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Journal articles on the topic 'CML, NGS, aCML, SETBP1'

Author: Grafiati

Published: 9 March 2023

Last updated: 31 July 2025

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1

Niro, Antonio, Rocco Piazza, Gabriele Merati, et al. "ETNK1 Is an Early Event and SETBP1 a Late Event in Atypical Chronic Myeloid Leukemia." Blood 126, no. 23 (2015): 3652. http://dx.doi.org/10.1182/blood.v126.23.3652.3652.

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Abstract Atypical Chronic Myeloid Leukemia (aCML) is a clonal disorder belonging to the myelodisplastic-myeloproliferative neoplasms, according to the WHO-2008 classification. From a clinical point of view it closely resembles the classical Chronic Myeloid Leukemia (CML), however it lacks the presence of the Philadelphia chromosome and of the BCR-ABL1 fusion gene. In recent works, we and others characterized the somatic lesions present in the aCML genome, mainly by using Next Generation Sequencing (NGS) technologies, demonstrating the presence of a large set of recurrent somatic mutations invo

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2

Kirschner, Martin MJ, Mirle Schemionek, Matthias Begemann, et al. "Elucidation of Additional Mutations By Next-Generation Sequencing Is of Clinical Significance in Patients with Rare MPNs and MDS/MPN Overlap Syndromes." Blood 128, no. 22 (2016): 4260. http://dx.doi.org/10.1182/blood.v128.22.4260.4260.

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Abstract Introduction: Recently, next-generation sequencing (NGS) has revolutionized the molecular characterization and understanding of several hematologic entities, including myeloproliferative neoplasms (MPN) and myelodysplastic syndrome (MDS)/MPN overlap syndromes. Nevertheless, the frequency and clinical impact of the mutations detected by NGS, remain largely unclear, especially in rare MPN which were analyzed in this study. Methods: Thus, we established a novel amplicon-based NGS panel, comprising genes that are known to be recurrently mutated in MPN and/or MDS/MPN. Hot spot regions or a

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Piazza, Rocco, Sara Redaelli, Simona Valletta, et al. "SETBP1 and CSF3R Mutations In Atypical Chronic Myeloid Leukemia." Blood 122, no. 21 (2013): 2598. http://dx.doi.org/10.1182/blood.v122.21.2598.2598.

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Abstract Atypical Chronic Myeloid Leukemia (aCML) is a clonal disorder belonging to the group of myelodysplastic/myeloproliferative (MDS/MPN) syndromes. In aCML many clinical features suggest the diagnosis of CML, however the lack of the BCR-ABL1 fusion point to a different pathogenetic process. Recently, we identified the presence of clonal somatic mutations occurring in the SETBP1 gene in approximately 25% of aCML samples (Piazza R. et al., Nat Genet. 2013 Jan;45(1):18-24). A subsequent study (Maxson J. et al., N Engl J Med. 2013 May 9;368(19):1781-90) demonstrated the presence of somatic mu

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4

Breccia, Massimo. "Atypical CML: diagnosis and treatment." Hematology 2023, no. 1 (2023): 476–82. http://dx.doi.org/10.1182/hematology.2023000448.

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Abstract Atypical chronic myeloid leukemia (aCML) is included in the group of myelodysplastic/myeloproliferative neoplasms by the International Consensus Classification and has been renamed as MDS/MPN with neutrophilia by the fifth edition of World Health Organization classification. It is always characterized by morphologic identification of granulocytic dysplasia with &gt;10% circulating immature myeloid cells, 2 distinguished features that differentiate this disease among the others. Somatic mutations may help to diagnose but are not specifically pathognomonic of the disease, with the m

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Gambacorti-Passerini, Carlo, Simona Valletta, Nils Winkelmann, et al. "Recurrent SETBP1 Mutations in Atypical Chronic Myeloid Leukemia Abrogate an Ubiquitination Site and Dysregulate SETBP1 Protein Levels." Blood 120, no. 21 (2012): LBA—2—LBA—2. http://dx.doi.org/10.1182/blood.v120.21.lba-2.lba-2.

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Abstract Abstract LBA-2 The SETBP1 gene codes for a predominantly nuclear protein with a predicted MW of 170 kD. Germline mutations of SETBP1 were described in patients affected by the Schinzel-Giedion syndrome (SGS), a rare disease characterized by bone, muscle and cardiac abnormalities, and presenting neuroepithelial neoplasms. In an effort to investigate the molecular pathogenesis of myeloid malignancies we applied a HTS strategy, including both exome sequencing and RNA-SEQ, to atypical Chronic Myeloid Leukemia (aCML), as defined by WHO criteria, with the aim of identifying novel recurrent

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Meggendorfer, Manja, Tamara Alpermann, Torsten Haferlach, et al. "Mutational Screening Of CSF3R, ASXL1, SETBP1, and SRSF2 In Chronic Neutrophilic Leukemia (CNL), Atypical CML and CMML Cases." Blood 122, no. 21 (2013): 105. http://dx.doi.org/10.1182/blood.v122.21.105.105.

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Abstract Introduction Chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML) are rare myeloproliferative and myelodysplastic/myeloproliferative neoplasms. So far, the diagnosis of CNL and aCML has been based on cytomorphology and the absence of JAK2V617F and PDGFR rearrangements. Recently, mutations in CSF3R and SETBP1 were identified and associated with CNL and aCML, respectively. Chronic myelomonocytic leukemia (CMML) and aCML also share several characteristics and need to be discriminated especially by the absolute number of monocytes in the peripheral blood. Aim T

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7

Dao, Kim-Hien T., and Jeffrey W. Tyner. "What's different about atypical CML and chronic neutrophilic leukemia?" Hematology 2015, no. 1 (2015): 264–71. http://dx.doi.org/10.1182/asheducation-2015.1.264.

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Abstract Atypical chronic myeloid leukemia (aCML) and chronic neutrophilic leukemia (CNL) are rare myeloid neoplasms defined largely by morphologic criteria. The discovery of CSF3R mutations in aCML and CNL have prompted a more comprehensive genetic profiling of these disorders. These studies have revealed aCML to be a genetically more heterogeneous disease than CNL, however, several groups have reported that SETBP1 and ASXL1 mutations occur at a high frequency and carry prognostic value in both diseases. We also report a novel finding—our study reveals a high frequency of U2AF1 mutations at c

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8

Redaelli, Sara, Rocco Piazza, Alessandra Pirola, et al. "Recurrent KIT D816V Mutation in Atypical Chronic Myeloid Leukemia." Blood 124, no. 21 (2014): 3576. http://dx.doi.org/10.1182/blood.v124.21.3576.3576.

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Abstract INTRODUCTION: Atypical Chronic Myeloid Leukemia (aCML) is a heterogeneous disorder belonging to the group of myelodysplastic/myeloproliferative syndromes, characterized by a poor prognosis with a median survival time of 37 months. In 2013, by applying Next Generation Sequencing (NGS) technologies on 8 aCML cases, we demonstrated the presence of a recurrent somatic mutations in the SETBP1 gene (Piazza et al, Nat Gen 2013). SETBP1 mutations were identified in approximately 30% of aCML cases. AIM: To further characterize the molecular pathogenesis of aCML and to possibly identify other r

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9

Meggendorfer, Manja, Wencke Walter, Stephan Hutter, Wolfgang Kern, Claudia Haferlach, and Torsten Haferlach. "FOS Expression Distinguishes Two Groups of Atypical CML (aCML) Allowing Targeted Therapy." Blood 132, Supplement 1 (2018): 3893. http://dx.doi.org/10.1182/blood-2018-99-111832.

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Abstract BCR-ABL1 negative myeloproliferative neoplasms not only include atypical chronic myeloid leukemia (aCML), but also chronic myelomonocytic leukemia (CMML), chronic neutrophilic leukemia (CNL), and myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN, U). Despite the recent advances in characterizing aCML more specifically, based on next generation sequencing data, the differential diagnosis and subsequent treatment decisions remain difficult. Therefore, we analyzed the transcriptome and performed whole genome sequencing (WGS) in a cohort of morphologically defined 231 p

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10

Kloos, Arnold, Felicitas Thol, Sabrina Klesse, et al. "Patient Derived Xenotransplantation Model of Atypical Chronic Myeloid Leukemia (aCML)." Blood 126, no. 23 (2015): 2836. http://dx.doi.org/10.1182/blood.v126.23.2836.2836.

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Abstract Background: Atypical chronic myeloid leukemia (aCML) is a rare disorder classified as one of the MPN/MDS overlap syndromes. aCML usually presents like CML but lacks the pathognomonic BCR-ABL fusion found in CML. Most patients progress to acute myeloid leukemia (AML) with a median time to AML of 11.2 months and have a median overall survival of only 12.4 months (Wang et al. Blood 2014). Recurrently mutated genes found in aCML patients include SETBP1 , CSF3R, NRAS, EZH2, ASXL1, ETNK1, and U2AF1. The pathogenesis of aCML is poorly understood and neither specific nor effective treatments

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11

Meggendorfer, Manja, Tamara Alpermann, Claudia Haferlach, et al. "Myeloid Malignancies With Isochromosome 17q Harbor Frequently Mutations In ASXL1, SETBP1, and SRSF2 - This Distinct Genotype Presents With Various Morphological Phenotypes." Blood 122, no. 21 (2013): 1364. http://dx.doi.org/10.1182/blood.v122.21.1364.1364.

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Abstract Introduction The identification of mutations (mut) in SETBP1 recently shed light on a molecular marker in atypical chronic myeloid leukemia (aCML), a disease previously defined by exclusion criteria. SETBP1mut have been identified in different myeloid malignancies. We previously reported mutation frequencies in the range of 5-10% in MPN and MDS/MPN overlap, 32% in aCML, while we found SETBP1 less frequently mutated in AML (3%). SETBP1mut has been shown to associate with ASXL1, CBL and SRSF2 mutations, as well as the cytogenetic abnormalities -7 and i(17)(q10). Aim To investigate the m

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12

Shuvaev, Vasily, Karina Krutikova, Svetlana Menshakova, et al. "Atypical Chronic Myeloid Leukemia Challenge in Russian Hematology Practice." Blood 132, Supplement 1 (2018): 5483. http://dx.doi.org/10.1182/blood-2018-99-114885.

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Abstract Background. The Atypical Chronic Myeloid Leukemia (aCML) and Chronic Neutrophilic Leukemia (CNL) had put in separate sections of myeloid neoplasms classification but have common entity and bone marrow changes. aCML and CNL hard to differentiate from each other. The main differential criterion is the proportion of immature white blood cells in blood, but it is not strong due to its instability. The achievement of recent years is discovering of aCML and CNL molecular factors: mutations in SETBP1 and CSFR3R genes gave the basis for the diagnosis confirmation in part of patients but could

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13

Difilippo, Emma, Giacomo Coltro, Ryan M. Carr, et al. "Spectrum of Abnormalities and Clonal Transformation in Germline RUNX1 Familial Platelet Disorder and a Comparative Analysis with Somatic RUNX1 Mutations in Myeloid Neoplasms." Blood 134, Supplement_1 (2019): 3003. http://dx.doi.org/10.1182/blood-2019-124830.

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Introduction: Germline RUNX1 mutations/deletions result in a Familial Platelet Disorder with propensity to Myeloid Malignancy (FPDMM); an autosomal dominant condition characterized by thrombocytopenia, qualitative platelet defects, and myeloid clonal evolution (MDS and AML). The advent of next generation sequencing (NGS) has allowed detection of clonal cytopenias of unclear significance (CCUS) prior to bone marrow (BM) morphological changes. Somatic RUNX1 mutations (RUNX1MT) can be seen in myeloid malignances, including MDS/MPN overlap syndromes, with an indeterminate prognostic impact. We car

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14

Karantanos, Theodoros, Hua-Ling Tsai, Mark Levis, Ravi Varadhan, Richard J. Jones, and Tania Jain. "The Presence of SETBP1, RUNX1 or EZH2 Mutation in MDS/MPN Is Associated with Absence of Response to Hypo-Methylating Agents." Blood 138, Supplement 1 (2021): 1520. http://dx.doi.org/10.1182/blood-2021-151624.

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Abstract INTRODUCTION: The management of myelodysplastic syndrome/myeloproliferative overlap neoplasms (MDS/MPN) remains challenging due to their molecular complexity. Hypo-methylating agents (HMA) have been used for cytoreduction and preparation of patients for allogeneic blood or marrow transplantation (BMT). However, less than 50% patients have a meaningful response to HMA and predictive factors for response remain unknown. The aim of our study is to examine molecular predictors of response to HMA in patients with MDS/MPN. PATIENTS AND METHODS: We performed a retrospective analysis of 150 p

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Julien, Vaidie, Delphine Rea, Sylvain Thepot, et al. "Current Treatments Do Not Improve the Prognosis of Patients with Atypical CML and Unclassified MDS/MPN. a Joint Report from Fi-LMC, FIM, Gfch and GFM." Blood 134, Supplement_1 (2019): 2954. http://dx.doi.org/10.1182/blood-2019-127254.

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Background Atypical CML (aCML) is a rare myeloid neoplasm with molecular heterogeneity and overlapping features of MDS and MPN. Distinction from unclassified MDS/MPNu based on WHO criteria remains difficult, and the management of these closely related entities remains ill-codified. Most patients (pts) are managed with cytoreductive agents, but small series have reported responses to hypomethylating agents or tyrosine kinase inhibitors (TKI), notably ruxolitinib. Allogeneic stem cell transplantation (SCT) is considered the only curative option. To instruct clinical trials with novel agents in t

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16

Stengel, Anna, Constance Baer, Wencke Walter, et al. "Mutational Patterns and Correlation to Chip-Related Mutations in Hematological Malignancies - a Study on Mutation Frequencies of 122 Genes in 28 Entities Including 3096 Cases." Blood 136, Supplement 1 (2020): 37–38. http://dx.doi.org/10.1182/blood-2020-136288.

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Background: Acquired somatic mutations are crucial for the development of the majority of cancers. In hematological malignancies, some molecular mutations are very specific for certain entities (e.g. BRAF in HCL, MYD88 in LPL), while others were detected in a variety of malignancies (e.g. mutations in TP53, TET2, DNMT3A, RUNX1). Moreover, mutations in genes related to CHIP (clonal haematopoiesis of indeterminate potential; ASXL1, TET2,DNMT3A) were detected in an age-related manner. Aim: (1) Analysis/comparison of mutation frequencies of 122 selected genes in 3096 cases with 28 different hemato

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Montalban Bravo, Guillermo, Rashmi Kanagal-Shamanna, Koji Sasaki, et al. "Clinicopathologic Correlates and Natural History of Atypical Chronic Myeloid Leukemia." Blood 136, Supplement 1 (2020): 54–56. http://dx.doi.org/10.1182/blood-2020-137176.

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INTRODUCTION: Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) associated with shorter survival and higher risk of transformation to acute myeloid leukemia (AML) than other MDS/MPNs. However, the clonal mechanisms underlying transformation to leukemia remain unclear. There is a need to develop predictive models and identify the optimal therapeutic management of these pts. METHODS: We evaluated all consecutive pts with aCML treated at the University of Texas MD Anderson Cancer Center from 2005 to 2020. Whole bone marrow (BM) DN

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Zapata, Nidia Paulina, Lilian Gomez Abogado, Luis Castellanos Santiago, et al. "First Time Mexican Report of Next Gene Sequencing (NGS) Panel in Newly Diagnose Acute Myeloid Leukemia (AML). Series of Cases." Blood 142, Supplement 1 (2023): 6024. http://dx.doi.org/10.1182/blood-2023-191076.

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Background: Acute Myeloid Leukemia a heterogeneous disease. Molecular alterations were described since 2010, and the combination of them have led to predict a better prognosis in the myeloid leukemia patients. NGS is a technique developed to identified these mutations and panels for each disease are being use. The cost and the equipment were unavailable for a lot of countries and institutions, but the need of these studies world wide have led to reduce the cost of the procedures leading to availability for better classification and treatment of patient with these disease. Methods: We perform t

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Castaño-Díez, Sandra, Monica Lopez-Guerra, Francesca Guijarro, et al. "Emergence ofNPM1Wild-Type Myeloid Neoplasms after Chemotherapy for Acute Leukemia withNPM1Mutation: Proposed Mechanisms of Clonal Evolution." Blood 136, Supplement 1 (2020): 39–40. http://dx.doi.org/10.1182/blood-2020-142740.

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Introduction NPM1mutation is considered a founder genetic event of acute myeloid leukemia withNPM1mutation (NPM1mut-AML). Nonetheless, growing evidence of pre-existing genetic mutations and clonal hematopoiesis (clonal response) after intensive AML treatment in many patients is being generated, although the precise clinical impact of this genetic background is mostly unknown. Thus, the emergence of a wild-typeNPM1myeloid neoplasm (NPM1wt-MN) after intensive chemotherapy treatment forNPM1mut-AML is a well-known phenomenon, but poorly described in long-term follow-up. Sequential genetic analysis

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Albitar, Maher, Hong Zhang, Andrew L. Pecora, et al. "Reliability of Liquid Biopsy and Next Generation Sequencing in Monitoring Residual Disease Post-Hematopoietic Stem Cell Transplant." Blood 138, Supplement 1 (2021): 1828. http://dx.doi.org/10.1182/blood-2021-147414.

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Abstract Introduction: Using next generation sequencing (NGS) in monitoring residual disease in patients with myeloid neoplasms is complicated by the significant heterogeneity in these diseases and the frequent presence of CHIP (clonal hematopoiesis of indeterminate potential) in patients with hematologic neoplasms on which these neoplasms arise. This is particularly relevant post hematopoietic stem cell transplant (HSCT). We explored the ability of using plasma cell-free DNA (cfDNA) in monitoring patients after HSCT and evaluated the potential of using liquid biopsy as a replacement for bone

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21

Chen, Suning, Nana Ping, Jia Yin, et al. "Exome Sequencing Identifies Highly Recurrent Somatic GATA2 and CEBPA Mutations in Acute Erythroid Leukemia." Blood 126, no. 23 (2015): 1394. http://dx.doi.org/10.1182/blood.v126.23.1394.1394.

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Abstract Acute erythroid leukemia (AEL) is a distinct subtype of acute myeloid leukemia (AML) characterized by predominant erythropoiesis. Currently, only few studies using next-generation sequencing were reported in AEL. To decipher the somatic mutation spectrum and discover disease-driving genes responsible for the pathogenesis of AEL, we performed whole exome-sequencing (WES) in 6 AEL and validating using targeted next generation sequencing (NGS) and Sanger sequencing in 58 AEL. From August 2003 to October 2014, a total of 158 patients fulfilling the WHO criteria for AEL were identified, co

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22

Dulucq, Stephanie, Frédéric Bauduer, Jean-Michel Cayuela, et al. "Onset of Blast Crises in CML Patients in Treatment-Free Remission: Descriptive Analysis of 4 Cases." Blood 138, Supplement 1 (2021): 2556. http://dx.doi.org/10.1182/blood-2021-149986.

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Abstract Aims: The onset of blast crisis (BC) in initially chronic phase (CP) CML patients that entered treatment-free remission (TFR) after TKI is an exceptional event, however, there is emerging evidence that this may occur in such patients (pts), although the pathogenesis remains unclear to date. Methods: Anonymous clinical case retrospective data collection from patients' datafiles, after written agreement of living patients, centralisation of available frozen nucleic acid collection from diagnosis and from blast crisis and reanalysis by Next-Generation Sequencing of samples (ASXL1, ASXL2,

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23

Schnittger, Susanne, Claudia Haferlach, Niroshan Nadarajah, et al. "CML Patients with Resistance to Tyrosine Kinase Inhibitors and without BCR-ABL1 Resistance Mutation Frequently Carry Other Gene Mutations." Blood 124, no. 21 (2014): 4516. http://dx.doi.org/10.1182/blood.v124.21.4516.4516.

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Abstract Background: In a subset of CML patients treated with tyrosine kinase inhibitors (TKI) primary or secondary resistance has been observed. Depending on disease state and treatment, in around 30-90% of these cases secondary mutations in the ABL1 part of the BCR-ABL1 fusion gene have been described which became clear indicators for change of therapy. In addition, also cytogenetic evolution is correlated to TKI resistance. However, in a high percentage of cases the reason for TKI resistance remains unclear, yet. Aim: We hypothesized that mutations in genes frequently involved in myeloid ma

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24

Szuber, Natasha, Attilio Orazi, and Ayalew Tefferi. "Chronic neutrophilic leukemia and atypical chronic myeloid leukemia: 2024 update on diagnosis, genetics, risk stratification, and management." American Journal of Hematology, April 21, 2024. http://dx.doi.org/10.1002/ajh.27321.

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AbstractChronic neutrophilic leukemia (CNL) is a rare BCR::ABL1‐negative myeloproliferative neoplasm (MPN) defined by persistent mature neutrophilic leukocytosis and bone marrow granulocyte hyperplasia. Atypical chronic myeloid leukemia (aCML) (myelodysplastic “[MDS]/MPN with neutrophilia” per World Health Organization [WHO]) is a MDS/MPN overlap disorder featuring dysplastic neutrophilia and circulating myeloid precursors. Both manifest with frequent hepatosplenomegaly and less commonly, bleeding, with high rates of leukemic transformation and death. The 2022 revised WHO classification conser

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