and coverage by healthcare plans.
EUROPEAN JOURNAL OF HAEMATOLOGY
(2023)
Article
Health Care Sciences & Services
Alessandro Palma, Marta Iannuccelli, Ilaria Rozzo, Luana Licata, Livia Perfetto, Giorgia Massacci, Luisa Castagnoli, Gianni Cesareni, Francesca Sacco
Summary: By embedding patient-specific genomic data into actionable logic models, relevant patient-specific clinical features can be inferred. Therefore, integrating literature-derived causal networks with patient-specific data may help with bedside decisions.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Biology
Juehua Gao, Yihua Chen, Madina Sukhanova
Summary: Myeloid neoplasms with germline predisposition have been recognized as distinct entities, providing important insights into the biology and molecular mechanisms of these diseases. Understanding the regulation of genes and the impact of mutations can lead to improved disease classification and treatment.
Article
Oncology
Wen Shuai, Zhuang Zuo, Nianyi Li, Sofia Garces, Fatima Zahra Jelloul, Chi Young Ok, Shaoying Li, Jie Xu, M. James You, Wei Wang, Catherine Rehder, Elias J. Jabbour, Keyur P. Patel, L. Jeffrey Medeiros, C. Cameron Yin
Summary: ETNK1 mutation is commonly found in various myeloid neoplasms, often as an early event and a dominant clone, accompanied by other mutations. It may play a critical role in the pathogenesis and progression of myeloid neoplasms by causing DNA damage and inducing other mutations and genomic instability, and it could be a potential therapeutic target.
Article
Oncology
Alexandre Perani, Sylvie Bourthoumieu, David Rizzo, Jasmine Chauzeix, Benjamin Dauriat, Pascal Turlure, Stephane Girault, Lea Veyrune, Maxime Roubinet, Jean Feuillard, Catherine Yardin, Nathalie Gachard
Summary: High-throughput sequencing is commonly used for diagnosis and prognosis, but it may identify potential germline variants that need to be confirmed on non-infiltrated tissues. Saliva is applicable for relatives, but only for 24% of patients. Collecting saliva during remission and using hair follicles as an alternative to skin biopsy are recommended.
FRONTIERS IN ONCOLOGY
(2023)