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https://www.readbyqxmd.com/read/29686565/chronic-neutrophilic-leukemia
#1
Arthur Bredeweg, Micah Burch, John R Krause
Chronic neutrophilic leukemia is a rare myeloproliferative disorder characterized by a sustained peripheral blood neutrophilia, absence of the BCR/ABL oncoprotein, bone marrow hypercellularity with less than 5% myeloblasts and normal neutrophil maturation, and no dysplasia. This leukemia has been associated with mutations in the colony-stimulating factor 3 receptor (CSF3R) that may activate this receptor, leading to the proliferation of neutrophils that are the hallmark of chronic neutrophilic leukemia. We present a case of chronic neutrophilic leukemia and discuss the criteria for diagnosis and the significance of mutations found in this leukemia...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29676020/chronic-neutrophilic-leukemia-an-extremely-rare-cause-of-neutrophilia-in-childhood-cure-with-hematopoietic-stem-cell-transplantation
#2
Vedat Uygun, Hayriye Daloğlu, Seda Öztürkmen, Gülsün Karasu, Zekai Avcı, Akif Yeşilipek
CNL is a rare myeloproliferative disorder frequently seen in older adults. A significant proportion of patients show progression to AML. Here, we report the case of a patient with FA who was monitored for leukopenia but who developed leukocytosis during the follow-up and was diagnosed with CNL probably after an acquired CSF3R mutation. Because the patient had FA, which could accelerate the progression to AML, an HSCT was performed, which resulted in cure. This patient (aged 12 years) is one of the youngest patients reported to develop CNL as well as the first FA patient with a diagnosis of CNL...
April 19, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29587671/coexisting-of-bone-marrow-fibrosis-dysplasia-and-an-x-chromosomal-abnormality-in-chronic-neutrophilic-leukemia-with-csf3r-mutation-a-case-report-and-literature-review
#3
Xue Bin Wu, Wei Wei Wu, Yue Zhou, Xuan Wang, Jia Li, Yang Yu
BACKGROUND: Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) with less than 40 cases of patients being reported or clinically suspected meeting with 2008 World Health Organization ("WHO") diagnostic criteria. The current diagnosis of CNL remains to exclude other diseases. Recently, a new biomarker of CSF3R mutations that is almost invariably present in CNL has been identified. There is no effective treatment for CNL, therefore prognosis of the disease is poor, but it may be attributed to the presence of both SETBP1 and CSF3R gene mutations...
March 27, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29572350/gain-of-function-mutations-in-granulocyte-colony-stimulating-factor-receptor-csf3r-reveal-distinct-mechanisms-of-csf3r-activation
#4
Haijiao Zhang, Cody Coblentz, Kevin Watanabe-Smith, Sophie Means, Jasmine Means, Julia E Maxson, Jeffrey W Tyner
Granulocyte colony-stimulating factor (G-CSF or CSF3) and its receptor CSF3R regulate granulopoiesis, neutrophil function, and hematopoietic stem cell mobilization. Recent studies have uncovered an oncogenic role of mutations in the CSF3R gene in many hematologic malignancies. To find additional CSF3R mutations that give rise to cell transformation, we performed a cellular transformation assay in which murine interleukin 3 (IL-3)-dependent Ba/F3 cells were transduced with wildtype CSF3R plasmid and screened for spontaneous growth in the absence of IL-3...
March 23, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29572239/identification-of-novel-mecom-gene-fusion-and-personalized-therapeutic-targets-through-integrative-clinical-sequencing-in-secondary-acute-myeloid-leukemia-in-a-patient-with-severe-congenital-neutropenia-a-case-report-and-literature-review
#5
James A Connelly, Rajen J Mody, Yi-Mi Wu, Dan R Robinson, Robert J Lonigro, Pankaj Vats, Erica Rabban, Bailey Anderson, Kelly Walkovich
Severe congenital neutropenia (SCN) is a rare hematologic disorder characterized by defective myelopoiesis and a high incidence of malignant transformation to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). SCN patients who develop MDS/AML have excessive toxicities to traditional chemotherapy and safer therapies are needed to improve overall survival in this population. In this report, we outline the use of a prospective integrative clinical sequencing trial (PEDS-MIONCOSEQ) in a patient with SCN and AML to help identify oncogenic targets for less toxic agents...
March 23, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29512199/chronic-neutrophilic-leukemia-2018-update-on-diagnosis-molecular-genetics-and-management
#6
Michelle A Elliott, Ayalew Tefferi
DISEASE OVERVIEW AND DIAGNOSIS: Chronic neutrophilic leukemia (CNL) is a potentially aggressive myeloproliferative neoplasm, for which current WHO diagnostic criteria include leukocytosis of ≥ 25 x 109 /L of which ≥ 80% are neutrophils, with < 10% circulating neutrophil precursors with blasts rarely observed. In addition, there is no dysplasia, nor clinical or molecular criteria for other myeloproliferative neoplasms. UPDATE ON DIAGNOSIS: Previously the diagnosis of CNL was often as one of exclusion based on no identifiable cause for physiologic neutrophilia in patients fulfilling the aforementioned criteria...
August 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29440636/chronic-neutrophilic-leukemia-new-science-and-new-diagnostic-criteria
#7
REVIEW
Natasha Szuber, Ayalew Tefferi
Chronic neutrophilic leukemia (CNL) is a distinct myeloproliferative neoplasm defined by persistent, predominantly mature neutrophil proliferation, marrow granulocyte hyperplasia, and frequent splenomegaly. The seminal discovery of oncogenic driver mutations in CSF3R in the majority of patients with CNL in 2013 generated a new scientific framework for this disease as it deepened our understanding of its molecular pathogenesis, provided a biomarker for diagnosis, and rationalized management using novel targeted therapies...
February 13, 2018: Blood Cancer Journal
https://www.readbyqxmd.com/read/29199511/clonogenic-versus-morphogenic-mutations-in-myeloid-neoplasms-chronologic-observations-in-a-u2af1-tet2-csf3r-and-jak2-co-mutated-myeloproliferative-neoplasm-suggest-a-hierarchical-order-of-mutations-and-potential-predictive-value-for-kinase-inhibitor-treatment
#8
Magdalena M Gerlach, Pontus Lundberg, Joerg Halter, Christian Arranto, Friedel Wenzel, Stefan Dirnhofer, Alexandar Tzankov
No abstract text is available yet for this article.
December 3, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29146882/physiological-srsf2-p95h-expression-causes-impaired-hematopoietic-stem-cell-functions-and-aberrant-rna-splicing-in-mice
#9
Ayana Kon, Satoshi Yamazaki, Yasuhito Nannya, Keisuke Kataoka, Yasunori Ota, Masahiro Marshall Nakagawa, Kenichi Yoshida, Yusuke Shiozawa, Maiko Morita, Tetsuichi Yoshizato, Masashi Sanada, Manabu Nakayama, Haruhiko Koseki, Hiromitsu Nakauchi, Seishi Ogawa
Splicing factor mutations are characteristic of myelodysplastic syndromes (MDS) and related myeloid neoplasms and implicated in their pathogenesis, but their roles in the development of MDS have not been fully elucidated. In the present study, we investigated the consequence of mutant Srsf2 expression using newly generated Vav1-Cre -mediated conditional knockin mice. Mice carrying a heterozygous Srsf2 P95H mutation showed significantly reduced numbers of hematopoietic stem and progenitor cells (HSPCs) and differentiation defects both in the steady-state condition and transplantation settings...
February 8, 2018: Blood
https://www.readbyqxmd.com/read/29092827/somatic-mutations-and-clonal-hematopoiesis-in-congenital-neutropenia
#10
Jun Xia, Christopher A Miller, Jack Baty, Amrita Ramesh, Matthew R M Jotte, Robert S Fulton, Tiphanie P Vogel, Megan A Cooper, Kelly J Walkovich, Vahagn Makaryan, Audrey A Bolyard, Mary C Dinauer, David B Wilson, Adrianna Vlachos, Kasiani C Myers, Robert J Rothbaum, Alison A Bertuch, David C Dale, Akiko Shimamura, Laurence A Boxer, Daniel C Link
Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation. Hematopoietic stressors may contribute to leukemic transformation by increasing the mutation rate in hematopoietic stem/progenitor cells (HSPCs) and/or by promoting clonal hematopoiesis. We sequenced the exome of individual hematopoietic colonies derived from 13 patients with congenital neutropenia to measure total mutation burden and performed error-corrected sequencing on a panel of 46 genes on 80 patients with congenital neutropenia to assess for clonal hematopoiesis...
January 25, 2018: Blood
https://www.readbyqxmd.com/read/29070147/-gene-mutation-and-acute-leukemia-transformation-of-severe-congenital-neutropenia-review
#11
Zuo-Hua Chi, Ping Zhu
Severe congenital neutropenia (SCN) is a rare disease of bone marrow failure. Absolute value of peripheral blood neutrophil of SCN significantly reduced. SCN has a high risk of transformation to myelodysplastic syndromes (MDS) / acute myeloid leukemia (AML). At present, there are 14 abnormal genes related to SCN, ELANE is the most common pathogenic gene, the main therapy of SCN is the application of granulocyte colony stimulating factor (G-CSF). CSF3R gene mutation often occurs in the treatment process, and can lead to acute myeloid leukemia...
October 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29025591/identification-of-a-novel-csf3r-sptan1-fusion-gene-in-an-atypical-chronic-myeloid-leukemia-patient-with-t-1-9-p34-q34-by-rna-seq
#12
Guangying Sheng, Jian Zhang, Zhao Zeng, Jinlan Pan, Qinrong Wang, Lijun Wen, Yang Xu, Depei Wu, Suning Chen
Membrane-proximal and truncated mutations of colony-stimulating factor 3 receptor (CSF3R) are frequently found in chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML). However, rearrangement involving CSF3R in hematological neoplasms has not been reported. Here, we report a case of a 21-year-old female diagnosed as aCML with t(1;9)(p34;q34) who presented a CSF3R rearrangement. First, RNA sequencing identified a novel fusion transcript involving exon 17 of CSF3R and exon 50 of non-erythrocytic-1-spectrin-alpha (SPTAN1)...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28983816/recent-progress-in-chronic-neutrophilic-leukemia-and-atypical-chronic-myeloid-leukemia
#13
REVIEW
Kim-Hien T Dao, Jeffrey W Tyner, Jason Gotlib
PURPOSE OF REVIEW: We reviewed recent diagnostic and therapeutic progress in chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML). We summarized recent genetic data that may guide future efforts towards implementing risk-adapted therapy based on mutational profile and improving disease control and survival of affected patients. RECENT FINDINGS: Recent genetic data in CNL and aCML prompted modifications to the World Health Organization (WHO) diagnostic criteria, which have improved our understanding of how CNL and aCML are different diseases despite sharing common findings of peripheral granulocytosis and marrow myeloid hyperplasia...
October 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28935846/a-t-1-9-translocation-involving-csf3r-as-a-novel-mechanism-in-unclassifiable-chronic-myeloproliferative-neoplasm
#14
LETTER
Jesús Gutiérrez-Abril, Iñigo Santamaría, Ana S Pitiot, Ana Gutiérrez-Fernández, Ángel Alvarez-Eguiluz, José M Vicente, Carmen Sanzo, Soledad González-Muñiz, Milagros Balbín, Xose S Puente
No abstract text is available yet for this article.
December 2017: Haematologica
https://www.readbyqxmd.com/read/28913558/only-setbp1-hotspot-mutations-are-associated-with-refractory-disease-in-myeloid-malignancies
#15
Nils Winkelmann, Vivien Schäfer, Jenny Rinke, Alexander Kaiser, Philipp Ernst, Sebastian Scholl, Andreas Hochhaus, Thomas Ernst
INTRODUCTION: SETBP1 mutations have been established as a diagnostic marker in myeloid malignancies and are associated with inferior survival. Since there is limited data on their clinical impact and stability during disease progression, we sought to investigate the relationship between SETBP1 mutations and disease evolution. METHODS: Bidirectional Sanger sequencing of the SETBP1 gene was performed for 442 unselected patients with World Health Organization (WHO) defined myeloid disorders...
December 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28875545/targeted-next-generation-sequencing-in-myelodysplastic-syndromes-and-prognostic-interaction-between-mutations-and-ipss-r
#16
Ayalew Tefferi, Terra L Lasho, Mrinal M Patnaik, Lyla Saeed, Mythri Mudireddy, Dame Idossa, Christy Finke, Rhett P Ketterling, Animesh Pardanani, Naseema Gangat
A 27-gene panel was used for next-generation sequencing (NGS) in 179 patients (median age 73 years) with primary myelodysplastic syndromes (MDS); risk distribution according to the revised International Prognostic Scoring System (IPSS-R) was 11% very high, 18% high, 17% intermediate, 38% low and 16% very low. At least one mutation/variant was detected in 147 (82%) patients; 23% harbored three or more mutations/variants. The most frequent mutations/variants included ASXL1 (30%), TET2 (25%), SF3B1 (20%), U2AF1 (16%), SRSF2 (16%), TP53 (13%), RUNX1 (11%), and DNMT3A (10%)...
December 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28762112/targeted-next-generation-sequencing-identifies-clinically-relevant-mutations-in-patients-with-chronic-neutrophilic-leukemia-at-diagnosis-and-blast-crisis
#17
S E Langabeer, K Haslam, J Kelly, J Quinn, R Morrell, E Conneally
PURPOSE: Chronic neutrophilic leukemia is a rare form of myeloproliferative neoplasm characterized by mature neutrophil hyperleukocytosis. The majority of patients harbor somatic mutations of CSF3R gene and are potentially amenable to targeted therapy with JAK inhibitors. The incidence and clinical significance of additional mutations requires clarification. MATERIALS AND METHODS: A next-generation sequencing approach for myeloid malignancy-associated mutations was applied to diagnostic and matched blast crisis samples from four chronic neutrophilic leukemia patients...
March 2018: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28652245/unpaired-extracellular-cysteine-mutations-of-csf3r-mediate-gain-or-loss-of-function
#18
Haijiao Zhang, Sophie Means, Anna Reister Schultz, Kevin Watanabe-Smith, Bruno C Medeiros, Daniel Bottomly, Beth Wilmot, Shannon K McWeeney, Tim Kükenshöner, Oliver Hantschel, Jeffrey W Tyner
Exclusive of membrane-proximal mutations seen commonly in chronic neutrophilic leukemia (e.g., T618I), functionally defective mutations in the extracellular domain of the G-CSF receptor (CSF3R) have been reported only in severe congenital and idiopathic neutropenia patients. Here, we describe the first activating mutation in the fibronectin-like type III domain of the extracellular region of CSF3R (W341C) in a leukemia patient. This mutation transformed cells via cysteine-mediated intermolecular disulfide bonds, leading to receptor dimerization...
August 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28593997/severe-congenital-neutropenias
#19
REVIEW
Julia Skokowa, David C Dale, Ivo P Touw, Cornelia Zeidler, Karl Welte
Severe congenital neutropenias are a heterogeneous group of rare haematological diseases characterized by impaired maturation of neutrophil granulocytes. Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beginning in their first months of life. The most frequent pathogenic defects are autosomal dominant mutations in ELANE, which encodes neutrophil elastase, and autosomal recessive mutations in HAX1, whose product contributes to the activation of the granulocyte colony-stimulating factor (G-CSF) signalling pathway...
June 8, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28565754/identification-of-potential-biomarkers-of-sepsis-using-bioinformatics-analysis
#20
Yu-Xia Yang, Li Li
Sepsis is defined as the systemic inflammatory response to infection and is one of the leading causes of mortality in critically ill patients. The goal of the present study is to elucidate the molecular mechanism of sepsis. Transcription profile data (GSE12624) were downloaded that had a total of 70 samples (36 sepsis samples and 34 non-sepsis samples) from the Gene Expression Omnibus database. Protein-protein interaction network analysis was conducted in order to comprehensively understand the interactions of genes in all samples...
May 2017: Experimental and Therapeutic Medicine
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