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Journal articles on the topic 'NPM1 mutation'

Author: Grafiati

Published: 4 June 2021

Last updated: 17 February 2022

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1

Huang, Min, Xinran Li, and Beverly S. Mitchell. "Cysteine 288 Regulates NPMc+ Cytoplasmic Localization and Sensitizes Leukemic Cells to Bortezomib-Induced Apoptosis Through a Redox-Sensitive Mechanism." Blood 120, no. 21 (2012): 532. http://dx.doi.org/10.1182/blood.v120.21.532.532.

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Abstract Abstract 532 Increasing evidence points to NPM1 mutations in exon 12 of the NPM1 gene (NPMc+) as a founder genetic event that defines a distinct leukemia entity accounting for approximately one-third of all AML. Unlike wild type NPM1, which resides predominantly in the nucleoli, NPMc+ mutants localize aberrantly in the leukemic-cell cytoplasm due to mutations at the C-terminus of NPM1. We have found that expression of NPMc+ in K562 and 32D cells sensitizes these cells to Bortezomib-induced apoptosis. Conversely, inducible small interfering RNA (shRNA)-induced knockdown of NPM1 in OCI-

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2

Lit, Benny Man Wai, Yok Lam Kwong, and Kit Fai Wong. "Immunohistochemical detection of cytoplasmic nucleophosmin in formalin-fixed paraffin-embedded marrow trephine biopsies in acute myeloid leukaemia." Journal of Clinical Pathology 69, no. 5 (2015): 409–14. http://dx.doi.org/10.1136/jclinpath-2015-203175.

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AimsNucleophosmin (NPM1) gene mutations resulting in cytoplasmic delocalisation of nucleophosmin (NPMc+) are the most common genetic abnormality in acute myeloid leukaemia (AML). In this study, we tested whether immunohistochemical (IHC) detection of cytoplasmic NPM1 (cNPM1) in formalin-fixed bone marrow trephine biopsies correlated with NPM1 mutations and the prognostic impact of NPM1 and fms-related tyrosine kinase 3-internal tandem duplication (FLT3-ITD) gene mutations was also assessed.MethodsA total of 71 Chinese adult de novo AML cases were evaluated for cNPM1 by IHC where the bone marro

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3

Chou, Wen-Chien, Shiu-Huey Chou, Ji-Shain Chiou, et al. "A “canonical” Npm1 mutation Knock-in Mouse Model Revealed Subtle but Definitive Myeloid Expansion with Poor HSC Niche Interaction." Blood 118, no. 21 (2011): 762. http://dx.doi.org/10.1182/blood.v118.21.762.762.

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Abstract Abstract 762 Nucleophosmin (NPM1) is a ubiquitous multifunctional phosphoprotein, which has nucleocytoplasmic shuttling activity. Somatic mutations in NPM1 gene result in cytoplasmic dislocation of NPM1 (NPM1c) and are frequently associated with acute myeloid leukemia (AML). The pathogenetic effects of mutated NPM1 protein have been explored by animal models including transgenic or “humanized” knock-in mouse models. Here, we demonstrate the first “canonical” mouse Npm1 mutant knock-in model. Different from the previously report of humanized NPM1 mutant knock-in model, we inserted TCTG

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4

Schnittger, Susanne, Wolfgang Kern, Claudia Tschulik, et al. "Minimal residual disease levels assessed by NPM1 mutation–specific RQ-PCR provide important prognostic information in AML." Blood 114, no. 11 (2009): 2220–31. http://dx.doi.org/10.1182/blood-2009-03-213389.

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Abstract Nucleophosmin (NPM1)–mutated acute myeloid leukemia (AML), which is recognized as a provisional entity in the World Health Organization 2008 classification of myeloid neoplasms, accounts for 30% of AML. We analyzed 1227 diagnostic and follow-up samples in 252 NPM1-mutated AML patients with 17 different NPM1 mutation–specific real-time quantitative polymerase chain reaction (RQ-PCR) assays. Paired diagnostic/relapse samples of 84 patients revealed stable NPM1 mutations in all cases, suggesting that they are pathogenetically early events and thus applicable for minimal residual disease

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5

Liso, Arcangelo, Filippo Castiglione, Antonio Cappuccio, et al. "One-Mutation Model Can Explain Age Incidence in AML Carrying Nucleophosmin (NPM1) Mutations." Blood 110, no. 11 (2007): 4312. http://dx.doi.org/10.1182/blood.v110.11.4312.4312.

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Abstract Acute myeloid leukemia (AML) carrying nucleophosmin (NPM1) mutations and cytoplasmic NPM (NPMc+ AML) accounts for about one-third of all AML patients, and exhibits distinctive biological and clinical features. The role of NPM1 mutations in leukemogenesis remains elusive. Mathematical models have been developed that, starting from cancer incidence data, allow to infer the somatic mutation rate, or the number of genetic events required to cause cancer. We collected data on age at diagnosis of AML patients from four centers in three different countries, and calculated age-specific rates

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Velu, Priya D., Chris C. S. Hsiung, Kiarash Salafian, Adam Bagg, Jennifer J. D. Morrissette, and Selina Luger. "Mutational Shift in FLT3 and NPM1-Positive Acute Myeloid Leukemia (AML) Relative to Therapy and Disease Progression." Blood 128, no. 22 (2016): 2866. http://dx.doi.org/10.1182/blood.v128.22.2866.2866.

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Abstract Introduction: Clonal myeloid malignancies such as AML are often characterized and treated based on specific mutation profiles identified at diagnosis. Routine use of clinical cancer next-generation sequencing (NGS) in diagnosis and disease monitoring has resulted in sequential mutation profiles of individual patients. On NGS profiling at interval follow-ups, mutations identified at diagnosis may change, or shift, through disease course. Here we track FLT3 and NPM1 mutations in the context of therapy, disease progression, clinical course, and pathology. Methods: Patients with AML or MD

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7

Zhang, Su-Jiang, Jianyong Li, and Yangli Han. "The Analysis of FLT3 and NPM1 Gene Mutations in Chinese Patients with Acute Myeloid Leukemia." Blood 114, no. 22 (2009): 4136. http://dx.doi.org/10.1182/blood.v114.22.4136.4136.

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Abstract Abstract 4136 Objective To investigate the frequency of nucleophosmin(NPM1) gene mutations and FLT3 mutations in Chinese patients with acute myeloid leukemia (AML) and its correlation with clinical feature and prognosis. Methods 123 first diagnosed AML patients were involved in our study. Polymerase chain reaction (PCR) combined with electrophoresis was directly used to detect FLT3-ITD mutations, PCR combined with EcoRV digestion was used to detect FLT3-TKD mutation, and PCR combined with directly sequencing was used to detect NPM1 mutations. Results (1) In the 123 first diagnosed AML

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8

Xu, Jie, Wu Zhang, Xiaojing Yan, et al. "NPM1 Mutation Contributes to Hematological Dysfunction By Disrupting H3K79 Methylation." Blood 128, no. 22 (2016): 2702. http://dx.doi.org/10.1182/blood.v128.22.2702.2702.

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Abstract NPM1 is one of the most frequent acquired mutated genes in acute myeloid leukemia (AML). Previous studies have shown that NPM1 mutation (NPMc+) established the distinctive gene expression signatures, which were associated with mixed lineage leukemia (MLL)-target genes, like MEIS1 and HOXA cluster. In AML carrying MLL fusion-oncoproteins, DOT1L-mediated histone 3 lysine 79 (H3K79) methylation is implicated in the regulation of MLL-target genes. Compared with MLL abnormalities, NPM1 variants preserve the similar transcriptional characteristics. However, whether NPM1 mutation could affec

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9

Oelschlaegel, Uta, Sina Koch, Markus Schaich, et al. "A Rapid Flow Cytometric Method for the Detection of NPM1 Mutated Patients with Acute Myeloid Leukemia (AML)." Blood 112, no. 11 (2008): 1490. http://dx.doi.org/10.1182/blood.v112.11.1490.1490.

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Abstract In about 30% of patients with AML the predominantly nucleolar protein nucleophosmin (NPM1) is dislocated into the cytoplasm (NPM1c), caused by mutations in exon 12 of the NPM1 gene. NPM1-mutations are associated with a specific subgroup of AML with particular clinical, cytogenetic, and prognostic characteristics, and NPM1-mutations are part of the new WHO classification, which makes the detection an important diagnostic aspect. Thus far, NPM1 mutations can be detected either using molecular techniques or immunocyto- or histochemistry. We reasoned that by the cytoplasmic dislocation, t

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Chauhan, Pradeep Singh, Rakhshan Ihsan, L. C. Singh, Dipendra Kumar Gupta, Vishakha Mittal, and Sujala Kapur. "Mutation of NPM1 and FLT3 Genes in Acute Myeloid Leukemia and Their Association with Clinical and Immunophenotypic Features." Disease Markers 35 (2013): 581–88. http://dx.doi.org/10.1155/2013/582569.

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Background.Mutations in NPM1 and FLT3 genes represent the most frequent genetic alterations and important diagnostic and prognostic indicators in patients with acute myeloid leukemia (AML).Objective.We investigated the prevalence and clinical characteristics of NPM1 and FLT3 mutations in 161 patients of de novo AML including adults and children.Results.NPM1 mutation was found in 21% and FLT3 mutation in 25% of the AML patients. Thirteen (8%) samples were positive for both NPM1 and FLT3/ITD mutations. Adult patients had significantly higher frequency of NPM1 mutation than children (25.8% versus

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11

Sportoletti, Paolo, Emanuela Varasano, Roberta Rossi, et al. "The human NPM1 mutation A perturbs megakaryopoiesis in a conditional mouse model." Blood 121, no. 17 (2013): 3447–58. http://dx.doi.org/10.1182/blood-2012-08-449553.

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12

Brunetti, Lorenzo, Michael Gundry, Anna Guzman, et al. "Acute Myeloid Leukemia with Mutated NPM1 Is Dependent on the Cytoplasmic Localization of NPM1c." Blood 130, Suppl_1 (2017): 877. http://dx.doi.org/10.1182/blood.v130.suppl_1.877.877.

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Abstract NPM1 mutations are among the most common mutations in acute myeloid leukemia (AML), being found in about 30% of de novo AML in adults. NPM1 is a multifunctional nucleolar chaperone involved in genomic stability and ribosome biogenesis. All the mutations in NPM1 described so far result in cytoplasmic protein localization (NPM1c) through the acquisition of a nuclear export signal (NES) at the C-terminus. Based on these observations, we hypothesized that cytoplasmic localization of NPM1c is necessary for AML pathogenesis and maintenance. To test our hypothesis, we edited the C-terminus o

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13

Corbacioglu, Andrea, Stefan Fröhling, Peter Paschka, et al. "Acute Myeloid Leukemia (AML) with 9q Aberrations Occuring within a Non-Complex Karyotype Is Highly Associated with CEBPA and NPM1 Mutations - A Joint Analysis of the German-Austrian AML Study Group (AMLSG) and Cancer and Leukemia Group B (CALGB)." Blood 110, no. 11 (2007): 762. http://dx.doi.org/10.1182/blood.v110.11.762.762.

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Abstract Background: In a previous study we showed that AML with deletion 9q (9q-) occurring in the context of a non-complex karyotype is associated with CEBPA loss-of-function mutations; their prevalence was 41% (Frohling et al., Genes Chromosomes Cancer2005;42:427). We hypothesized that disruption of CEBPA function and loss of a critical segment of 9q cooperate in leukemogenesis. This is consistent with the model of leukemogenesis, in which mutations from different complementation groups cooperate, e.g., CEBPA mutations, representing the class II mutation impairing differentiation, occur sim

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14

Huet, Sarah, Laurent Jallades, Carole Charlot, et al. "New Quantitative Method to Identify NPM1 Mutations in Acute Myeloid Leukaemia." Leukemia Research and Treatment 2013 (April 9, 2013): 1–5. http://dx.doi.org/10.1155/2013/756703.

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Somatic mutations in the NPM1 gene, which encodes for nucleophosmin, have been reported to be the most frequent genetic abnormalities found in acute myeloid leukaemia (AML). Their identification and quantification remain crucial for the patients’ residual disease monitoring. We investigated a new method that could represent a novel reliable alternative to sequencing for its identification. This method was based on high-resolution melting analysis in order to detect mutated patients and on an allele-specific oligonucleotide real-time quantitative polymerase chain reaction (ASO-RQ-PCR) for the i

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Obaid Othman, Galawezh, Nawsherwan Sadiq Mohammad, and Chiman Hameed Saeed. "Molecular study of Nucleophosmin 1(NPM1) gene in acute myeloid leukemia in Kurdish population." African Health Sciences 21, no. 2 (2021): 687–92. http://dx.doi.org/10.4314/ahs.v21i2.26.

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Background: In patients with Acute Myeloid Leukemia (AML) the most frequent acquired molecular abnormalities and important prognostic indicators is nucleophosmin-1 (NPM1) mutations. Our study aims was molecular study of Nucleop- hosmin -1 gene in Acute Myeloid Leukemia in Kurdish population. Patients &Methods: A total of 50 patients with AML, (36) of them attended Nanakaly Hospital and (14) attended Hiwa Hospital and 30 healthy subjects as control were selected randomly, all were matched of age and gender. Polymerase chain reaction (PCR) was used for detection of NPM1 gene mutation.

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Wu, Lingyun, Xiao Li, Feng Xu, et al. "DNMT3Awt NPM1-Mutation Defines a Subgroup of MDS with Special Favorable Outcomes Towards Decitabine Therapy." Blood 134, Supplement_1 (2019): 1724. http://dx.doi.org/10.1182/blood-2019-124008.

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Hypomethylating agents (HMA) (including decitabine and azacitidine) are considered standard of care for higher risk myelodysplastic syndrome (MDS). Clinical data showed only about 30% cases achieved complete response (CR) by decitabine. Mutations in the nucleophosmin-1 (NPM1) gene is one of the most common somatic mutations identified in de novo acute myeloid leukemia (AML) and have also been found in 1% to 5% of MDS patients although with different mutation locus (L287fs) when compared to that in AML (W288fs). Till now, the response and survival of NPM1-mutated MDS patients treated with HMA r

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Yamaguchi, Shunichiro, Eisaku Iwanaga, Kenji Tokunaga, et al. "IDH1 and IDH2 Mutations Confer An Adverse Effect In Patients With Acute Myeloid Leukemia Lacking The NPM1 Mutation." Blood 122, no. 21 (2013): 4977. http://dx.doi.org/10.1182/blood.v122.21.4977.4977.

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Abstract Purpose Recurrent mutations in the genes coding the isocitrate dehydrogenases IDH1 and IDH2 have recently been identified in patients with acute myeloid leukemia (AML). However, the prognostic importance of IDH1 and IDH2 mutations is not consistent among several studies. In the present study, we examined the incidence and prognostic impacts of IDH1 and IDH2 mutations in Japanese adults with AML. Patients and Methods A total of 233 adults with AML were subjected to the study. Age ranged from 15 to 86 years, with a median of 57.0 years. Patients with aged 69 or less were treated with th

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Spiekermann, Karsten, Annika Dufour, Gudrun Mellert, et al. "NPM-1, but Not FLT3-ITD Mutations Predict Early Blast Cell Clearance and CR Rate in Patients with Normal Karyotype AML or High-Risk Myelodysplastic Syndrome (MDS)." Blood 108, no. 11 (2006): 805. http://dx.doi.org/10.1182/blood.v108.11.805.805.

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Abstract Background: Mutations in the NPM1 gene represent the most frequent alterations in patients with AML and are associated with a favourable clinical outcome. Patients and Methods: We analyzed 803 patients that were treated in the AMLCG2000 study. Patients with de novo or secondary AML or high-risk myelodysplastic syndrome (MDS) were randomly assigned upfront for induction therapy containing one course with standard dose and one course with high-dose cytarabine, or two courses with high-dose cytarabine, and in the same step received postremission prolonged maintenance or busulfan/cyclopho

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Lu, Ying, Wengang Chen, Wei Chen, Anthony Stein, Lawrence M. Weiss, and Qin Huang. "C/Ebpa Gene Mutation and C/Ebpa Promoter Hypermethylation in Acute Myeloid Leukemia with Normal Cytogenetics." Blood 114, no. 22 (2009): 1570. http://dx.doi.org/10.1182/blood.v114.22.1570.1570.

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Abstract Abstract 1570 Poster Board I-594 Acute myeloid leukemia with normal cytogenetics (CN-AML) represents approximately 40-50% of de novo AML cases and constitutes the single largest cytogenetic group of AML. CN-AML is composed of a heterogeneous group of AML considered to be more or less in the intermediate prognostic category. Stratified prognostic determinants are required to predict which patients in this heterogeneous category have an increased risk of relapse, resistance to therapy or long term disease outcomes. The CCAAT enhancer binding protein alpha (C/EBPA) is a key transcription

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Ma, Wanlong, Xi Zhang, Iman Jilani, et al. "Detection of Nucleophosmin Gene Mutations in Plasma from Patients with Acute Myeloid Leukemia: Clinical Significance and Implications." Blood 110, no. 11 (2007): 2855. http://dx.doi.org/10.1182/blood.v110.11.2855.2855.

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Abstract Nucleotides insertion in the nucleophosphamin (NPM1) gene has been reported in about one third of patients with acute myeloid leukemia (AML). Multiple studies showed that the presence of NPM1 mutations associated with better outcome in patients with AML. Studies reported to date have analyzed leukemic cells obtained from bone marrow or peripheral blood. We tested for mutations in the NPM1 gene using peripheral blood plasma and compared results with clinical outcome from a single institution. Analyzing plasma from 98 newly diagnosed patient with AML showed NPM1 mutation in 24 (23%) of

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Meyer, Alison E., Cary Stelloh, Joseph B. Fisher, et al. "Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML." Blood 134, Supplement_1 (2019): 2515. http://dx.doi.org/10.1182/blood-2019-126042.

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Acute myeloid leukemia (AML) is a cancer that results in an accumulation of abnormal myeloid cells in the bone marrow. While some targeted therapies are currently in development, the high level of genetic heterogeneity and low 5-year survival rate of AML underscore the need to uncover further therapeutic targets. 30 somatic mutations are recurrent in adult patients, with the average patient harboring 5-15 mutations (1). It is unknown how each genetic lesion interacts with others to change the course of the disease. Determining this necessitates the use of combinatorial genetics, which has the

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Suzuki, Tatsuya, Hitoshi Kiyoi, Kazutaka Ozeki, et al. "Clinical Characteristics and Prognostic Implications of NPM1 Mutations in Acute Myeloid Leukemia." Blood 106, no. 11 (2005): 2368. http://dx.doi.org/10.1182/blood.v106.11.2368.2368.

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Abstract Nucleophosmin (NPM) is a nucleolar protein with multi-functions including centromere duplication, nuclear-cytoplasmic shuttling, ribosomal biogenesis, p53 stability. NPM1 mutations were found in a large number of patients with acute myeloid leukemia (AML) especially with normal karyotype. The mutations lead to the aberrant subcellular localization of NPM protein. However, their impacts on clinical outcome remain controversial. We screened the mutations of NPM1 in 257 AML patients and analyzed the clinical significance. NPM1 mutations were found in 64 of 257 patients (24.9%). Seven typ

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Verhaak, Roel G. W., Chantal S. Goudswaard, Wim van Putten, et al. "Mutations in nucleophosmin (NPM1) in acute myeloid leukemia (AML): association with other gene abnormalities and previously established gene expression signatures and their favorable prognostic significance." Blood 106, no. 12 (2005): 3747–54. http://dx.doi.org/10.1182/blood-2005-05-2168.

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Mutations in nucleophosmin NPM1 are the most frequent acquired molecular abnormalities in acute myeloid leukemia (AML). We determined the NPM1 mutation status in a clinically and molecularly well-characterized patient cohort of 275 patients with newly diagnosed AML by denaturing high-performance liquid chromatography (dHPLC). We show that NPM1 mutations are significantly underrepresented in patients younger than 35 years. NPM1 mutations positively correlate with AML with high white blood cell counts, normal karyotypes, and fms-like tyrosine kinase-3 gene (FLT3) internal tandem duplication (ITD

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Hindley, Andrew, Mark Alexander Catherwood, Mary Frances McMullin, and Ken I. Mills. "Significance of NPM1 Gene Mutations in AML." International Journal of Molecular Sciences 22, no. 18 (2021): 10040. http://dx.doi.org/10.3390/ijms221810040.

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The aim of this literature review is to examine the significance of the nucleophosmin 1 (NPM1) gene in acute myeloid leukaemia (AML). This will include analysis of the structure and normal cellular function of NPM1, the type of mutations commonly witnessed in NPM1, and the mechanism by which this influences the development and progression of AML. The importance of NPM1 mutation on prognosis and the treatment options available to patients will also be reviewed along with current guidelines recommending the rapid return of NPM1 mutational screening results and the importance of employing a suita

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Chen, Weina, Georgios Z. Rassidakis, and L. Jeffrey Medeiros. "Nucleophosmin Gene Mutations in Acute Myeloid Leukemia." Archives of Pathology & Laboratory Medicine 130, no. 11 (2006): 1687–92. http://dx.doi.org/10.5858/2006-130-1687-ngmiam.

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Abstract Context.—Heterozygous mutation of the nucleophosmin gene (NPM1) has recently been described as one of the most frequent genetic lesions in acute myeloid leukemia (AML). Objective.—(1) To discuss the clinical, morphologic, immunophenotypic, and genetic features of AML with NPM1 gene mutations, along with various detection methods, (2) To explore the mechanisms by which NPM1 gene mutations contribute to leukemogenesis. Data sources/extraction.—Data were analyzed from 7 recently published papers. Results.—NPM1 gene mutations tend to occur more frequently in women, and also tend to be ass

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Falini, Brunangelo, Maria Paola Martelli, Niccolò Bolli, et al. "Acute myeloid leukemia with mutated nucleophosmin (NPM1): is it a distinct entity?" Blood 117, no. 4 (2011): 1109–20. http://dx.doi.org/10.1182/blood-2010-08-299990.

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Abstract After the discovery of NPM1-mutated acute myeloid leukemia (AML) in 2005 and its subsequent inclusion as a provisional entity in the 2008 World Health Organization classification of myeloid neoplasms, several controversial issues remained to be clarified. It was unclear whether the NPM1 mutation was a primary genetic lesion and whether additional chromosomal aberrations and multilineage dysplasia had any impact on the biologic and prognostic features of NPM1-mutated AML. Moreover, it was uncertain how to classify AML patients who were double-mutated for NPM1 and CEBPA. Recent studies

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Bertoli, Sarah, Suzanne Tavitian, Emilie Berard, et al. "More Than 10% of NPM1-Mutated AML Relapses Occur after 5 Years from Complete Remission." Blood 132, Supplement 1 (2018): 2802. http://dx.doi.org/10.1182/blood-2018-99-113109.

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Abstract The majority of relapses in acute myeloid leukemia (AML) patients occur in the first or second year following complete remission. In routine, AML patients are followed during five years because few relapses can occur after three or five years. These late or very late relapses remain poorly described, particularly at the molecular level, with only few consistent series in the literature. (Medeiros B et al., Leuk Lymphoma 2007; Verma D et al., Leuk Lymphoma 2010; Watts J et al., Leuk Res 2014). We retrospectively studied all AML relapses occurring after complete remission (CR) obtained

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Yi, Sha, Yan Chen, Lu Wen, et al. "Deguelin, Selective Silencing of the NPM1 Mutant Protein, Induces Differentiation and Potentiates Apoptosis in Acute Myeloid Leukemia Cells Carrying NPM1 Mutation." Blood 120, no. 21 (2012): 2435. http://dx.doi.org/10.1182/blood.v120.21.2435.2435.

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Abstract Abstract 2435 Acute myeloid leukemia (AML) carrying nucleophosmin (NPM1) gene mutations, leading to aberrant cytoplasmic expression of the nucleolar protein NPM1, accounts for about one-third of adult AML and shows distinctive biological and clinical features. In spite of the relatively good prognosis of NPM1-mutated AML, there are still cases that show poorer outcome, especially those associated with FLT3-ITD mutation and elderly patient population. Therefore new therapeutic strategies need to be explored. Deguelin, a rotenoid isolated from several plant species including Mondulea se

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Kövy, Petra, Zoltán Őrfi, András Bors, et al. "Nucleophosmin1 and isocitrate dehydrogenase 1 and 2 as measurable residual disease markers in acute myeloid leukemia." PLOS ONE 16, no. 6 (2021): e0253386. http://dx.doi.org/10.1371/journal.pone.0253386.

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Monitoring measurable residual disease (MRD) in acute myeloid leukemia (AML) plays an important role in predicting relapse and outcome. The applicability of the leukemia-initiating nucleophosmin1 (NPM1) gene mutations in MRD detection is well-established, while that of isocitrate dehydrogenase1/2 (IDH1/2) mutations are matter of debate. The aim of this study was to investigate the stability of NPM1 and IDH1/2 mutations at diagnosis and relapse retrospectively in 916 adult AML patients. The prognostic value of MRD was evaluated by droplet digital PCR on the DNA level in a selected subgroup of p

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Thiede, Christian, Sina Koch, Eva Creutzig, et al. "Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML)." Blood 107, no. 10 (2006): 4011–20. http://dx.doi.org/10.1182/blood-2005-08-3167.

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Mutations of the nucleophosmin (NPM1) gene have recently been described in patients with acute myeloid leukemia (AML). To clarify the prevalence as well as the clinical impact of this mutation, we investigated 1485 patients with AML for NPM1 exon 12 mutations using fragment analysis. A 4 bp insert was detected in 408 of 1485 patients (27.5%). Sequence analysis revealed known mutations (type A, B, and D) as well as 13 novel alterations in 229 analyzed cases. NPM1 mutations were most prevalent in patients with normal karyotype (NK) (324 of 709; 45.7%) compared with 58 of 686 with karyotype abnor

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Wang, Min, Na He, Tian Tian, Lu Liu, Shuang Yu, and Daoxin Ma. "Mutation Analysis of JAK2V617F, FLT3-ITD, NPM1, and DNMT3A in Chinese Patients with Myeloproliferative Neoplasms." BioMed Research International 2014 (2014): 1–8. http://dx.doi.org/10.1155/2014/485645.

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Since the discovery of JAK2V617F tyrosine kinase-activating mutation, several genes have been found mutated in myeloproliferative neoplasms (MPNs). FLT3-ITD, NPM1, and DNMT3A mutations frequently occurred in AML patients and have been found conferred with myeloproliferative neoplasms in mouse model. Therefore, we sought to search for mutations in JAK2V617F, FLT3-ITD, NPM1, and DNMT3A in 129 cases including 120 classic MPN cases and 9 MDS/MPN cases. JAK2V617F mutation was found in 60% of the 120 classic MPNs. However, none of the patients displayed FLT3-ITD and NPM1 mutations; only 2 patients h

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Lee, Seung-Shin, Jae-Sook Ahn, Taehyung Kim, et al. "RUNX1 Mutation in Cytogenetically Normal Acute Myeloid Leukemia : Clinical Implications, Co-Mutation Analysis." Blood 128, no. 22 (2016): 5253. http://dx.doi.org/10.1182/blood.v128.22.5253.5253.

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Abstract Background and Objectives Acute Myeloid Leukemia (AML) is a cytogenetically and molecularly heterogeneous disease. In the recent decades, many genetic mutations and their clinical significances in AML have been identified with the development of new genomics technology. Based on these advances, new 2 entities were added to the WHO 2008 classification : AML with mutated NPM1 and AML with mutated CEBPA. Likewise, AML with RUNX1 mutation are now considered as a new provisional entity in the next update of WHO classification. In this work, we characterized patients with cytogenetically no

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Hou, Hsin-An, Wen-Chien Chou, Chien-Yuan Chen, et al. "Characterization of Acute Myeloid Leukemia with PTPN11 Mutation - The Mutation Is Closely Associated with NPM1 Mutation but Inversely Related to FLT3/ITD." Blood 110, no. 11 (2007): 3490. http://dx.doi.org/10.1182/blood.v110.11.3490.3490.

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Abstract The development of acute myeloid leukemia (AML) is a multistep process. Recently, somatic mutations of PTPN11, the gene encoding non-receptor protein tyrosine phosphatase SHP-2, were observed in some hematological malignancies. However, the characteristics of adult AML with PTPN11 mutations have not been comprehensively studied, and the specific genetic alteration cooperative with a PTPN11 mutation in the leukemogenesis remains largely unknown. In this study, PTPN11 mutation and its association with other gene aberrations were analysed for 272 adult patients with de novo AML. Missense

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Bhatnagar, Bhavana, Shelley Orwick, Nyla A. Heerema, et al. "NPM1 mutations Using Deep Amplicon Sequencing and Broad Next Generation Sequencing at the Time of Complete Remission Is Informative to Predicting Risk of Relapse Following Intensive Chemotherapy." Blood 134, Supplement_1 (2019): 1329. http://dx.doi.org/10.1182/blood-2019-130856.

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Introduction: NPM1 gene mutations are a common molecular aberration in acute myeloid leukemia (AML). In the absence of concurrent high FLT3-ITD ratio mutations (&gt;0.5), NPM1 mutations typically associate with higher complete remission (CR) rates following intensive induction chemotherapy. NPM1 mutations have been shown to be stable markers of persistent disease or impending relapse during CR or complete remission with incomplete count recovery (CRi). Given the clinical implications that persistent NPM1 mutations can have during CR/CRi, we used Deep Amplicon sequencing on CR/CRi bone marr

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Martelli, Maria Paola, Valentina Pettirossi, Elisabetta Bonifacio, et al. "Evidence for CD34+ Hematopoietic Progenitor Cell Involvement in Acute Myeloid Leukemia with NPM1 Gene Mutation: Implications for the Cell of Origin." Blood 112, no. 11 (2008): 307. http://dx.doi.org/10.1182/blood.v112.11.307.307.

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Abstract Acute myeloid leukemia expressing mutated NPM1 gene and cytoplasmic nucleophosmin (NPMc+ AML) [Falini B et al, NEJM2005;352:254–266] is a new entity of WHO classification that shows distinctive biological and clinical features, including a unique molecular signature characterized by downregulation of CD34 and upregulation of most HOX genes [Falini B et al, Blood2007;109:874–885]. Involvement of HOX genes in the maintenance of the stem-cell phenotype strongly suggest that AML with mutated NPM1 originates from a multipotent hematopoietic progenitor (HSC). This view is also supported by

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Green, Claire L., Kenneth K. Koo, Robert K. Hills, Alan K. Burnett, David C. Linch, and Rosemary E. Gale. "Prognostic Significance of CEBPA Mutations in a Large Cohort of Younger Adult Patients With Acute Myeloid Leukemia: Impact of Double CEBPA Mutations and the Interaction With FLT3 and NPM1 Mutations." Journal of Clinical Oncology 28, no. 16 (2010): 2739–47. http://dx.doi.org/10.1200/jco.2009.26.2501.

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Purpose To determine the clinical relevance of mutations in the CCAAT/enhancer binding protein α (CEBPA) gene in acute myeloid leukemia (AML) and to examine factors that might modify prognostic impact. Patients and Methods The entire CEBPA coding sequence was screened in 1,427 young adult patients with AML, excluding acute promyelocytic leukemia, using denaturing high-performance liquid chromatography and direct sequencing. Results Of 107 patients (7%) with CEBPA mutations, 48 patients (45%) had one mutation (CEBPA-single), and 59 patients (55%) had two mutations (CEBPA-double). The incidence

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Kristensen, Thomas, Birgitte Strange Preiss, Lone Friis, and Michael B. Møller. "Mutation in the Nucleophosmin Gene (NPM1) Is a Stable Marker for Minimal Residual Disease Monitoring in Acute Myeloid Leukemia Patients with Increased Sensitivity and Specificity Compared to Expression of the Wilms Tumor (WT1) Gene." Blood 114, no. 22 (2009): 1602. http://dx.doi.org/10.1182/blood.v114.22.1602.1602.

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Abstract Abstract 1602 Poster Board I-628 Mutation in exon 12 of the nucleophosmin (NPM1) gene occurs in approximately 60% of acute myeloid leukemia (AML) patients with normal karyotype. To date, molecular minimal residual disease (MRD) monitoring in this patient group has primarily been based on expression of the Wilms tumor gene (WT1), although expression of WT1 in non-leukemia cells limits the specificity of this marker. Mutation in the NPM1 gene is potentially a superior MRD marker compared to WT1 gene expression by being specific to the malignant clone. The use of NPM1 mutation as a MRD m

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Suzuki, Rikio, Makoto Onizuka, Masako Shimada, et al. "Clinical Significance of FLT3/ITD and NPM1 Mutation in Acute Myeloid Leukemia (AML)." Blood 108, no. 11 (2006): 4442. http://dx.doi.org/10.1182/blood.v108.11.4442.4442.

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Abstract Acute myeloid Leukemia(AML) is known as heterogeneous disease, especially in adult AMLs. FLT3/ITD and NPM1 mutation are frequentry seen at the same time, and expected as a role of stratification factor. FLT3/ITDs are the most frequent genetic alterations in AML, found in approximately 20% of adult AMLs. FLT3/ITD is associated with leukocytosis and worse prognoses. ITD mutations vary in size and location, ranging in size from 3 to hundreds of nucleotides. Recently, it is reported that nucleophosmin gene(NPM1) is mutated in a high proportion of gene(NPM1) is mutated in a high proportion

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Yang, Xi, Krupa Shridhar, Jayashree Sanjeeviraman, and Gwo-Jen Day. "Assay Specificity and Sensitivity Evaluation of Cepheid GeneXpert® NPM1 Prototype for Mutation Detection in Acute Myeloid Leukemia." Blood 136, Supplement 1 (2020): 27–28. http://dx.doi.org/10.1182/blood-2020-140809.

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Background: Mutations in thenucleophosmin1 (NPM1) are considered as founder mutations in acute myeloid leukemia (AML). NPM1 mutations in exon 12 occur in about 60% adult AML patients with normal karyotype. Among all NPM1 subtypes, type A (69.15%), type B (7.41%) and type D (7.41%) are found to be most frequent. The evaluation of minimal residual disease (MRD) has been considered critical to more precisely define AML response to clinical treatment, thereby refining disease risk stratification. Currently, AML with NPM1 gene mutations is recognized as a distinct entity, due to its unique clinical

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Krönke, Jan, Lars Bullinger, Veronica Teleanu, et al. "Clonal evolution in relapsed NPM1-mutated acute myeloid leukemia." Blood 122, no. 1 (2013): 100–108. http://dx.doi.org/10.1182/blood-2013-01-479188.

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Key Points Relapsed AML with NPM1 mutation is genetically related to the primary leukemia and characterized by an increase in high-risk aberrations. DNMT3A mutations show the highest stability and thus may precede NPM1 mutations.

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Thiede, Christian, Sina Koch, Eva Creutzig, et al. "Mutations of the Nucleophosmin (NPM1) Gene Are Common in Adult Acute Myeloid Leukemia and Associated with Favorable Prognosis If Present without FLT3-ITD Mutation." Blood 106, no. 11 (2005): 224. http://dx.doi.org/10.1182/blood.v106.11.224.224.

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Abstract Nucleophosmin (NPM1) is a nucleo-cytoplasmic shuttling protein with multiple functions, including regulation of the p53-ARF pathway. Rearranged NPM1 has been found in a small subgroup of AML patients with t(5;17). Recently, mutations of NPM1 have been described in patients with acute myeloid leukaemia, especially in patients with normal karyotype (Falini et al, NEJM 2005). These mutations lead to an elongated protein which is retained in the cytoplasm. The precise prevalence as well as the long term clinical impact of this mutation is currently unclear. Patients and methods: We invest

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Marumo, Atsushi, Hiroki Yamaguchi, Yuho Najima, et al. "The Presence of Minimal Residual Disease, As Determined By Highly Sensitive Quantitation of NPM1-Mutatation, Provided Powerful Prognostic Information in Acute Myeloid Leukemia." Blood 134, Supplement_1 (2019): 5097. http://dx.doi.org/10.1182/blood-2019-127725.

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Background: As recurrence of acute myeloid leukemia (AML) is difficult to predict, it is important to detect it by measuring minimal residual disease (MRD). PML-RARA, RUNX-RUNX1T1, CBFB-MYH11 are regarded as the reliable MRD markers. However, in AML with normal karyotype and many other forms, no MRD markers have been established. NPM1 mutations, occurring in approximately 30% of adult AML cases, and 50-60% of AML cases with normal karyotype, represent one of the most frequent mutations in AML. Recently, NPM1 mutation is reported to be useful in assessing MRD. We undertook a retrospective and p

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Schnittger, Susanne, Tamara Weiss, Frank Dicker, et al. "NPM1 Mutations Have a High Impact On the Development of Secondary AML." Blood 114, no. 22 (2009): 999. http://dx.doi.org/10.1182/blood.v114.22.999.999.

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Abstract Abstract 999 Poster Board I-21 NPM1 mutations are frequently reported to be typical for de novo AML and are regarded as prognostically favorable if not associated with FLT3-ITD. These mutations have rarely been reported in secondary AML after myelodysplastic syndrome (MDS) or after myeloproliferative neoplasms (MPN). We have detected NPM1 mutations in 37/283 patients with AML after a previous MDS (s-AML) (13.1%) and in 6/67 after a previous MPN (9%). Here we describe the characteristics of these 43 NPM1 mutated s-AML cases to show the involvement of NPM1 mutations in development of se

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Cazzaniga, Giovanni, Maria Grazia Dell'Oro, Cristina Mecucci, et al. "Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype." Blood 106, no. 4 (2005): 1419–22. http://dx.doi.org/10.1182/blood-2005-03-0899.

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AbstractNucleophosmin (NPM) is a nucleocytoplasmic shuttling protein involved in leukemia-associated chromosomal translocations, and it regulates the alternate reading frame (ARF)-p53 tumorsuppressor pathway. Recently, it has been demonstrated that mutations of the NPM1 gene alter the protein at its C-terminal, causing its cytoplasmic localization. Cytoplasmic NPM was detected in 35% of adult patients with primary non-French-American-British (FAB) classification M3 acute myeloid leukemia (AML), associated mainly with normal karyotype. We evaluated the prevalence of the NPM1 gene mutation in no

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Jekic, Biljana, Vera Bunjevacki, Valerija Dobricic, et al. "NPM1 gene mutations in children with Myelodysplastic syndromes." Archives of Biological Sciences 63, no. 3 (2011): 649–53. http://dx.doi.org/10.2298/abs1103649j.

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Myelodysplastic syndromes (MDS) are rare in children and only a few studies have analyzed their molecular mechanisms. The NPM1 gene encodes for nucleophosmin (NPM) which regulates hematopoiesis. Mutations in exon 12 of the NPM1 cause the nucleophosmin cytoplasmic dislocation and disrupt its functions. We have analyzed mutations of the NPM1 gene in archival bone marrow samples from 17 children with MDS and detected, in one patient, transition C to T in codon 293. To the best of our knowledge, this is the first analysis of NPM1 mutations in childhood MDS and the very first missense mutation of t

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Gale, Rosemary E., Katarina Lamb, Christopher Allen, et al. "Simpson's Paradox and the Impact of Different DNMT3A Mutations on Outcome in Younger Adults With Acute Myeloid Leukemia." Journal of Clinical Oncology 33, no. 18 (2015): 2072–83. http://dx.doi.org/10.1200/jco.2014.59.2022.

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Purpose To evaluate the impact of DNMT3A mutations on outcome in younger patients with cytogenetic intermediate-risk acute myeloid leukemia. Patients and Methods Diagnostic samples from 914 patients (97% < 60 years old) were screened for mutations in DNMT3A exons 13 to 23. Clinical outcome was evaluated according to presence or absence of a mutation and stratified according to type of mutation (R882, non-R882 missense, or truncation). Results DNMT3A mutations (DNMT3AMUT) were identified in 272 patients (30%) and associated with a poorer prognosis than wild-type DNMT3A, but the difference wa

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Chou, Wen-Chien, Sheng-Chieh Chou, Chieh-Yu Liu, et al. "TET2 mutation is an unfavorable prognostic factor in acute myeloid leukemia patients with intermediate-risk cytogenetics." Blood 118, no. 14 (2011): 3803–10. http://dx.doi.org/10.1182/blood-2011-02-339747.

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Abstract The studies concerning clinical implications of TET2 mutation in patients with primary acute myeloid leukemia (AML) are scarce. We analyzed TET2 mutation in 486 adult patients with primary AML. TET2 mutation occurred in 13.2% of our patients and was closely associated with older age, higher white blood cell and blast counts, lower platelet numbers, normal karyotype, intermediate-risk cytogenetics, isolated trisomy 8, NPM1 mutation, and ASXL1 mutation but mutually exclusive with IDH mutation. TET2 mutation is an unfavorable prognostic factor in patients with intermediate-risk cytogenet

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Kim, Yeo-Kyeoung, Il-Kwon Lee, Dennis Dong Hwan Kim, et al. "NPM1, IDH1/2 and DNAH11 Gene Mutations Can Improve a Prognostic Stratification of Acute Myeloid Leukemia Patients with Normal Karyotype but Not Harboring FLT3/ITD Mutation." Blood 120, no. 21 (2012): 2534. http://dx.doi.org/10.1182/blood.v120.21.2534.2534.

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Abstract Abstract 2534 Background: Acute myeloid leukemia with normal karyotype (AML-NK) is known to be heterogeneous in the molecular level. Accordingly, it has become more critical to dissect this group of patients according to their prognosis using a molecular genetic technology. We attempted to analyze the incidence and prognostic implication of genetic abnormalities on survival in 426 adult patients with AML-NK. Methods: A total of 67 AML-NK patients achieved complete remission (CR), candidate mutations in 21 genes were identified by whole exome sequencing which has 41–89× coverage and by

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Renneville, Aline, Florence Pasquier, Selim Corm, et al. "Evaluation of Minimal Residual Disease Based on NPM1 Mutations in AML with Intermediate Risk Cytogenetics: A Prospective Study of 36 Patients." Blood 110, no. 11 (2007): 2847. http://dx.doi.org/10.1182/blood.v110.11.2847.2847.

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Abstract Mutations in exon 12 of the nucleophosmin (NPM1) gene occur in approximately 50% of adult acute myeloid leukemia (AML) with normal karyotype. More than 40 mutant variants have been identified. Most of these mutations consist of a 4-bp insertion, which can be used as a target for minimal residual disease (MRD) monitoring. We previously checked the stability of NPM1 mutations at relapse in 21 NPM1-mutated patients at initial diagnosis. In this prospective study, we evaluated MRD by real-time quantitative PCR (RQ-PCR) in 36 NPM1-mutated AML patients corresponding to 33 adult and 3 pediat

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Yun, Jiwon, Jung-Ah Kim, Byungjin Hwang, et al. "Triple-Negative Myeloproliferative Neoplasms Vs. Calr, JAK2 or MPL-Mutated Myeloproliferative Neoplasms: Distinct Molecular Characteristics." Blood 132, Supplement 1 (2018): 1772. http://dx.doi.org/10.1182/blood-2018-99-118013.

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Abstract Background: We compared the clinical, cytogenetic, molecular features, and telomere lengths of patients with triple negative MPN and MPN with any of CALR, JAK2 or MPL mutations. Methods: Target capture sequencing of 87 genes and molecular cytogenetic studies were performed in 61 Korean patients with MPN. Also, we searched the newly reported mutations and novel mutations in triple negative MPN [JAK2-G335D (germline), JAK2-F556V, JAK2-G571S (germline), JAK2-V625F (germline), MPL-T119I, MPL-S204F/P, MPL-E230G, MPL-V285E (germline), MPL-R321W (germline), MPL-Y591D, MPL-S505N and MPL-W515R

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