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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
#1
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...
July 31, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28652245/unpaired-extracellular-cysteine-mutations-of-csf3r-mediate-gain-or-loss-of-function
#2
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 granulocyte colony-stimulating factor 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...
June 26, 2017: Cancer Research
https://www.readbyqxmd.com/read/28593997/severe-congenital-neutropenias
#3
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
#4
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
https://www.readbyqxmd.com/read/28536315/-skeletal-muscle-stem-cell
#5
Shinsuke Yuasa
Adult skeletal muscle has its own stem cell population known as satellite cells. After muscle injury, quiescent satellite cells are activated and then proliferate and differentiate into mature skeletal muscle to ensure that muscle function is recovered. In our screen for myocyte differentiation-promoting factors, we noted markedly elevated expression of granulocyte-colony stimulating factor receptor(G-CSFR, encoded by csf3r)in the skeletal muscle developing area. Furthermore, G-CSFR was transiently expressed in regenerating myocytes of adult injured skeletal muscle, and extrinsic G-CSF supported short-term and long-term muscle regeneration in mouse model of skeletal muscle injury...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28439110/characterization-of-the-leukemogenic-potential-of-distal-cytoplasmic-csf3r-truncation-and-missense-mutations
#6
H Zhang, A R Schultz, S Luty, A Rofelty, Y Su, S Means, D Bottomly, B Wilmot, S K McWeeney, J W Tyner
An increasing number of variants of unknown significance (VUS) are being identified in leukemia patients with the application of deep sequencing and these include CSF3R cytoplasmic mutations. Previous studies have demonstrated oncogenic potential of certain CSF3R truncation mutations prior to internalization motifs. However, the oncogenic potential of truncating the more distal region of CSF3R cytoplasmic domain as well as cytoplasmic missense mutations remains uncharacterized. Here we identified that CSF3R distal cytoplasmic truncation mutations (Q793-Q823) also harbored leukemogenic potential...
April 25, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28320832/g-csf-receptor-blockade-ameliorates-arthritic-pain-and-disease
#7
Ming-Chin Lee, James A McCubbin, Anne D Christensen, Daniel P Poole, Pradeep Rajasekhar, TinaMarie Lieu, Nigel W Bunnett, Sonia Garcia-Caraballo, Andelain Erickson, Stuart M Brierley, Reem Saleh, Adrian Achuthan, Andrew J Fleetwood, Robin L Anderson, John A Hamilton, Andrew D Cook
G-CSF or CSF-3, originally defined as a regulator of granulocyte lineage development via its cell surface receptor (G-CSFR), can play a role in inflammation, and hence in many pathologies, due to its effects on mature lineage populations. Given this, and because pain is an extremely important arthritis symptom, the efficacy of an anti-G-CSFR mAb for arthritic pain and disease was compared with that of a neutrophil-depleting mAb, anti-Ly6G, in both adaptive and innate immune-mediated murine models. Pain and disease were ameliorated in Ag-induced arthritis, zymosan-induced arthritis, and methylated BSA/IL-1 arthritis by both prophylactic and therapeutic anti-G-CSFR mAb treatment, whereas only prophylactic anti-Ly6G mAb treatment was effective...
May 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28302714/ruxolitinib-a-potent-jak1-jak2-inhibitor-induces-temporary-reductions-in-the-allelic-burden-of-concurrent-csf3r-mutations-in-chronic-neutrophilic-leukemia
#8
LETTER
Arief S Gunawan, Donal P McLornan, Bridget Wilkins, Katherine Waghorn, Yvette Hoade, Nicholas C P Cross, Claire N Harrison
No abstract text is available yet for this article.
June 2017: Haematologica
https://www.readbyqxmd.com/read/28281657/a-gcsfr-csf3r-zebrafish-mutant-models-the-persistent-basal-neutrophil-deficiency-of-severe-congenital-neutropenia
#9
Vahid Pazhakh, Sharon Clark, M Cristina Keightley, Graham J Lieschke
Granulocyte colony-stimulating factor (GCSF) and its receptor (GCSFR), also known as CSF3 and CSF3R, are required to maintain normal neutrophil numbers during basal and emergency granulopoiesis in humans, mice and zebrafish. Previous studies identified two zebrafish CSF3 ligands and a single CSF3 receptor. Transient antisense morpholino oligonucleotide knockdown of both these ligands and receptor reduces neutrophil numbers in zebrafish embryos, a technique widely used to evaluate neutrophil contributions to models of infection, inflammation and regeneration...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28219221/-the-clinical-characteristics-gene-mutations-and-prognosis-of-chronic-neutrophilic-leukemia
#10
Y J Cui, Q Jiang, J Q Liu, B Li, Z F Xu, T J Qin, Y Zhang, W Y Cai, H L Zhang, L W Fang, L J Pan, N B Hu, S Q Qu, Z J Xiao
Objective: To investigate the clinical manifestation, cytogenetics, gene mutations and prognostic factors of chronic neutrophilic leukemia (CNL) . Methods: 16 CNL cases, according to WHO (2016) -definition, were reviewed retrospectively. Identifications of the CSF3R, ASXL1, SETBP1, CALR and MPL mutations were performed by direct sequencing. JAK2 V617F mutation was detected by AS-PCR. Results: Of the 16 CNL patients, the median age was 64 (43-80) years with a male predominance of 75% (12/16) . The median hemoglobin was 114 (81-154) g/L, with median WBC of 41...
January 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28209919/clinical-significance-of-csf3r-srsf2-and-setbp1-mutations-in-chronic-neutrophilic-leukemia-and-chronic-myelomonocytic-leukemia
#11
Yuan Ouyang, Chun Qiao, Yu Chen, Su-Jiang Zhang
Chronic neutrophilic leukemia (CNL) and chronic myelomonocytic leukemia (CMML) are rare hematologic neoplasms. We performed CSF3R, SRSF2 and SETBP1 mutational analyses in 10 CNL and 56 CMML patients. In this sample cohort, 80% of CNL patients harbored CSF3R mutations, of which the CSF3R T618I mutation was dominant. Mutations in CSF3R and SETBP1 were found in 7.1% and 5.3% CMML patients respectively, while 25% of CMML patients carried SRSF2 mutations. Strikingly, we identified that all of the CSF3R mutations detected in CMML patients were represented by a P733T mutation...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28209656/changes-in-allele-frequencies-of-csf3r-and-setbp1-mutations-and-evidence-of-clonal-evolution-in-a-chronic-neutrophilic-leukemia-patient-treated-with-ruxolitinib
#12
LETTER
Zohra Nooruddin, Nicholas Miltgen, Qi Wei, Jeffrey Schowinsky, Zengang Pan, Jennifer Tobin, Enkhtsetseg Purev, Jonathan A Gutman, William Robinson, Daniel A Pollyea
No abstract text is available yet for this article.
May 2017: Haematologica
https://www.readbyqxmd.com/read/28208123/analysis-of-acquired-mutations-in-transgenes-arising-in-ba-f3-transformation-assays-findings-and-recommendations
#13
Kevin Watanabe-Smith, Jamila Godil, Anupriya Agarwal, Cristina Tognon, Brian Druker
The identification and functional validation of potentially oncogenic mutations in leukemia is an essential step toward a future of personalized targeted therapy. To assess the oncogenic capacity of individual mutations, reliable and scalable in vitro experimental approaches are required. Since 1988, researchers have used the IL-3 dependent Ba/F3 transformation assay to validate the oncogenic potential of mutations to drive factor-independent growth. Here we report a previously unrecognized phenomenon whereby Ba/F3 cells, engineered to express weakly transforming mutations, present with additional acquired mutations in the expressed transgene following factor withdrawal...
February 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28073911/a-truncated-granulocyte-colony-stimulating-factor-receptor-g-csfr-inhibits-apoptosis-induced-by-neutrophil-elastase-g185r-mutant-implication-for-understanding-csf3r-gene-mutations-in-severe-congenital-neutropenia
#14
Yaling Qiu, Yangyang Zhang, Nan Hu, Fan Dong
Mutations in ELANE encoding neutrophil elastase (NE) have been identified in the majority of patients with severe congenital neutropenia (SCN). The NE mutants have been shown to activate unfolded protein response and induce premature apoptosis in myeloid cells. Patients with SCN are predisposed to acute myeloid leukemia (AML), and progression from SCN to AML is accompanied by mutations in CSF3R encoding the granulocyte colony-stimulating factor receptor (G-CSFR) in ∼80% of patients. The mutations result in the expression of C-terminally truncated G-CSFRs that promote strong cell proliferation and survival...
February 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28057676/maxson-je-ries-re-wang-y-c-et-al-csf3r-mutations-have-a-high-degree-of-overlap-with-cebpa-mutations-in-pediatric-aml-blood-2016-127-24-3094-3098
#15
(no author information available yet)
No abstract text is available yet for this article.
January 5, 2017: Blood
https://www.readbyqxmd.com/read/28031554/enhanced-mapk-signaling-is-essential-for-csf3r-induced-leukemia
#16
S Rohrabaugh, M Kesarwani, Z Kincaid, E Huber, J Leddonne, Z Siddiqui, Y Khalifa, K Komurov, H L Grimes, M Azam
Both membrane-proximal and truncation mutations in CSF3R have recently been reported to drive the onset of chronic neutrophilic leukemia (CNL). Here we show that although truncation mutation alone cannot induce leukemia, both proximal and compound mutations (proximal and truncation mutations on same allele) are leukemogenic with a disease latency of 90 and 23 days, respectively. Comparative whole-genome expression profiling and biochemical experiments revealed that induced expression of Mapk adaptor protein Ksr1 and enhanced Mapk signaling are crucial to leukemogenesis by CSF3R proximal and compound mutants...
August 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28028025/genomics-of-chronic-neutrophilic-leukemia
#17
REVIEW
Julia E Maxson, Jeffrey W Tyner
Chronic neutrophilic leukemia (CNL) is a distinct myeloproliferative neoplasm with a high prevalence (>80%) of mutations in the colony-stimulating factor 3 receptor (CSF3R). These mutations activate the receptor, leading to the proliferation of neutrophils that are a hallmark of CNL. Recently, the World Health Organization guidelines have been updated to include CSF3R mutations as part of the diagnostic criteria for CNL. Because of the high prevalence of CSF3R mutations in CNL, it is tempting to think of this disease as being solely driven by this genetic lesion...
February 9, 2017: Blood
https://www.readbyqxmd.com/read/27984087/genomic-and-genetic-studies-of-systemic-sclerosis-a-systematic-review
#18
REVIEW
Paraskevi Chairta, Paschalis Nicolaou, Kyproula Christodoulou
Systemic sclerosis is an autoimmune rheumatic disease characterised by fibrosis, vasculopathy and inflammation. The exact aetiology of SSc remains unknown but evidences show that various genetic factors may be involved. This review aimed to assess HLA alleles/non-HLA polymorphisms, microsatellites and chromosomal abnormalities that have thus far been associated with SSc. PubMed, Embase and Scopus databases were searched up to July 29, 2015 using a combination of search-terms. Articles retrieved were evaluated based on set exclusion and inclusion criteria...
February 2017: Human Immunology
https://www.readbyqxmd.com/read/27789332/granulocyte-colony-stimulating-factor-receptor-signaling-in-severe-congenital-neutropenia-chronic-neutrophilic-leukemia-and-related-malignancies
#19
REVIEW
Pankaj Dwivedi, Kenneth D Greis
Granulocyte colony-stimulating factor is a hematopoietic cytokine that stimulates neutrophil production and hematopoietic stem cell mobilization by initiating the dimerization of homodimeric granulocyte colony-stimulating factor receptor. Different mutations of CSF3R have been linked to a unique spectrum of myeloid disorders and related malignancies. Myeloid disorders caused by the CSF3R mutations include severe congenital neutropenia, chronic neutrophilic leukemia, and atypical chronic myeloid leukemia. In this review, we provide an analysis of granulocyte colony-stimulating factor receptor, various mutations, and their roles in the severe congenital neutropenia, chronic neutrophilic leukemia, and malignant transformation, as well as the clinical implications and some perspective on approaches that could expand our knowledge with respect to the normal signaling mechanisms and those associated with mutations in the receptor...
February 2017: Experimental Hematology
https://www.readbyqxmd.com/read/27716741/expression-of-calr-mutants-causes-mpl-dependent-thrombocytosis-in-zebrafish
#20
K-H Lim, Y-C Chang, Y-H Chiang, H-C Lin, C-Y Chang, C-S Lin, L Huang, W-T Wang, C Gon-Shen Chen, W-C Chou, Y-Y Kuo
CALR mutations are identified in about 30% of JAK2/MPL-unmutated myeloproliferative neoplasms (MPNs) including essential thrombocythemia (ET) and primary myelofibrosis. Although the molecular pathogenesis of CALR mutations leading to MPNs has been studied using in vitro cell lines models, how mutant CALR may affect developmental hematopoiesis remains unknown. Here we took advantage of the zebrafish model to examine the effects of mutant CALR on early hematopoiesis and model human CALR-mutated MPNs. We identified three zebrafish genes orthologous to human CALR, referred to as calr, calr3a and calr3b...
October 7, 2016: Blood Cancer Journal
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