Review
Oncology
Christian M. Vonk, Adil S. A. Al Hinai, Diana Hanekamp, Peter J. M. Valk
Summary: Although most AML patients achieve CR after initial induction chemotherapy, residual leukemic cells may lead to relapse, with MRD serving as a prognostic marker. Molecular techniques like NGS offer a sensitive assessment of MRD markers, but face challenges such as limited sensitivity/specificity and difficulty in distinguishing mutations. Multiple studies have explored the association between MRD detection by molecular assays and AML relapse, highlighting limitations, challenges, and opportunities.
Article
Oncology
Huirong Mai, Qin Li, Guobing Wang, Ying Wang, Shilin Liu, Xue Tang, Fen Chen, Guichi Zhou, Yi Liu, Tonghui Li, Lulu Wang, Chunyan Wang, Feiqiu Wen, Sixi Liu
Summary: This study explored the feasibility of using Next-generation sequencing (NGS) technology to detect minimal residual disease (MRD) in childhood acute lymphoblastic leukemia (ALL). The results showed that NGS is more sensitive than multiparametric flow cytometry (MFC) and real-time quantitative PCR (RQ-PCR) in detecting MRD. Furthermore, the number of clonal rearrangement sequences detected by NGS before treatment is an independent factor in predicting whether MRD can become negative after chemotherapy.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Article
Oncology
Jong-Mi Lee, Silvia Park, Insik Hwang, Dain Kang, Byung Sik Cho, Hee-Je Kim, Ari Ahn, Myungshin Kim, Yonggoo Kim
Summary: This article presents an ITD-tracing algorithm based on NGS method for monitoring MRD in AML patients. The assay shows high sensitivity and superior performance, and demonstrates prognostic value in AML patients undergoing allogeneic hematopoietic stem cell transplantation.
Article
Multidisciplinary Sciences
Brooks A. Benard, Logan B. Leak, Armon Azizi, Daniel Thomas, Andrew J. Gentles, Ravindra Majeti
Summary: This study aggregates multiple AML cohorts to explore the correlation between clonal abundance of somatic mutations and clinical outcomes. High variant allele frequency for certain mutations is associated with poor prognosis, while increased GATA2 variant allele frequency correlates with better outcomes. Clinical features such as white blood cell count and blast percentage are related to the subclonal abundance of mutations like TP53 and IDH1.
NATURE COMMUNICATIONS
(2021)
Article
Oncology
Patrizia Chiusolo, Elisabetta Metafuni, Gessica Minnella, Sabrina Giammarco, Silvia Bellesi, Monica Rossi, Federica Sora, Maria Assunta Limongiello, Filippo Frioni, Nicola Piccirillo, Maria Bianchi, Caterina Giovanna Valentini, Luciana Teofili, Simona Sica, Andrea Bacigalupo
Summary: The aim of this study was to evaluate the role of WT1 expression after allogeneic stem cell transplantation (alloHSCT) in patients with acute myeloid leukemia (AML). The results showed that WT1 expression at day 60 is a significant predictor of relapse, particularly when tested on CD34+ selected bone marrow cells.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Jun Kong, Meng-Ge Gao, Ya-Zhen Qin, Yu Wang, Chen-Hua Yan, Yu-Qian Sun, Ying-Jun Chang, Lan-Ping Xu, Xiao-Hui Zhang, Kai-Yan Liu, Xiao-Jun Huang, Xiao-Su Zhao
Summary: This study aimed to analyze the dynamic changes of MLL-PTD peri-transplantation and determine the best threshold for predicting relapse after transplantation. The study included 48 patients with MLL-PTD AML or MDS-EB who underwent allo-HSCT. The results showed that MLL-PTD after transplantation can serve as an effective indicator for predicting relapse. The expression level of MLL-PTD >= 1.0% was identified as the optimal cut-off value for predicting hematological relapse after allo-HSCT.
Article
Hematology
Yun-Wei Zhang, Long Su, Ye-Hui Tan, Hai Lin, Xiao-Liang Liu, Qiu-Ju Liu, Jing-Nan Sun, Ming Zhang, Ya-Zhe Du, Fei Song, Wei Han, Su-Jun Gao
Summary: AML with NPM1 mutation is a distinct genetic entity with favorable outcomes. However, this study reveals that it is still a highly heterogeneous disorder. High NPM1 variant allele frequency (VAF) and certain co-mutated genes are associated with poorer outcomes. Additionally, measurable residual disease (MRD) after chemotherapy is an independent predictor. These findings are important for re-stratifying the prognoses of AML patients with NPM1 mutations.
ANNALS OF HEMATOLOGY
(2023)
Review
Oncology
Lamia Madaci, Laure Farnault, Norman Abbou, Jean Gabert, Geoffroy Venton, Regis Costello
Summary: Cytological approaches have been used for the diagnosis, prognosis, and management of acute myeloid leukemia (AML) and myelodysplastic neoplasms. Technological advances in molecular biology, particularly next-generation sequencing (NGS), have made it possible to quickly identify gene mutations in AML and MDS. The combination of cytological approaches and NGS enables better clinical management and improved prognosis for patients with acute leukemia and myelodysplastic neoplasms.
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
Oncology
Selina M. Luger
Summary: The Oncology Grand Rounds series aims to provide readers with a better understanding of applying key study results to their clinical practice through case presentations and literature reviews.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Review
Oncology
Kritika Srinivasan Rajsri, Nainita Roy, Sohini Chakraborty
Summary: Acute myeloid leukemia (AML) is a blood cancer characterized by immature blood cells called leukemic blasts. Leukemia stem cells (LSCs) are resistant to chemotherapy and can cause disease relapse. Understanding the molecular basis of LSCs is important in identifying and targeting these cells for more effective treatment.
Article
Oncology
Jae Wook Lee, Yonggoo Kim, Ari Ahn, Jong Mi Lee, Jae Won Yoo, Seongkoo Kim, Bin Cho, Nack-Gyun Chung, Myungshin Kim
Summary: The study demonstrates the clinical implication of NGS-based Ig clonality assay for MRD assessment in pediatric B-ALL patients, with normalized post-induction MRD <0.01% being a significant prognostic indicator.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Hee-Je Kim, Yonggoo Kim, Dain Kang, Hoon Seok Kim, Jong-Mi Lee, Myungshin Kim, Byung-Sik Cho
Summary: Limited studies on NGS-MRD in AML patients after allo-HSCT prompted this research, which found a significant association between persistent mutations detected pre-HSCT and 1 month post-HSCT with post-transplant relapse and overall survival. Detectable mutations in genes associated with clonal hematopoiesis were also predictive of post-transplant relapse. Serial NGS-MRD monitoring was shown to compensate for the limitations of the initial assay performance.
BLOOD CANCER JOURNAL
(2021)
Article
Oncology
Ashwini S. Kamath-Loeb, Jiang-Cheng Shen, Michael W. Schmitt, Brendan F. Kohrn, Keith R. Loeb, Elihu H. Estey, Jin Dai, Sylvia Chien, Lawrence A. Loeb, Pamela S. Becker
Summary: AML not only has few clonal single nucleotide mutations, but also has a wide range of variants with low allele frequencies, which are functionally important and can contribute to drug resistance and relapse. Early and accurate detection of these subclonal variants offers the opportunity for early intervention and improved disease outcome.
Article
Hematology
Paul F. McGowan, Stephen D. Hyter, Wei Cui, Regina M. Plummer, Andrew K. Godwin, Da Zhang
Summary: Our study compared flow cytometry and next-generation sequencing in monitoring minimal/measurable residual disease in 107 patients. The majority of MFC-/NGS(+) cases occurred within 6 months post-treatment, with 13 of 44 MFC-/NGS(+) instances showing similar NGS profiles to their day 0 diagnosis. This suggests that flow cytometry has comparable sensitivity to NGS, and the latter could enhance surveillance for improved outcomes when used in conjunction.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2022)
Article
Oncology
Juan Ma, Jennifer Dunlap, Aleksandra Paliga, Elie Traer, Richard Press, Lisong Shen, Guang Fan
LEUKEMIA & LYMPHOMA
(2018)
Article
Pathology
Justin T. Brown, Ion J. Beldorth, Walairat Laosinchai-Wolf, Marie E. Fahey, Ken L. Jefferson, Adam K. Ruskin, Jacquelyn J. Roth, Li Cai, Christopher D. Watt, Richard D. Press, Fei Yang, John B. Hedges, Bernard F. Andruss
JOURNAL OF MOLECULAR DIAGNOSTICS
(2019)
Article
Hematology
Jennifer B. Dunlap, Jessica Leonard, Mara Rosenberg, Rachel Cook, Richard Press, Guang Fan, Philipp W. Raess, Brian J. Druker, Elie Traer
AMERICAN JOURNAL OF HEMATOLOGY
(2019)
Article
Pathology
Brian Werstein, Jennifer Dunlap, Michael J. Cascio, Robert S. Ohgami, Guang Fan, Richard Press, Philipp W. Raess
JOURNAL OF MOLECULAR DIAGNOSTICS
(2020)
Letter
Oncology
Ryan C. Stoner, Richard D. Press, Julia E. Maxson, Jeffrey W. Tyner, Kim-Hien T. Dao
Article
Genetics & Heredity
Fei Yang, Tauangtham Anekpuritanang, Richard D. Press
MOLECULAR DIAGNOSIS & THERAPY
(2020)
Article
Computer Science, Interdisciplinary Applications
Garrett Eickelberg, L. Nelson Sanchez-Pinto, Yuan Luo
JOURNAL OF BIOMEDICAL INFORMATICS
(2020)
Article
Hematology
William Shomali, Alisa Damnernsawad, Talent Theparee, David Sampson, Quinlan Morrow, Fei Yang, Sebastian Fernandez-Pol, Richard Press, James Zehnder, Jeffrey W. Tyner, Jason Gotlib
Summary: Hypereosinophilia is classified into primary, secondary/reactive, and undetermined cause categories. Using myeloid next-generation sequencing panels can reveal new mutations in patients with undetermined causes. The novel somatic JAK1 mutation described in this study results in growth factor independence of cells and activates the JAK-STAT pathway.
Letter
Hematology
Mark Kavesh, Maedeh Mohebnasab, Marcela Riveros Angel, Wei Xie, Philipp W. Raess, Wei Cui, Richard D. Press, Guang Yang, Peng Li
Article
Multidisciplinary Sciences
Jennifer A. Pacheco, Luke V. Rasmussen, Ken Wiley Jr, Thomas Nate Person, David J. Cronkite, Sunghwan Sohn, Shawn Murphy, Justin H. Gundelach, Vivian Gainer, Victor M. Castro, Cong Liu, Frank Mentch, Todd Lingren, Agnes S. Sundaresan, Garrett Eickelberg, Valerie Willis, Al'ona Furmanchuk, Roshan Patel, David S. Carrell, Yu Deng, Nephi Walton, Benjamin A. Satterfield, Iftikhar J. Kullo, Ozan Dikilitas, Joshua C. Smith, Josh F. Peterson, Ning Shang, Krzysztof Kiryluk, Yizhao Ni, Yikuan Li, Girish N. Nadkarni, Elisabeth A. Rosenthal, Theresa L. Walunas, Marc S. Williams, Elizabeth W. Karlson, Jodell E. Linder, Yuan Luo, Chunhua Weng, WeiQi Wei
Summary: The eMERGE Network assessed the feasibility of using portable phenotype rule-based algorithms with NLP components to improve existing algorithms' performance using EHRs. Adding NLP resulted in improved precision and/or recall for most algorithms. Portability, workflow, and technology were major themes. NLP performance varied due to clinical document heterogeneity.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Yonghong Li, Jose Solis-Ruiz, Fei Yang, Nicola Long, Carmen H. Tong, Felicitas L. Lacbawan, Frederick K. Racke, Richard D. Press
Summary: Residual post-treatment somatic mutations detected by NGS are significantly prognostic for subsequent clinical outcomes in AML patients.
BLOOD CANCER JOURNAL
(2023)
Article
Hematology
Uma Borate, Fei Yang, Richard Press, Amy S. Ruppert, Dan Jones, Sean Caruthers, Weiqiang Zhao, Jo-Anne Vergilio, Dean C. Pavlick, Luke Juckett, Brianna Norris, Taylor Bucy, Amy Burd, Eytan M. Stein, Prapti Patel, Maria R. Baer, Wendy Stock, Gary Schiller, William Blum, Tibor Kovacsovics, Mark Litzow, James Foran, Nyla A. Heerema, Leonard Rosenberg, Sonja Marcus, Ashley Yocum, Mona Stefanos, Brian Druker, John C. Byrd, Ross L. Levine, Alice Mims
Summary: This study aimed to compare the concordance of pathogenic mutations in acute myeloid leukemia (AML) patients' samples using different NGS platforms at different diagnostic laboratories. The results showed high concordance among the various NGS methods used to analyze AML samples, which is reassuring considering the widespread use of NGS in AML therapeutic decision-making.
Article
Medicine, Research & Experimental
Mara W. Rosenberg, Samantha L. Savage, Christopher A. Eide, Anna Reister Schultz, Rachel J. Cook, Richard D. Press, Carole Rempfer, Garrett Eickelberg, Beth Wilmot, Shannon K. McWeeney, Jeffrey W. Tyner, Brian J. Druker, Cristina E. Tognon
Summary: This article investigates acute myeloid leukemia (AML) with the Philadelphia chromosome (t(9;22)) translocation, its genomic features, and potential treatment strategies. The authors identify a case where a patient acquired a BCR::ABL alteration after a peripheral blood stem cell transplant and analyze the genetic changes and drug response. The study highlights the importance of genomic profiling and combination treatment strategies for this rare disease.
COLD SPRING HARBOR MOLECULAR CASE STUDIES
(2022)