当前位置： SCI文献检索 > ANNALS OF HEMATOLOGY期刊下所有文献 > Next-generation sequencing for JAK2 mutation testing: advantages and pitfalls.

Next-generation sequencing for JAK2 mutation testing: advantages and pitfalls.

Abstract：

:The JAK2V617F mutation is part of the major criteria for diagnosis of myeloproliferative neoplasms (MPN). Allele-specific quantitative PCR (qPCR) is the most prevalent method used in laboratories but with the advent of next-generation sequencing (NGS) techniques, we felt necessary to evaluate this approach for JAK2 mutations testing. Among DNA samples from 427 patients analyzed by qPCR and NGS, we found an excellent concordance between both methods when allelic burden was superior to 2% (the detection limit of our NGS assay). Only one sample among 298 was found negative by NGS while allelic burden by qPCR was 3%. Because NGS detection limit is higher, sensitivity was lower as exemplified by 21 samples found negative whereas qPCR measured allelic burdens between 0.1 and 1%. Importantly, quantitative data of samples found positive by both techniques were highly correlated (R2 = 0.9477). We also evaluated 40 samples tested for JAK2 exon 12 mutations by HRM. The concordance with NGS was of 100%. Using NGS, the full coding region of JAK2 was analyzed leading to identification of several variants outside of exon 12 and 14 which were previously described or not. Interestingly, we found one somatic mutation (c.1034A>T p.H345L) which induced constitutive activation of the JAK/STAT pathway leading to an increased proliferation of BaF/3 cells with low-dose EPO. This study showed that NGS is a robust method highly correlated to qPCR, although less sensitive, but providing the opportunity to identify other JAK2 variants with potential impact on disease initiation or evolution.

journal_name

Ann Hematol

journal_title

Annals of hematology

authors

Maslah N,Verger E,Schlageter MH,Miclea JM,Kiladjian JJ,Giraudier S,Chomienne C,Cassinat B

doi

10.1007/s00277-018-3499-y

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

111-118

issue

1

eissn

0939-5555

issn

1432-0584

pii

10.1007/s00277-018-3499-y

journal_volume

98

pub_type

杂志文章

相关文献

ANNALS OF HEMATOLOGY文献大全
  • Serologic response to meningococcal vaccination in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with the terminal complement inhibitor eculizumab.

    abstract：:Eculizumab is indicated for the therapy of patients with symptomatic paroxysmal nocturnal hemoglobinuria (PNH). Due to inhibition of terminal complement cascade, patients on eculizumab are susceptible to Neisseria meningitidis infections. The two mainstays to reduce the risk of infection are vaccination and antibiotic...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-017-2924-y

    authors： Alashkar F,Vance C,Herich-Terhürne D,Preising N,Dührsen U,Röth A

    更新日期：2017-04-01 00:00:00

  • Correlation between leukocytosis and thrombosis in Philadelphia-negative chronic myeloproliferative neoplasms.

    abstract：:The evidence that leukocytes may contribute to the pathogenesis of thrombosis in Chronic Myeloproliferative Neoplasms is increasing but not definitive. To further enforces whether an increased leukocyte count is associated with thrombosis and whether this effect can be modulated by cytoreductive therapy, we analyzed t...

    journal_title：Annals of hematology

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s00277-009-0706-x

    authors： Caramazza D,Caracciolo C,Barone R,Malato A,Saccullo G,Cigna V,Berretta S,Schinocca L,Quintini G,Abbadessa V,Di Raimondo F,Siragusa S

    更新日期：2009-10-01 00:00:00

  • Quality of life during maintenance therapy with the anti-CD20 antibody rituximab in patients with B cell non-Hodgkin's lymphoma: results of a prospective randomized controlled trial.

    abstract：:The introduction of rituximab into the primary treatment of malignant lymphomas of the B cell lineage has had a major impact on the management of these diseases. In addition, prolonged exposure to rituximab as maintenance therapy has been beneficial in patients with follicular lymphoma and mantle cell lymphoma. For th...

    journal_title：Annals of hematology

    pub_type： 杂志文章,随机对照试验

    doi：10.1007/s00277-008-0560-2

    authors： Witzens-Harig M,Reiz M,Heiss C,Benner A,Hensel M,Neben K,Dreger P,Kraemer A,Ho AD

    更新日期：2009-01-01 00:00:00

  • Positron emission tomography in the staging of patients with Hodgkin's lymphoma. A prospective multicentric study by the Intergruppo Italiano Linfomi.

    abstract：:In this prospective multicentric study, we investigated the contribution of positron emission tomography (PET) scanning to the staging of Hodgkin's lymphoma (HL) by computed tomography (CT) and attempted to determine whether it has any impact on therapeutic approach. One hundred eighty six consecutive patients with HL...

    journal_title：Annals of hematology

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s00277-007-0356-9

    authors： Rigacci L,Vitolo U,Nassi L,Merli F,Gallamini A,Pregno P,Alvarez I,Salvi F,Sancetta R,Castagnoli A,Versari A,Biggi A,Gregianin M,Pelosi E,Chisesi T,Bosi A,Levis A,Intergruppo Italiano Linfomi.

    更新日期：2007-12-01 00:00:00

  • D816 mutation of the KIT gene in core binding factor acute myeloid leukemia is associated with poorer prognosis than other KIT gene mutations.

    abstract：:The clinical impact of KIT mutations in core binding factor acute myeloid leukemia (CBF-AML) is still unclear. In the present study, we analyzed the prognostic significance of each KIT mutation (D816, N822K, and other mutations) in Japanese patients with CBF-AML. We retrospectively analyzed 136 cases of CBF-AML that h...

    journal_title：Annals of hematology

    pub_type： 临床试验,杂志文章

    doi：10.1007/s00277-017-3074-y

    authors： Yui S,Kurosawa S,Yamaguchi H,Kanamori H,Ueki T,Uoshima N,Mizuno I,Shono K,Usuki K,Chiba S,Nakamura Y,Yanada M,Kanda J,Tajika K,Gomi S,Fukunaga K,Wakita S,Ryotokuji T,Fukuda T,Inokuchi K

    更新日期：2017-10-01 00:00:00

  • Trends in incidence and medical resource utilisation in patients with chronic lymphocytic leukaemia: insights from the UK Clinical Practice Research Datalink (CPRD).

    abstract：:Chronic lymphocytic leukaemia (CLL) is the most common leukaemia in European adults. We aimed to evaluate time trends in CLL incidence and medical resource utilisation of CLL patients in the UK. We conducted a retrospective, observational cohort analysis using the UK Clinical Practice Research Datalink (CPRD) comprisi...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-014-2217-7

    authors： Pfeil AM,Imfeld P,Pettengell R,Jick SS,Szucs TD,Meier CR,Schwenkglenks M

    更新日期：2015-03-01 00:00:00

  • Prognostic factors of early outcome in pediatric hemophagocytic lymphohistiocytosis: an analysis of 116 cases.

    abstract：:Early mortality remains a major challenge for the treatment of hemophagocytic lymphohistiocytosis (HLH), which warrants the need for prompt risk stratification in the early phase of the disease. We retrospectively analyzed clinical features of a cohort of pediatric patients managed at a tertiary hospital in southern C...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-016-2727-6

    authors： Bin Q,Gao JH,Luo JM

    更新日期：2016-09-01 00:00:00

  • Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.

    abstract：:Bernard-Soulier syndrome (BSS) is a rare autosomal recessive genetic disorder characterized by thrombocytopenia, circulating giant platelets, and prolonged bleeding time. BSS is explained by a defect in primary hemostasis owing to quantitative or qualitative defect in the GPIb-IX-V complex, composed of four subunits: ...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-008-0611-8

    authors： Hadjkacem B,Elleuch H,Gargouri J,Gargouri A

    更新日期：2009-05-01 00:00:00

  • Eltrombopag: an update on the novel, non-peptide thrombopoietin receptor agonist for the treatment of immune thrombocytopenia.

    abstract：:Immune thrombocytopenia (ITP) is characterised by a transient or persistent decrease in platelets accompanied by an increased risk of bleeding, which can have a significant negative impact on patients' health-related quality of life. The condition has long been associated with an increased rate of immune-mediated plat...

    journal_title：Annals of hematology

    pub_type： 杂志文章,评审

    doi：10.1007/s00277-010-0953-x

    authors： Kühne T,Imbach P

    更新日期：2010-07-01 00:00:00

  • Management of extreme thrombocytosis in myeloproliferative neoplasms: an international physician survey.

    abstract：:Extreme thrombocytosis (ExT) has been associated with an increased bleeding risk in myeloproliferative neoplasm (MPN) patients and is included in the high risk category in treatment guidelines. Treatment of patients with ExT has not been studied in prospective trials. To study physicians' approaches to ExT, we distrib...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-016-2826-4

    authors： Koren-Michowitz M,Lavi N,Ellis MH,Vannucchi AM,Mesa R,Harrison CN

    更新日期：2017-01-01 00:00:00

  • Allogeneic bone marrow transplantation compared to peripheral blood stem cell transplantation for the treatment of hematologic malignancies: a meta-analysis based on time-to-event data from randomized controlled trials.

    abstract：:Controversy remains regarding the transplant outcomes of human leukocyte antigen-identical related bone marrow transplantation (BMT) and peripheral blood stem cell transplantation (PBSCT) for the treatment of patients with hematological malignancies. To provide an estimate of the effect of BMT and PBSCT on clinical ou...

    journal_title：Annals of hematology

    pub_type： 杂志文章,meta分析

    doi：10.1007/s00277-011-1299-8

    authors： Chang YJ,Weng CL,Sun LX,Zhao YT

    更新日期：2012-03-01 00:00:00

  • Children and adolescents with follicular lymphoma have an excellent prognosis with either limited chemotherapy or with a "Watch and wait" strategy after complete resection.

    abstract：:Data on clinical features and outcome in pediatric follicular lymphoma (pFL) are scarce. The aim of this retrospective study including 13 EICNHL and/or i-BFM study group members was to assess clinical characteristics and course in a series of 63 pFL patients. pFL was found to be associated with male gender (3:1), olde...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-013-1785-2

    authors： Attarbaschi A,Beishuizen A,Mann G,Rosolen A,Mori T,Uyttebroeck A,Niggli F,Csoka M,Krenova Z,Mellgren K,Kabickova E,Chiang AK,Reiter A,Williams D,Burkhardt B,European Intergroup for Childhood Non-Hodgkin Lymphoma (EICNHL) an

    更新日期：2013-11-01 00:00:00

  • Interim PET-CT-guided therapy in elderly patients with Hodgkin lymphoma-a retrospective national multi-center study.

    abstract：:Hodgkin lymphoma (HL), a disease of mostly young patients, also peaks in the elderly. Despite the profound improvement in the outcome of young patients, in the elderly, 5-year progression-free survival (PFS) rates are under 70%. Interim PET-CT (iPET) is known to be highly predictive for PFS in young HL patients, but i...

    journal_title：Annals of hematology

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1007/s00277-019-03686-y

    authors： Bentur OS,Dann EJ,Paran E,Lavie D,Nachmias B,Ron Y,Dally N,Gutwein O,Herishanu Y,Sarid N,Avivi I,Perry C

    更新日期：2019-07-01 00:00:00

  • Possible effect of medroxyprogesterone acetate (MPA) in lymphoid blast crisis of chronic myelogenous leukemia.

    abstract：:A patient with a lymphoid blast crisis of a chronic myelogenous leukemia (CML) was treated with vindesine, vincristine and prednisone. Blasts disappeared from the peripheral blood but persisted at a level of 60% in the bone marrow. After 5 weeks of continuous therapy, the patient became thrombopenic, and 2 weeks later...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/BF01715138

    authors： Fink M

    更新日期：1994-02-01 00:00:00

  • Valproic acid: an old drug newly discovered as inhibitor of histone deacetylases.

    abstract：:Fusion proteins encoded by several types of chromosomal translocations in promyelocytic leukemia can serve as aberrant transcriptional repressors relying on recruitment of histonedeacetylases (HDACs) into DNA-associated multi-protein complexes. Thus, inappropriate modulation of chromatin structure by HDACs and subsequ...

    journal_title：Annals of hematology

    pub_type： 杂志文章,评审

    doi：10.1007/s00277-004-0850-2

    authors： Göttlicher M

    更新日期：2004-01-01 00:00:00

  • Autoimmune hemolytic anemia in patients with de novo acute myelocytic leukemia.

    abstract：:Autoantibody against erythrocytes has occasionally been observed in patients with de novo acute myelocytic leukemia (AML). However, it is not clear whether this autoantibody in AML patients induces frank hemolysis (autoimmune hemolytic anemia, AIHA), as seen in lymphoid neoplasms. We present two de novo AML patients w...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/BF00663016

    authors： Tamura H,Ogata K,Yokose N,An E,Kamikubo K,Dan K,Kajii E,Nomura T

    更新日期：1996-01-01 00:00:00

  • Establishment of serum-free pre-colony forming unit assays for differentiation of primitive hematopoietic progenitors: serum induces early macrophage differentiation and inhibits early erythroid differentiation of CD34++CD38- cells.

    abstract：:In this report we show that serum has differentiation-inducing effects on primitive hematopoietic progenitor cells with the CD34++CD38- immunophenotype. Using the pre-colony forming unit (pre-CFU) assay as a model for early myelopoiesis, we compared the effects of serum-containing and serum-free media and evaluated di...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s002770000227

    authors： Willems R,Henckaerts E,Lenjou M,Nijs G,Rodrigus I,Moulijn AC,Slegers H,Berneman ZN,Van Bockstaele DR

    更新日期：2001-01-01 00:00:00

  • Human peripheral blood mononuclear cells require factor X and platelets for expression of prothrombinase activity in response to bacterial lipopolysaccharide.

    abstract：:We investigated whether human peripheral blood mononuclear cells (PBMC) express prothrombinase following stimulation with bacterial lipopolysaccharide (LPS). LPS-stimulated PBMC devoid of contaminating platelets failed to activate prothrombin directly. Addition of platelets did not result in expression of prothrombina...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s002770100288

    authors： Pejler G,Geczy CL

    更新日期：2001-05-01 00:00:00

  • Prognostic value of cytogenetics in adult patients with Philadelphia-negative acute lymphoblastic leukemia.

    abstract：:The prognostic value of cytogenetics in adult acute lymphoblastic leukemia (ALL) is not as established as in childhood ALL. We have analyzed the outcome and prognostic value of karyotype in 84 adults diagnosed with Philadelphia-negative ALL from a single institution that received induction chemotherapy and had success...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-011-1331-z

    authors： Gómez-Seguí I,Cervera J,Such E,Martínez-Cuadrón D,Luna I,Ibáñez M,López-Pavía M,Gascón A,Roig M,Martínez J,Sanz J,Montesinos P,Martín-Aragonés G,Lorenzo I,Senent L,Barragán E,Cordón L,Sempere A,Sanz GF,Sanz MA

    更新日期：2012-01-01 00:00:00

  • Retinoic acid in the treatment of acute promyelocytic leukemia: inefficacy of the 13-cis isomer and induction of complete remission by the all-trans isomer complicated by thromboembolic events.

    abstract：:The clinical course of three patients with acute promyelocytic leukemia receiving all-trans retinoic acid (ATRA) as a single agent is reported. The first two patients were in first and second relapse of their leukemia that had occurred despite maintenance treatment with 13-cis retinoic acid after chemotherapy-induced ...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/BF01695469

    authors： Runde V,Aul C,Südhoff T,Heyll A,Schneider W

    更新日期：1992-06-01 00:00:00

  • Phase-II trial of idarubicin, fludarabine, cytosine arabinoside, and filgrastim (Ida-FLAG) for treatment of refractory, relapsed, and secondary AML.

    abstract：:The current phase-II trial was initiated to assess the efficacy and toxicity of the Ida-FLAG regimen in patients with poor-risk acute myeloid leukemia (AML). Three subgroups of patients with AML were eligible for the study: (a) refractory, (b) first relapse, or (c) secondary AML (i.e., signs of trilineage myelodysplas...

    journal_title：Annals of hematology

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1007/s002770050541

    authors： Steinmetz HT,Schulz A,Staib P,Scheid C,Glasmacher A,Neufang A,Franklin J,Tesch H,Diehl V,Dias Wickramanayake P

    更新日期：1999-09-01 00:00:00

  • Changing trend of Epstein-Barr virus association in Hodgkin lymphoma in the Republic of Korea.

    abstract：:Hodgkin lymphoma (HL) in resource-poor population shows an early childhood peak with predominance of mixed cellularity (MCHL) and high Epstein-Barr virus (EBV) association, whereas HL in resource-rich population has a peak in ages 15-29 years with the predominance of nodular sclerosis (NSHL) and low EBV association. W...

    journal_title：Annals of hematology

    pub_type： 杂志文章,多中心研究,评审

    doi：10.1007/s00277-013-1837-7

    authors： Koh YW,Kang HJ,Yoon DH,Suh C,Kim JE,Kim CW,Huh J

    更新日期：2013-12-01 00:00:00

  • Thromboembolic events as an emerging adverse effect during high-dose intravenous immunoglobulin therapy in elderly patients: a case report and discussion of the relevant literature.

    abstract：:A case of an 82-year-old man who suffered an acute ST-elevation myocardial infarction while receiving treatment with intravenous immunoglobulin (IVIg) for thrombocytopenia is discussed. A total of 29 other cases of thromboembolism related to IVIg therapy have been reported, and the incidence seems to be especially hig...

    journal_title：Annals of hematology

    pub_type： 杂志文章,评审

    doi：10.1007/s00277-004-0895-2

    authors： Hefer D,Jaloudi M

    更新日期：2004-10-01 00:00:00

  • Distinct clinical and biological characteristics of acute myeloid leukemia with higher expression of long noncoding RNA KIAA0125.

    abstract：:Expression of long non-coding RNA KIAA0125 has been incorporated in various gene expression signatures for prognostic prediction in acute myeloid leukemia (AML) patients, yet its functions and clinical significance remain unclear. This study aimed to investigate the clinical and biological characteristics of AML beari...

    journal_title：Annals of hematology

    pub_type： 临床试验,杂志文章

    doi：10.1007/s00277-020-04358-y

    authors： Wang YH,Lin CC,Hsu CL,Hung SY,Yao CY,Lee SH,Tsai CH,Hou HA,Chou WC,Tien HF

    更新日期：2021-02-01 00:00:00

  • Increased cell apoptosis in bone marrow trephine biopsies and immunomagnetically isolated myeloid progenitor cells in patients with chronic idiopathic neutropenia.

    abstract：:The frequency of apoptotic cells in bone marrow trephine biopsies and cytospins of immunomagnetically isolated myeloid progenitor cells was determined in 39 patients with chronic idiopathic neutropenia (CIN) and 12 hematologically normal individuals using the in situ end-labeling (ISEL) apoptosis detection method. We ...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-003-0709-y

    authors： Koumaki V,Papadaki HA,Stefanaki K,Damianaki A,Gemetzi C,Katonis P,Vrentzos G,Eliopoulos GD

    更新日期：2003-10-01 00:00:00

  • Treatment of late-onset hemorrhagic cystitis after allogeneic hematopoietic stem cell transplantation: the role of corticosteroids.

    abstract：:We aimed to evaluate the treatments, particularly the role of corticosteroids, in patients with late-onset hemorrhagic cystitis (LOHC) after allogeneic hematopoietic stem cell transplantation (allo-HSCT). One hundred and sixty-three consecutive patients who underwent non-T-cell-depleted allo-HSCT and met the criterion...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-018-3290-0

    authors： Mo XD,Zhang XH,Xu LP,Wang Y,Yan CH,Chen H,Chen YH,Han W,Wang FR,Wang JZ,Liu KY,Huang XJ

    更新日期：2018-07-01 00:00:00

  • Prognostic value of interim and end-of-treatment FDG-PET in follicular lymphoma: a systematic review.

    abstract：:This study aimed to systematically review the prognostic value of interim and end-of-treatment (18)F-fluoro-2-deoxy-D-glucose positron emission tomography (FDG-PET) in follicular lymphoma during and after first-line therapy. The PubMed/MEDLINE database was searched for relevant original studies. Included studies were ...

    journal_title：Annals of hematology

    pub_type： 杂志文章,评审

    doi：10.1007/s00277-015-2553-2

    authors： Adams HJA,Nievelstein RAJ,Kwee TC

    更新日期：2016-01-01 00:00:00

  • Emerging resistant bacteria strains in bloodstream infections of acute leukaemia patients: results of a prospective study by the Rete Ematologica Lombarda (Rel).

    abstract：:Multiresistant bacterial infections are a potentially life-threatening condition in acute leukaemia (AL) patients. We aimed to better define the very recent epidemiology and outcome of bloodstream infections (BSIs) in a real-life setting. We prospectively collected all consecutive febrile/infectious episodes occurring...

    journal_title：Annals of hematology

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s00277-016-2815-7

    authors： Cattaneo C,Zappasodi P,Mancini V,Annaloro C,Pavesi F,Skert C,Ferrario A,Todisco E,Saccà V,Verga L,Passi A,Da Vià M,Ferrari S,Mometto G,Petullà M,Nosari A,Rossi G

    更新日期：2016-12-01 00:00:00

  • The association of venous thromboembolism with survival in pediatric cancer patients: a population-based cohort study.

    abstract：:Venous thromboembolism (VTE) is a well-recognized complication in pediatric oncology patients. Studies in adult oncology patients have suggested a potential negative association between VTE and survival, but this association has not been examined in pediatric patients yet. The aim of this study was to assess the assoc...

    journal_title：Annals of hematology

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s00277-018-3371-0

    authors： Forbrigger Z,Kuhle S,Brown MM,Moorehead PC,Digout C,Kulkarni K

    更新日期：2018-10-01 00:00:00

  • Wilms' tumor gene 1 (WT1) expression in subtypes of acute lymphoblastic leukemia (ALL) of adults and impact on clinical outcome.

    abstract：:Wilms' tumor gene 1 (WT1) is gaining increasing attention as a therapeutic target molecule due to its common expression in acute leukemias and its involvement in cell proliferation. Here, we reported on WT1 messenger RNA expression levels at diagnosis in a series of 238 adult acute lymphoblastic leukemia (ALL) samples...

    journal_title：Annals of hematology

    pub_type： 杂志文章

    doi：10.1007/s00277-009-0746-2

    authors： Busse A,Gökbuget N,Siehl JM,Hoelzer D,Schwartz S,Rietz A,Thiel E,Keilholz U

    更新日期：2009-12-01 00:00:00