Abstract:
:Acquired α-thalassemia myelodysplastic syndrome (MDS) (ATMDS) is an acquired syndrome characterized by a somatic point mutation or splicing defect in the ATRX gene in patients with myeloid disorders, primarily MDS. In a large MDS patient series, the incidence of ATMDS was below 0.5%. But no large series has yet assessed the incidence of ATMDS in microcytic MDS. In this study, we focused on patients with MDS and unexplained microcytosis, which was defined as absence of iron deficiency, inflammatory disease, or history of inherited hemoglobinopathy. Our data confirm the low frequency of ATRX mutations in MDS: 0% in an unselected clinical trial cohort of 80 low risk MDS, 0.2-0.8% in a multicenter registry of 2,980 MDS and 43% of MDS with unexplained microcytosis in this same registry. In addition, we reported four novel mutations of the ATRX gene in ATMDS. This study further determines the frequency of ATRX mutations and highlights the importance of microcytosis to detect ATRX mutations within MDS patients.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Herbaux C,Duployez N,Badens C,Poret N,Gardin C,Decamp M,Eclache V,Daliphard S,Murati A,Cony-Makhoul P,Cheze S,Beve B,Lacoste C,Prebet T,Hunault-Berger M,Maloisel F,Renneville A,Figeac M,Stamatoullas-Bastard A,Bastardoi
10.1002/ajh.24073subject
Has Abstractpub_date
2015-08-01 00:00:00pages
737-8issue
8eissn
0361-8609issn
1096-8652journal_volume
90pub_type
杂志文章abstract:DISEASE OVERVIEW:Systemic mastocytosis (SM) results from a clonal proliferation of abnormal mast cells (MC) in one or more extracutaneous organs. DIAGNOSIS:The major criterion is presence of multifocal clusters of morphologically abnormal MC in the bone marrow. Minor diagnostic criteria include elevated serum tryptase...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.23459
更新日期:2013-07-01 00:00:00
abstract::A quantitative bioassay for serum erythropoietin in anemic patients was established with erythroid colony-forming technique using methyl cellulose. Fetal mouse liver contains many erythropoietin-dependent erythroid colony-forming cells (CFU-E) with the concentration as well as sensitivity to erythropoietin being the h...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830120210
更新日期:1982-04-01 00:00:00
abstract::The Sicilian type of (delta beta) (0)-thalassemia characterized by a approximately 13 kb deletion, was present in a Turkish boy who is a homozygote and in his heterozygous parents who are first cousins. The father with approximately 21% Hb F had five alpha-globin genes (alpha alpha/alpha alpha alpha) and the mother wi...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830340316
更新日期:1990-07-01 00:00:00
abstract::Long-term survival following chemotherapy or autologous bone marrow transplantation in adults with relapsed/refractory non-Hodgkin's lymphoma was evaluated. English language articles published from January 1, 1988 to September 1, 1993 were obtained from a broad-based MEDLINE search retrieving 3,854 citations regarding...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.2830500208
更新日期:1995-10-01 00:00:00
abstract::Fourteen patients, aged 65-85 years, with refractory (11) or relapsing (3) multiple myeloma were treated with a "protracted-sequential" protocol comprising vincristine 1-2 mg or vindesine 3 mg/M(2) (max. 5 mg) IVI over 4 hr on D1, prednisolone 40-50 mg PO D1-14, and melphalan 2-4 mg PO or cyclophosphamide 50-100 mg PO...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1002/1096-8652(200009)65:1<81::aid-ajh15>3.0.co
更新日期:2000-09-01 00:00:00
abstract::Individuals with more than one defect in natural coagulant/anticoagulant systems have been postulated to be at an increased risk for thrombotic events. We report a case of combined protein S and C deficiency in a young woman, which resulted in fatal arterial mesenteric thrombosis. The role of coagulation defects in ar...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199807)58:3<246::aid-ajh17
更新日期:1998-07-01 00:00:00
abstract::This study demonstrates the quantitative characteristics of the first patient-reported outcome (PRO) tool developed for patients with nontransfusion-dependent β-thalassemia (NTDT), the NTDT-PRO© . A multicenter validation study was performed over 24 weeks, involving 48 patients from Italy, Lebanon, Greece, and Thailan...
journal_title:American journal of hematology
pub_type: 杂志文章,多中心研究
doi:10.1002/ajh.25344
更新日期:2019-02-01 00:00:00
abstract::Cobalamin derivatives serve as coenzymes for the body's two cobalamin-dependent enzymes--adenosylcobalamin-dependent methylmalonyl CoA mutase, and methylcobalamin-dependent methionine methyltransferase. This essay reviews, in brief form and in personal terms, the history, beginning in the mid-1950s, of how these enzym...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.2830340203
更新日期:1990-06-01 00:00:00
abstract::We have investigated whether the quantitative flow cytometry is an useful tool to better characterize B-cell chronic lymphoproliferative disorders (CLDs). Peripheral blood samples from 104 patients with leukemic B-cell disorders and 20 healthy donors were analyzed. Directly phycoerythrin-conjugated CD19, CD20, CD22, C...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/1096-8652(200008)64:4<275::aid-ajh7>3.0.co
更新日期:2000-08-01 00:00:00
abstract::Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare form of Hodgkin lymphoma that typically presents as early stage, indolent disease in young adult males. The relationship between NLPHL and DLBCL is incompletely understood, and there remains a paucity of data with regard the incidence and management of ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23989
更新日期:2015-06-01 00:00:00
abstract::The purpose of this study was to determine if therapeutic levels of Rituximab could be achieved in a patient with renal failure being dialyzed and if Rituximab is removed by hemodialysis. A 54-year-old man with low-grade lymphoma and renal failure on hemodialysis received 8 weekly treatments of Rituximab at 375 mg/M(2...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10213
更新日期:2002-11-01 00:00:00
abstract::The detection and identification of blood group antibodies in patients is crucial for successful allogeneic blood transfusions. Current methods are highly subjective and rely on red blood cells (RBCs), which simultaneously express many blood group antigens, have a short shelf-life, and carry potential biohazard risks....
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(200003)63:3<114::aid-ajh2>
更新日期:2000-03-01 00:00:00
abstract::This study concerned the gamma chain composition of Hb F and the haplotypes of 44 patients with beta-thalassemia major or intermedia and many of their relatives. Seventeen patients came from Northern (Turkish) Cyprus, 12 from the Istanbul area, and 15 from Macedonia and Bulgaria. Analysis of the A gamma T-G gamma-A ga...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830200103
更新日期:1985-09-01 00:00:00
abstract::Chuvash polycythemia results from a homozygous 598C>T mutation in exon 3 of the von Hippel-Lindau (VHL) gene. This disrupts the normoxia pathway for degrading hypoxia inducible factor (HIF)-1alpha and HIF-2alpha causing altered expression of HIF-1 and HIF-2 inducible genes. As hypoxia induces expression of pro-inflamm...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21327
更新日期:2009-02-01 00:00:00
abstract::Patients with indolent non-Hodgkin lymphoma (NHL) have multiple treatment options yet there is no consensus as to the best initial therapy. Lenalidomide, an immunomodulatory agent, has single agent activity in relapsed lymphoma. This trial was conducted to assess feasibility, efficacy, and safety of adding lenalidomid...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24693
更新日期:2017-05-01 00:00:00
abstract::Sickle cell disease (SCD) nephropathy and lower estimated glomerular filtration rate (eGFR) are risk factors for early mortality. Furthermore, rate of eGFR decline predicts progression to end-stage renal disease in many clinical settings. However, factors predicting renal function decline in SCD are poorly documented....
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25263
更新日期:2018-12-01 00:00:00
abstract::Phosphatidylinositol-3-kinase (PI3K) signaling plays a crucial role in oncogene-mediated tumor growth and proliferation. Buparlisib (BKM120) is an oral pan-class I PI3K inhibitor. This phase I study was conducted to determine the dose limiting toxicity (DLT) and maximum tolerated dose (MTD) of BKM120 in patients (pts)...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.24568
更新日期:2017-01-01 00:00:00
abstract::Four men were diagnosed with human immunodeficiency virus infection (AIDS) and autoimmune hemolytic anemia (HIV-AIHA) during the years 1997-2000 at Cook County Hospital, Chicago. All patients presented with the acute onset of severe hemolytic anemia, fever, and splenomegaly. The direct and indirect antiglobulin tests ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.10096
更新日期:2002-06-01 00:00:00
abstract::Despite substantial progress in the treatment of AML, a proportion of patients do not achieve first complete remission (1(st) CR) with the induction chemotherapy, and, among patients achieving it, a majority is expected to relapse within three years. As allogeneic hematopoietic stem cell transplantation has been estab...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21906
更新日期:2011-02-01 00:00:00
abstract::Non-Hodgkin lymphoma arising in the context of immunosuppression is an important adverse outcome after solid organ transplantation. Diffuse large B-cell lymphoma (DLBCL) is the most commonly diagnosed subtype of post-transplantation non-Hodgkin lymphoma, but few studies of transplant recipients have examined subtype-s...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23726
更新日期:2014-07-01 00:00:00
abstract::Congenital malformations of the inferior vena cava (IVC) are uncommon and may be associated with an increased risk of venous thrombosis. We report the case of a man with congenital absence of the IVC and remote history of deep venous thrombosis who now presents with severe abdominal wall superficial thrombophlebitis. ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21089
更新日期:2008-03-01 00:00:00
abstract::Karyotype is frequently used to predict response and outcome in leukemia. This post hoc exploratory analysis evaluated the relationship between baseline cytogenetics and outcome in patients with relapsed/refractory acute lymphoblastic leukemia (R/R ALL) treated with inotuzumab ozogamicin (InO), a humanized CD22 antibo...
journal_title:American journal of hematology
pub_type: 杂志文章,随机对照试验
doi:10.1002/ajh.25394
更新日期:2019-04-01 00:00:00
abstract::We have previously shown that humic acid (well-water humic acid, HA, and synthetic humic acid, SHA) enhances cell surface expression of tissue factor (TF). Here we report that incubation of human umbilical vein endothelial cells (HUVEC) for 2 hr with HA or SHA cause a rapid rise in TF mRNA levels, as shown by Northern...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(SICI)1096-8652(199603)51:3<200::AID-AJH4>
更新日期:1996-03-01 00:00:00
abstract::Since platelets express both platelet-specific and class I HLA antigens, serum antiplatelet reactivity assessed by most platelet antibody techniques could be due to antibodies with either or both specificities. Flow cytometric analysis of sera for detection of antiplatelet antibody commonly employs a purified platelet...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830380411
更新日期:1991-12-01 00:00:00
abstract::Hydroxyurea (HU) is a widely used cytotoxic agent that is known to induce fetal hemoglobin (HbF) production and is presently used to ameliorate the severity of pain episodes in patients with sickle cell anemia (HbSS). Previously we have shown that HU inhibits growth of burst forming unit-erythroid (BFU-E) colonies in ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/1096-8652(200011)65:3<227::aid-ajh9>3.0.co
更新日期:2000-11-01 00:00:00
abstract::This study was designed to explore the value of markers of bone turnover, macrophage inflammatory protein-1alpha (MIP-1alpha), and osteopontin (OPN) in the diagnosis of myeloma bone disease. Twenty-five patients with newly diagnosed and untreated multiple myeloma (MM), and 22 age-, sex-, and bone mineral density-match...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20794
更新日期:2007-03-01 00:00:00
abstract::The effect of several iron chelators on iron uptake and release by mouse peritoneal macrophages has been investigated. The 1,2-dimethyl (L1) and 1-ethyl-2-methyl (L1NEt) derivatives of 3-hydroxypyrid-4-one markedly enhanced iron mobilisation from macrophages pulsed with 59Fe-transferrin-antitransferrin immune complexe...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830340106
更新日期:1990-05-01 00:00:00
abstract::A 74-year old woman with Ph1-negative chronic myelogenous leukemia (CML) and heterozygous for glucose-6-phosphate dehydrogenase (G6PD) was studied. Both A and B types of G6PD were found in skin. In contrast, white blood cells and platelets showed only a single G6PD type A. These results provide further evidence that P...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830170113
更新日期:1984-07-01 00:00:00
abstract::Specific anti-human thymus xenoantiserum (ATS) was utilized for characterizing a human thymus antigen (HTA) preferentially expressed on human thymocytes. Binding of ATS with different cell types was studied by immunofluorescence and immunoperoxidase techniques, as well as by radioimmunoprecipitation (RIP) followed by ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830100206
更新日期:1981-01-01 00:00:00
abstract::A case of a patient presenting with idiopathic concurrent erythrocytic and megakaryocytic aplasia is reported. The patient's response to immunosuppressive therapy and her bone marrow pathology clearly suggest an immune mechanism. Based on the lack of suppression of erythroid colony growth, several mechanisms are postu...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(SICI)1096-8652(199601)51:1<68::AID-AJH11>
更新日期:1996-01-01 00:00:00