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NPM1 mutation

E Suguna, R Farhana, E Kanimozhi, P SaiKumar, G Kumaramanickavel, Chitralekha Sai Kumar
Background &Objective: Acute myeloid leukemia (AML) is characterized by accumulation of ?20% myeloid premature blast cells in the bone marrow and most often found in the peripheral blood. AML is generally classified based on two groups, namely, French-American-British (FAB) and World Health Organization (WHO) systems. For better clinical management, cytogenetic findings in AML are necessary and in patients with normal karyotypes, molecular analysis becomes critical. Mutations of certain genes like Nucleophosmin 1gene (NPM1), Fms-related Tyrosine Kinase 3 (FLT3), CCAAT/Enhancer Binding Protein Alpha (CEBPA), Runt-related transcription factor 1(RUNX1), and Mixed Lineage Leukemia (MLL) play a crucial role in the risk management and clinical stratification of AML patients...
May 15, 2018: Cardiovascular & Hematological Disorders Drug Targets
Pedro Henrique Prata, Cécille Bally, Thomas Prebet, Christian Recher, Geoffrey Venton, Xavier Thomas, Emmanuel Raffoux, Arnaud Pigneux, Thomas Cluzeau, Judith Desoutter, Julie Gay, Claude Preudhomme, Pierre Fenaux, Lionel Adès
No abstract text is available yet for this article.
May 10, 2018: Haematologica
Min Zhang, Jiawei Yin, Qinghua He, Fan Zhang, Hongyu Huang, Biao Wu, Xuedong Wang, Hong Liu, Hongchao Yin, Yan Zeng, Robert Peter Gale, Depei Wu, Bin Yin
Although the topography of mutations in persons of predominately European-descent with acute myeloid leukemia (AML) is well-described this is less so in Asians. We studied AML-related mutations in 289 consecutive Chinese (mostly Han) with newly-diagnosed de novo AML. Full-length coding sequence of NPM1 and CEBPA, IDH1 and IDH2 hotspot mutations and WT1 mutations in exons 7 and 9 were analyzed by PCR as were correlations with clinical and laboratory variables. CEBPA mutations were detected in 20% of subjects (95% confidence interval [CI] 15, 25%), NPM1 mutations in 20% (15, 25%), IDH1 mutations in 4% (1, 6%), IDH2 mutations in 11% (7, 15%) and WT1 mutations in 6% (3, 9%)...
April 22, 2018: Leukemia Research
Sanjay S Patel, Frank C Kuo, Christopher J Gibson, David P Steensma, Robert J Soiffer, Edwin P Alyea, Yi-Bin A Chen, Amir T Fathi, Timothy A Graubert, Andrew M Brunner, Martha Wadleigh, Richard M Stone, Daniel J DeAngelo, Valentina Nardi, Robert P Hasserjian, Olga K Weinberg
Acute myeloid leukemia (AML) with mutated NPM1 is a newly recognized separate entity in the revised 2016 WHO classification, and is associated with a favorable prognosis. While previous studies have evaluated NPM1 in a binary fashion, little is known about the significance of its mutant allele burden at diagnosis, nor has the effect of co-mutations (other than FLT3) been extensively evaluated. We retrospectively used targeted sequencing data from 109 de novo AML patients with mutated NPM1 to evaluate the potential significance of NPM1 variant allele frequency (VAF), co-mutations, and clinical parameters on patient outcomes...
May 3, 2018: Blood
Li Li, Yanan Wang, Christine Guo Lian, Nina Hu, Hongzhong Jin, Yuehua Liu
BACKGROUND: Myeloid leukemia cutis is the terminology used for cutaneous manifestations of myeloid leukemia. OBJECTIVE: The purpose of this study was to study the clinical, histopathological and immunohistochemical features of myeloid leukemia cutis. METHODS: This was a retrospective study of clinical and pathological features of 10 patients with myeloid leukemia cutis. RESULTS: One patient developed skin lesions before the onset of leukemia, seven patients developed skin infiltration within 4-72 months after the onset of leukemia, and two patients developed skin lesions and systemic leukemia simultaneously...
March 2018: Anais Brasileiros de Dermatologia
Martin Culen, Zdenka Kosarova, Ivana Jeziskova, Adam Folta, Jana Chovancova, Tomas Loja, Nikola Tom, Vojtech Bystry, Veronika Janeckova, Dana Dvorakova, Jiri Mayer, Zdenek Racil
PURPOSE: This study aimed at analyzing the association of gene mutations and other acute myeloid leukemia (AML) characteristics with engraftment outcomes in immunodeficient mice and to select the engraftment outcomes that best reflect patient survival. METHODS: Mutations in 19 genes as well as leukemia- and patient-related characteristics were analyzed for a group of 47 de novo AML samples with respect to three engraftment outcomes: engraftment ability, engraftment intensity (percentage of hCD45+ cells) and engraftment latency...
May 2, 2018: Journal of Cancer Research and Clinical Oncology
Alison M Thompson, Jordan L Smith, Luke D Monroe, Jason E Kreutz, Thomas Schneider, Bryant S Fujimoto, Daniel T Chiu, Jerald P Radich, Amy L Paguirigan
Cancer is a heterogeneous disease, and patient-level genetic assessments can guide therapy choice and impact prognosis. However, little is known about the impact of genetic variability within a tumor, intratumoral heterogeneity (ITH), on disease progression or outcome. Current approaches using bulk tumor specimens can suggest the presence of ITH, but only single-cell genetic methods have the resolution to describe the underlying clonal structures themselves. Current techniques tend to be labor and resource intensive and challenging to characterize with respect to sources of biological and technical variability...
2018: PloS One
Sakurako Suma, Mamiko Sakata-Yanagimoto, Tran B Nguyen, Keiichiro Hattori, Taiki Sato, Masayuki Noguchi, Yasuhito Nannya, Seishi Ogawa, Rei Watanabe, Manabu Fujimoto, Naoya Nakamura, Manabu Kusakabe, Hidekazu Nishikii, Takayasu Kato, Shigeru Chiba
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare subtype of myeloid neoplasm. Clonal evolution in the development of BPDCN remains to be elucidated. In the present study, we examined clonal evolution in a case of BPDCN by analyzing the distribution of gene mutations in tumor cells and non-tumor blood cells. The p.D1129fs and p.K1005fs TET2 mutations, p.P95H SRSF2 mutation, and p.L287fs NPM1 mutation were identified in a skin tumor at diagnosis and peripheral blood mononuclear cells at relapse...
April 28, 2018: International Journal of Hematology
Jilei Zhang, Jinlong Shi, Gaoqi Zhang, Xinpei Zhang, Xinrui Yang, Siyuan Yang, Jing Wang, Xiaoyan Ke, Lin Fu
Brain and acute leukemia, cytoplasmic (BAALC) and ETS-related gene (ERG) expression levels are independent prognostic factors for acute myeloid leukemia (AML); however, their prognostic impacts on AML patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT) require further investigation. We studied 71 de novo AML patients treated with allo-HSCT and defined low and high expressers according to the median expression levels of BAALC and ERG at diagnosis respectively. High BAALC expression was associated with wild-type NPM1 (P = 0...
April 25, 2018: Annals of Hematology
Yi Zhou, Megan Othus, Roland B Walter, Elihu H Estey, David Wu, Brent L Wood
Relapse is the major cause of death in patients with acute myeloid leukemia (AML) after allogeneic hematopoietic cell transplant (HCT). Measurable residual disease (MRD) detected by multiparameter flow cytometry (MFC) before and after HCT is a strong, independent risk factor for relapse. As next generation sequencing (NGS) is increasingly applied in AML MRD detection, it remains to be determined if NGS can improve prediction of post-HCT relapse. Herein, we investigated pre-HCT MRD detected by MFC and NGS in 59 adult patients with NPM1-mutated AML in morphologic remission; 45 of the 59 had post-HCT MRD determined by MFC and NGS around day 28...
April 20, 2018: Biology of Blood and Marrow Transplantation
Rob S Sellar, Rosemary E Gale, Asim Khwaja, Maciej Garbowski, Marco Loddo, Kai Stoeber, Gareth H Williams, David C Linch
Cell cycle status may play an important role in directing patient therapy. We therefore determined the cell cycle status of leukaemic cells by immunophenotypic analysis of bone marrow trephine biopsies from 181 patients with acute myeloid leukaemia (AML) and correlated the results with biological features and clinical outcome. There was considerable heterogeneity between patients. The presenting white cell count significantly correlated with the proportion of non-quiescent cells (P < 0·0001), of cycling cells beyond G1 (P < 0·0001) and the speed of cycling (P < 0·0001)...
April 20, 2018: British Journal of Haematology
Yan Liu, Xiao-Yan Ke, Jing Wang, Ji-Jun Wang, Hong-Mei Jing, Fei Dong
OBJECTIVE: To investigate the clinical characteristics of acute myeloid leukemia(AML) patients with FLT3-ITD(Fms-like tyrosine kinase3, intenal tandem duplication) mutation and their response to treatment. METHODS: Retrospective analysis of 128 newly diagnosed AML (except type M3) patients was performed between January 2014 and July 2017. Patients were divided into FLT3-ITD mutated group and non-mutated group. Mutation detection was carried out by using polymerase chain reaction(PCR) and gene sequencing analysis...
April 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Y Liu, Y Cao, Y Lin, W-M Dong, R-R Lin, Q Gu, X-B Xie, W-Y Gu
The presence of recurrent gene mutations is increasingly important in acute myeloid leukemia (AML) and sheds new insights into the understanding of leukemogenesis, prognostic evaluation, and clinical therapeutic efficacy. Until now, ten-eleven translocation 2 (TET2) and isocitrate dehydrogenase 2 (IDH2) mutations were reported to be mutually exclusive in AML patients. Similarly, nucleophosmin (NPM1) and additional sex comb-like 1 (ASXL1) mutations were rarely coexisted in AML. A 47-year-old man diagnosed with high-risk AML presented simultaneous mutations of TET2-IDH2 and NPM1-ASXL1 revealed by next-generation sequencing...
April 2018: Transplantation Proceedings
Arvind Singh Mer, Johan Lindberg, Christer Nilsson, Daniel Klevebring, Mei Wang, Henrik Grönberg, Soren Lehmann, Mattias Rantalainen
BACKGROUND: Long non-coding RNA (lncRNA) expression has been implicated in a range of molecular mechanisms that are central in cancer. However, lncRNA expression has not yet been comprehensively characterized in acute myeloid leukemia (AML). Here, we assess to what extent lncRNA expression is prognostic of AML patient overall survival (OS) and determine if there are indications of lncRNA-based molecular subtypes of AML. METHODS: We performed RNA sequencing of 274 intensively treated AML patients in a Swedish cohort and quantified lncRNA expression...
April 7, 2018: Journal of Hematology & Oncology
Feng-Ming Tien, Hsin-An Hou, Cheng-Hong Tsai, Jih-Luh Tang, Chien-Yuan Chen, Yuan-Yeh Kuo, Chi-Cheng Li, Chien-Ting Lin, Ming Yao, Shang-Yi Huang, Bor-Sheng Ko, Szu-Chun Hsu, Shang-Ju Wu, Woei Tsay, Mei-Hsuan Tseng, Ming-Chih Liu, Chia-Wen Liu, Liang-In Lin, Wen-Chien Chou, Hwei-Fang Tien
OBJECTIVES: Acute myeloid leukemia (AML) with hyperleukocytosis (HL) is intuitively thought as a unique group with dismal prognosis. However, comprehensive studies regarding the genetic landscape and clinical outcome in this group of patients are limited. METHODS: 693 newly diagnosed de novo non-M3 AML patients were consecutively enrolled. We compared relevant mutations in 20 genes between AML patients with or without HL and exposed their prognostic implications...
April 6, 2018: European Journal of Haematology
Mohamed A M Ali, Emad K Ahmed, Magda M A Assem, Reham Helwa
Although the clinical features of isocitrate dehydrogenase ( IDH ) genetic aberrations have been well-characterized in acute myeloid leukemia (AML), definitive information on their prognostic significance is lacking. We aimed to explore the prognostic significance of IDH gene alterations in an Egyptian cohort of adult patients with de novo AML. Diagnostic peripheral blood samples from 51 AML patients were analyzed for the presence of mutations/SNPs in exon 4 of IDH1 and IDH2 genes using polymerase chain reaction amplification followed by direct sequencing...
April 2018: Indian Journal of Hematology & Blood Transfusion
Carmen Martínez-Losada, Juana Serrano-López, Josefina Serrano-López, Nelida I Noguera, Eduardo Garza, Liliana Piredda, Serena Lavorgna, María Antonietta Irno Consalvo, Tiziana Ottone, Valentina Alfonso, Juan Ramón Peinado, María Victoria Garcia-Ortiz, Teresa Morales-Ruiz, Andrés Jérez, Ana María Hurtado, Pau Montesinos, José Cervera, Esperanza Such, Marian Ibañez, Amparo Sempere, Miguel Ángel Sanz, Francesco Lo Coco, Joaquín Sánchez-García
No abstract text is available yet for this article.
April 5, 2018: Haematologica
Sylvie D Freeman, Robert K Hills, Paul Virgo, Naeem Khan, Steve Couzens, Richard Dillon, Amanda Gilkes, Laura Upton, Ove Juul Nielsen, James D Cavenagh, Gail Jones, Asim Khwaja, Paul Cahalin, Ian Thomas, David Grimwade, Alan K Burnett, Nigel H Russell
Purpose We investigated the effect on outcome of measurable or minimal residual disease (MRD) status after each induction course to evaluate the extent of its predictive value for acute myeloid leukemia (AML) risk groups, including NPM1 wild-type (wt) standard risk, when incorporated with other induction response criteria. Methods As part of the NCRI AML17 trial, 2,450 younger adult patients with AML or high-risk myelodysplastic syndrome had prospective multiparameter flow cytometric MRD (MFC-MRD) assessment...
March 30, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
S Wang, Y-X Zhang, T Huang, J-N Sui, J Lu, X-J Chen, K-K Wang, X-D Xi, J-M Li, J-Y Huang, B Chen
INTRODUCTION: Cytogenetically normal acute myeloid leukemia (CN-AML), which accounted for nearly half of total AML patients, is a highly heterogeneous subset of AML. The specific genetic profile and the ethnic features of CN-AML are worth to be studied. METHODS: Using deep sequencing technology, we detected the mutation pattern of 39 genes in 152 Chinese CN-AML patients and analyzed their clinical features. RESULTS: A total of 503 mutations of 39 genes were identified in 145 (95...
March 24, 2018: International Journal of Laboratory Hematology
Ann-Kathrin Eisfeld, Jessica Kohlschmidt, Krzysztof Mrózek, James S Blachly, Christopher J Walker, Deedra Nicolet, Shelley Orwick, Sophia E Maharry, Andrew J Carroll, Richard M Stone, Albert de la Chapelle, Eunice S Wang, Jonathan E Kolitz, Bayard L Powell, John C Byrd, Clara D Bloomfield
Thus far, only 5-15% of AML patients aged ≥60 years are cured with chemotherapy. Identification of patients who are less (more) likely to respond to standard chemotherapy might enable early risk stratification toward alternative treatment regimens. We used a next-generation sequencing panel of 80 cancer- and/or leukemia-associated genes to profile molecularly 423 older patients with de novo AML. Using variables identified in multivariable models and co-occurring mutations in NPM1-mutated AML, we classified the patients into good-, intermediate-, and poor-risk groups for complete remission (CR) attainment, disease-free (DFS), and overall survival (OS)...
February 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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