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https://www.readbyqxmd.com/read/28220884/exploration-of-the-role-of-gene-mutations-in-myelodysplastic-syndromes-through-a-sequencing-design-involving-a-small-number-of-target-genes
#1
Feng Xu, Ling-Yun Wu, Qi He, Dong Wu, Zheng Zhang, Lu-Xi Song, You-Shan Zhao, Ji-Ying Su, Li-Yu Zhou, Juan Guo, Chun-Kang Chang, Xiao Li
Novel sequencing designs are necessary to supplement the recognized knowledge of myelodysplastic syndrome (MDS)-related genomic alterations. In this study, we sequenced 28 target genes in 320 Chinese MDS patients but obtained 77.2% of recall factors and 82.8% of genetic abnormalities (including karyotype abnormalities). In addition to known relationships among mutations, some specific chromosomal abnormalities were found to link to specific gene mutations. Trisomy 8 tended to be linked to U2AF1 and ZRSR2 mutations, and 20q- exhibited higher SRSF2/WT1 and U2AF1 mutation frequency...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28219221/-the-clinical-characteristics-gene-mutations-and-prognosis-of-chronic-neutrophilic-leukemia
#2
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
#3
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...
February 15, 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
#4
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.
February 16, 2017: Haematologica
https://www.readbyqxmd.com/read/28188970/refractory-anemia-with-ring-sideroblasts-rars-and-rars-with-thrombocytosis-rars-t-2017-update-on-diagnosis-risk-stratification-and-management
#5
Mrinal M Patnaik, Ayalew Tefferi
DISEASE OVERVIEW: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). DIAGNOSIS: MDS-RS is a lower risk MDS, with single or multilineage dysplasia (SLD/MLD), <5% bone marrow (BM) blasts and ≥15% BM RS (≥5% in the presence of SF3B1 mutations)...
March 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28158286/prognostic-significance-of-setbp1-mutations-in-myelodysplastic-syndromes-chronic-myelomonocytic-leukemia-and-chronic-neutrophilic-leukemia-a-meta-analysis
#6
Li-Hong Shou, Dan Cao, Xiao-Hui Dong, Qiu Fang, Ying Wu, Yan Zhang, Ju-Ping Fei, Bao-Lian Xu
OBJECTIVES: This meta-analysis investigates the prognostic effect of SET binding protein 1 (SETBP1) mutations in patients with myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML), or chronic neutrophilic leukemia (CNL). METHODS: Eligible studies from Pubmed, Embase, and Web of Science were searched from database inception through April 2016. Hazard ratios (HRs) and 95% confidence interval (CI) of overall survival (OS) were pooled to calculate the prognostic significance of SETBP1 mutation in patients...
2017: PloS One
https://www.readbyqxmd.com/read/28076841/clonal-evolution-in-therapy-related-neoplasms
#7
Emiliano Fabiani, Giulia Falconi, Luana Fianchi, Marianna Criscuolo, Tiziana Ottone, Laura Cicconi, Stefan Hohaus, Simona Sica, Massimiliano Postorino, Antonino Neri, Marta Lionetti, Giuseppe Leone, Francesco Lo-Coco, Maria Teresa Voso
Therapy-related myeloid neoplasms (t-MN) may occur as a late effect of cytotoxic therapy for a primary malignancy or autoimmune diseases in susceptible individuals. We studied the development of somatic mutations in t-MN, using a collection of follow-up samples from 14 patients with a primary hematologic malignancy, who developed a secondary leukemia (13 t-MN and 1 t-acute lymphoblastic leukemia), at a median latency of 73 months (range 18-108) from primary cancer diagnosis.Using Sanger and next generation sequencing (NGS) approaches we identified 8 mutations (IDH1 R132H, ASXL1 Y591*, ASXL1 S689*, ASXL1 R693*, SRSF2 P95H, SF3B1 K700E, SETBP1 G870R and TP53 Y220C) in seven of thirteen t-MN patients (54%), whereas the t-ALL patient had a t(4,11) translocation, resulting in the KMT2A/AFF1 fusion gene...
January 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28028025/genomics-of-chronic-neutrophilic-leukemia
#8
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/27877193/a-combined-linkage-and-exome-sequencing-analysis-for-electrocardiogram-parameters-in-the-erasmus-rucphen-family-study
#9
Claudia T Silva, Irina V Zorkoltseva, Najaf Amin, Ayşe Demirkan, Elisabeth M van Leeuwen, Jan A Kors, Marten van den Berg, Bruno H Stricker, André G Uitterlinden, Anatoly V Kirichenko, Jacqueline C M Witteman, Rob Willemsen, Ben A Oostra, Tatiana I Axenovich, Cornelia M van Duijn, Aaron Isaacs
Electrocardiogram (ECG) measurements play a key role in the diagnosis and prediction of cardiac arrhythmias and sudden cardiac death. ECG parameters, such as the PR, QRS, and QT intervals, are known to be heritable and genome-wide association studies of these phenotypes have been successful in identifying common variants; however, a large proportion of the genetic variability of these traits remains to be elucidated. The aim of this study was to discover loci potentially harboring rare variants utilizing variance component linkage analysis in 1547 individuals from a large family-based study, the Erasmus Rucphen Family Study (ERF)...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27863435/myb-expression-is-critical-for-myeloid-leukemia-development-induced-by-setbp1-activation
#10
Nhu Nguyen, Bandana A Vishwakarma, Kevin Oakley, Yufen Han, Bartlomiej Przychodzen, Jaroslaw P Maciejewski, Yang Du
SETBP1 missense mutations have been frequently identified in multiple myeloid neoplasms; however, their oncogenic potential remains unclear. Here we show that expression of Setbp1 mutants carrying two such mutations in mouse bone marrow progenitors efficiently induced development of acute myeloid leukemias (AMLs) in irradiated recipient mice with significantly shorter latencies and greater penetrance than expression of wild-type Setbp1, suggesting that these mutations are highly oncogenic. The increased oncogenicity of Setbp1 missense mutants could be due in part to their capability to drive significantly higher target gene transcription...
November 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27766616/genomics-of-primary-chemoresistance-and-remission-induction-failure-in-paediatric-and-adult-acute-myeloid-leukaemia
#11
Fiona C Brown, Paolo Cifani, Esther Drill, Jie He, Eric Still, Shan Zhong, Sohail Balasubramanian, Dean Pavlick, Bahar Yilmazel, Kristina M Knapp, Todd A Alonzo, Soheil Meshinchi, Richard M Stone, Steven M Kornblau, Guido Marcucci, Alan S Gamis, John C Byrd, Mithat Gonen, Ross L Levine, Alex Kentsis
Cure rates of children and adults with acute myeloid leukaemia (AML) remain unsatisfactory partly due to chemotherapy resistance. We investigated the genetic basis of AML in 107 primary cases by sequencing 670 genes mutated in haematological malignancies. SETBP1, ASXL1 and RELN mutations were significantly associated with primary chemoresistance. We identified genomic alterations not previously described in AML, together with distinct genes that were significantly overexpressed in therapy-resistant AML. Defined gene mutations were sufficient to explain primary induction failure in only a minority of cases...
January 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/27646892/-characterization-of-mutational-pattern-in-patients-with-ph-negative-myeloproliferative-neoplasms
#12
F Xing, Y N Lin, Q Sun, L Qin, Y J Jia, D L Zhang, K Ru
Objective: To characterize the molecular profile in patients with Ph negative myeloproliferative neoplasms (MPN) by exploring 49 gene mutations. Methods: Targeted gene sequencing were performed to analyze 49 MPN-associated genes in 51 patients with Ph negative MPN, of which CARL (exon 9), NPM1 (exon 12) and CEBPA (TAD, BZIP domains) were investigated by using Sanger sequencing simultaneously, while FLT3-ITD was assessed by PCR method. Results: Mutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60...
September 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/27611742/novel-bcr-abl1-fusion-and-leukemic-mutations-of-setbp1-pax5-and-tp53-detected-by-next-generation-sequencing-in-chronic-myeloid-leukemia
#13
Shuang Fu, Yanping Hu, Yu Fu, Fang Chen, Xuan Liu, Minyu Zhang, Xiaohui Wang, Shichun Tu, Jihong Zhang
Patients with BCR-ABL1 fusion genes are potential candidates for targeted therapy with tyrosine kinase inhibitor (TKI) imatinib. However, novel BCR-ABL1 fusion variants can be undetected by qRT-PCR-based routine molecular screening, affecting immediate patient management and proper treatment selection. In this study, we describe a case of chronic myeloid leukemia (CML) harboring a novel BCR-ABL1 variant gene. Although Fluorescent In situ Hybridization (FISH) analysis suggested Philadelphia (Ph) translocation, qRT-PCR screening failed to detect the presence of a functional fusion transcript, which is critical for selecting targeted therapy against BCR-ABL1 fusion with aberrant kinase activity...
August 12, 2016: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/27587251/-chronic-neutrophilic-leukemia-complicated-with-multiple-myeloma-two-cases-report-and-literature-review
#14
B Jiang, J Y Qi, Q H Li, Y Xu, M Y Sun, W W Zheng, F Chen, L G Qiu
OBJECTIVE: To explored the diagnosis and treatment of chronic neutrophilic leukemia (CNL) complicated with multiple myeloma (MM). METHODS: The clinical features and molecular biological characteristics of 2 patients with CNL complicated with MM were summarized, and the diagnosis and treatment of the patients were retrospectively reviewed. RESULTS: The diagnosis of CNL complicated with MM was established in 2 cases. Case 1 had CSF3R mutation (P733T), but CSF3R-exon 14 mutation and SETBP1 mutation were all negative...
August 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27577874/fine-mapping-novel-loci-identification-and-snp-association-transferability-in-a-genome-wide-association-study-of-qrs-duration-in-african-americans
#15
Daniel S Evans, Christy L Avery, Mike A Nalls, Guo Li, John Barnard, Erin N Smith, Toshiko Tanaka, Anne M Butler, Sarah G Buxbaum, Alvaro Alonso, Dan E Arking, Gerald S Berenson, Joshua C Bis, Steven Buyske, Cara L Carty, Wei Chen, Mina K Chung, Steven R Cummings, Rajat Deo, Charles B Eaton, Ervin R Fox, Susan R Heckbert, Gerardo Heiss, Lucia A Hindorff, Wen-Chi Hsueh, Aaron Isaacs, Yalda Jamshidi, Kathleen F Kerr, Felix Liu, Yongmei Liu, Kurt K Lohman, Jared W Magnani, Joseph F Maher, Reena Mehra, Yan A Meng, Solomon K Musani, Christopher Newton-Cheh, Kari E North, Bruce M Psaty, Susan Redline, Jerome I Rotter, Renate B Schnabel, Nicholas J Schork, Ralph V Shohet, Andrew B Singleton, Jonathan D Smith, Elsayed Z Soliman, Sathanur R Srinivasan, Herman A Taylor, David R Van Wagoner, James G Wilson, Taylor Young, Zhu-Ming Zhang, Alan B Zonderman, Michele K Evans, Luigi Ferrucci, Sarah S Murray, Gregory J Tranah, Eric A Whitsel, Alex P Reiner, Nona Sotoodehnia
The electrocardiographic QRS duration, a measure of ventricular depolarization and conduction, is associated with cardiovascular mortality. While single nucleotide polymorphisms (SNPs) associated with QRS duration have been identified at 22 loci in populations of European descent, the genetic architecture of QRS duration in non-European populations is largely unknown. We therefore performed a genome-wide association study (GWAS) meta-analysis of QRS duration in 13,031 African Americans from ten cohorts and a transethnic GWAS meta-analysis with additional results from populations of European descent...
October 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27389056/exome-sequencing-identifies-highly-recurrent-somatic-gata2-and-cebpa-mutations-in-acute-erythroid-leukemia
#16
N Ping, A Sun, Y Song, Q Wang, J Yin, W Cheng, Y Xu, L Wen, H Yao, L Ma, H Qiu, C Ruan, D Wu, S Chen
Acute erythroid leukemia (AEL), characterized by a predominant erythroid proliferation, is a subtype of acute myelogenous leukemia. The genetic basis of AEL remains poorly defined. Through whole-exome sequencing, we identified high frequencies of mutations in CEBPA (32.7%), GATA2 (22.4%), NPM1 (15.5%), SETBP1 (12.1%) and U2AF1 (12.1%). Structure prediction analysis revealed that most of the GATA2 mutations were located at the DNA-binding N-terminal zinc-finger near the DNA-binding interface, suggesting that mutations could result in at least partial inactivation of GATA2 protein...
January 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27385790/integrating-clinical-features-and-genetic-lesions-in-the-risk-assessment-of-patients-with-chronic-myelomonocytic-leukemia
#17
Chiara Elena, Anna Gallì, Esperanza Such, Manja Meggendorfer, Ulrich Germing, Ettore Rizzo, Jose Cervera, Elisabetta Molteni, Annette Fasan, Esther Schuler, Ilaria Ambaglio, Maria Lopez-Pavia, Silvia Zibellini, Andrea Kuendgen, Erica Travaglino, Reyes Sancho-Tello, Silvia Catricalà, Ana I Vicente, Torsten Haferlach, Claudia Haferlach, Guillermo F Sanz, Luca Malcovati, Mario Cazzola
Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative neoplasm with variable clinical course. To predict the clinical outcome, we previously developed a CMML-specific prognostic scoring system (CPSS) based on clinical parameters and cytogenetics. In this work, we tested the hypothesis that accounting for gene mutations would further improve risk stratification of CMML patients. We therefore sequenced 38 genes to explore the role of somatic mutations in disease phenotype and clinical outcome...
September 8, 2016: Blood
https://www.readbyqxmd.com/read/27174585/targeted-next-generation-sequencing-identifies-a-subset-of-idiopathic-hypereosinophilic-syndrome-with-features-similar-to-chronic-eosinophilic-leukemia-not-otherwise-specified
#18
Sa A Wang, Wayne Tam, Albert G Tsai, Daniel A Arber, Robert P Hasserjian, Julia T Geyer, Tracy I George, David R Czuchlewski, Kathryn Foucar, Heesun J Rogers, Eric D Hsi, B Bryan Rea, Adam Bagg, Paola Dal Cin, Chong Zhao, Todd W Kelley, Srdan Verstovsek, Carlos Bueso-Ramos, Attilio Orazi
The distinction between chronic eosinophilic leukemia, not otherwise specified and idiopathic hypereosinophilic syndrome largely relies on clonality assessment. Prior to the advent of next-generation sequencing, clonality was usually determined by cytogenetic analysis. We applied targeted next-generation sequencing panels designed for myeloid neoplasms to bone marrow specimens from a cohort of idiopathic hypereosinophilic syndrome patients (n=51), and assessed the significance of mutations in conjunction with clinicopathological features...
August 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27016271/genome-wide-association-and-exome-sequencing-study-of-language-disorder-in-an-isolated-population
#19
Sergey A Kornilov, Natalia Rakhlin, Roman Koposov, Maria Lee, Carolyn Yrigollen, Ahmet Okay Caglayan, James S Magnuson, Shrikant Mane, Joseph T Chang, Elena L Grigorenko
BACKGROUND AND OBJECTIVE: Developmental language disorder (DLD) is a highly prevalent neurodevelopmental disorder associated with negative outcomes in different domains; the etiology of DLD is unknown. To investigate the genetic underpinnings of DLD, we performed genome-wide association and whole exome sequencing studies in a geographically isolated population with a substantially elevated prevalence of the disorder (ie, the AZ sample). METHODS: DNA samples were collected from 359 individuals for the genome-wide association study and from 12 severely affected individuals for whole exome sequencing...
April 2016: Pediatrics
https://www.readbyqxmd.com/read/26980750/mutations-of-setbp1-and-jak3-in-juvenile-myelomonocytic-leukemia-a-report-from-the-italian-aieop-study-group
#20
Silvia Bresolin, Paola De Filippi, Francesca Vendemini, Mirko D'Alia, Marco Zecca, Lueder H Meyer, Cesare Danesino, Franco Locatelli, Riccardo Masetti, Giuseppe Basso, Geertruy Te Kronnie
Juvenile myelomonocytic leukemia (JMML) is a rare aggressive disease of early childhood. Driver mutations in the Ras signaling pathways are a key feature of JMML patients. Mutations in SETBP1 and JAK3 were recently identified in a subset of JMML patients characterized by poor prognosis and progression of disease. In this study, we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with JMML, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1...
May 17, 2016: Oncotarget
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