Abstract:
:Although mutations in RNA splicing genes occur frequently in patients with clonal cytopenias of unknown significance (CCUS) and myelodysplastic syndromes (MDS), very often additional common myeloid gene driver mutations are present at diagnosis. Thus, the clinical significance of isolated mutations in the most commonly mutated RNA splicing genes remains unknown. Here we report five unusual patients with an isolated mutation causing a loss of function of ZRSR2, a protein required for recognition of a functional 3' splice site. Two of the patients had a diagnosis of CCUS and three patients had an MDS disorder characterized by low risk features and absence of complex cytogenetic abnor-malities. Notably, all five cases were characterized predominantly by macrocytic anemia. In addition, one CCUS patient followed for more than 15 years with a transfusion dependent macrocytic anemia was found to have an inactivating ZRSR2 mutation with an allele frequency of >60%. We conclude that the common clinical features of patients with an isolated mutation of ZRSR2 are a macrocytic anemia without leukopenia, thrombocytopenia or an increase in marrow blast percentage. At least in some cases, the presence of an isolated ZRSR2 mutation can accompany a dominant hematopoietic clone with a low risk for transformation to frank dysplasia or acute leukemia.
journal_name
Leuk Resjournal_title
Leukemia researchauthors
Fleischman RA,Stockton SS,Cogle CRdoi
10.1016/j.leukres.2017.09.002subject
Has Abstractpub_date
2017-10-01 00:00:00pages
104-107eissn
0145-2126issn
1873-5835pii
S0145-2126(17)30510-6journal_volume
61pub_type
杂志文章abstract::Malignant B-1 cells derived from NZB mice, a murine model of chronic lymphocytic leukemia, produce significantly higher levels of IL-10 mRNA than normal B-1 or B cells. IL-10 may act as an autocrine growth factor for malignant B-1 cells. By addition of antisense oligodeoxynucleotides specific for IL-10 mRNA, we were a...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(94)00129-x
更新日期:1995-03-01 00:00:00
abstract::This paper reports the results of a case control study of non-Hodgkin's lymphoma in the Yorkshire Health Region. In all, 437 cases and 724 controls were interviewed. Risk factors associated with past skin conditions, family history of cancer and infectious mononucleosis, aspects of social life and contact with wood du...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(98)80012-x
更新日期:1988-01-01 00:00:00
abstract::Myelodysplastic syndrome (MDS) in children has been reported to be associated with various constitutional anomalies; however, it has not been described previously in patients with Griscelli syndrome (GS). In this report, we present a case with GS and refractory anemia with an excess of blasts. We believe that careful ...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(98)00075-7
更新日期:1998-09-01 00:00:00
abstract::Bone marrow cells from 109 patients (median age 60) with newly diagnosed acute myeloid leukaemia (AML) were prospectively immunophenotyped (IP) and the prognostic value of monoclonal antibody (MAB) reactivities was analysed to detect differences in complete remission rates and survival, not only between groups of MAB ...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(91)90071-z
更新日期:1991-01-01 00:00:00
abstract::Despite initial remissions, most patients with Ph chromosome positive (Ph(+)) acute leukemia (AL) become refractory to tyrosine kinase inhibitors (TKIs) such as imatinib and dasatinib. This study was designed to determine if targeting the interleukin-3 receptor (IL-3R) with a diphtheria toxin fusion protein (DT(388)IL...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2009.12.008
更新日期:2010-08-01 00:00:00
abstract::We have isolated an M-CSF-like membrane-associated growth factor from human leukemic J6-1 cells that can enhance the growth and colony formation of J6-1 cells in vitro. Indirect evidence suggests that this membrane-associated M-CSF-like growth factor may do so by stimulating a corresponding receptor co-expressed on th...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(97)00135-5
更新日期:1998-01-01 00:00:00
abstract::Many elderly patients with newly diagnosed acute myeloid leukemia (AML) present with cardiac comorbidity precluding the use of anthracycline containing chemotherapy regimens. Amsacrine, a topoisomerase II inhibitor, has been proposed as possible alternative to anthracyclines. Here, we report about the combination of a...
journal_title:Leukemia research
pub_type: 临床试验,杂志文章
doi:10.1016/j.leukres.2007.06.015
更新日期:2008-03-01 00:00:00
abstract::Myelodysplastic syndrome (MDS) are a heterogeneous group of clonal disease characterized by insufficiency of bone marrow, increase of apoptosis and increased risk of acute leukemia progression. Proteins related to the mitotic spindle (AURKA, AURKB, TPX2), to the mitotic checkpoint (MAD2, CDC20) and the regulation of t...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2017.11.013
更新日期:2018-01-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(98)00013-7
更新日期:1998-05-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(97)00038-6
更新日期:1997-06-01 00:00:00
abstract::DNA aneuploidy has been used as a genetic marker of malignancy in multiple myeloma (MM). CD38 and CD138 expression and absence of CD22 and CD19 may define plasmacells (PC). Several authors support evidences of circulating plasmacells, and their role in relapse after autologous stem cell transplantation has been hypoth...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2003.09.015
更新日期:2004-05-01 00:00:00
abstract::Acute myeloid leukemia (AML) is a heterogeneous disease. Until recently, treatment for patients with AML was limited to induction chemotherapy with cytarabine and anthracycline or hypomethylating agents, and, in some instances, allogeneic hematopoietic stem cell transplant. With the recent approval of new therapies-i....
journal_title:Leukemia research
pub_type: 杂志文章,评审
doi:10.1016/j.leukres.2018.09.001
更新日期:2018-10-01 00:00:00
abstract::Incidence and outcomes of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL) are not well established at the population level, especially since the widespread use of immunophenotyping. We studied the epidemiology of CLL in Manitoba (Canada) by combining data from a centralized flow cytometry facility and th...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2009.06.013
更新日期:2009-11-01 00:00:00
abstract::This retrospective study of the thrombocythemia Italian registry (RIT) documented that 71 (30.6%) out of 232 ET patients experienced 88 cardiovascular adverse events (CV-AEs) during anagrelide treatment (522 pt-y). The rate of CV-AEs was: 24.1% for palpitations, 4.3% for angina, 3.5% for arterial hypertension, 3.0% fo...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2011.06.030
更新日期:2011-12-01 00:00:00
abstract::A rare case of a 46-year-old man who underwent myelodysplastic syndrome, acute monocytic leukemia with FLT3-ITD mutation and splenic disruption following orthotopic liver transplantation is reported. The study of this case may be helpful to understand both the pathogenesis of acute leukemia and new complication of liv...
journal_title:Leukemia research
pub_type: 信件
doi:10.1016/j.leukres.2005.11.025
更新日期:2006-07-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2017.03.011
更新日期:2017-06-01 00:00:00
abstract::The onset of acute myeloid leukemia following ionizing radiation or alkylating agent exposure is antedated months to years by the development of 'preleukemia', or secondary myelodysplastic syndrome (sMDS). Mitochondrial abnormalities induced by chloramphenicol and clonal deletions of mitochondrial DNA (mt DNA) in the ...
journal_title:Leukemia research
pub_type: 杂志文章,评审
doi:10.1016/0145-2126(93)90036-k
更新日期:1993-11-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2007.11.032
更新日期:2008-06-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(98)00069-1
更新日期:1998-09-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2015.08.016
更新日期:2015-08-29 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(94)00151-y
更新日期:1995-07-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(91)90025-o
更新日期:1991-01-01 00:00:00
abstract::Leukemia cells enriched from peripheral blood of a patient with myelogenous leukemia were induced to differentiate with a purified T cell lymphokine neuroleukin. With sufficient neuroleukin concentrations, cells with macrophage-like morphology were identified among the developing adherent cells. After 2-5 days, approx...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(98)00129-5
更新日期:1999-01-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章,评审
doi:10.1016/j.leukres.2004.01.022
更新日期:2004-11-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章,多中心研究
doi:10.1016/j.leukres.2005.10.025
更新日期:2006-07-01 00:00:00
abstract::Internal tandem duplications (ITDs) of the FLT3 gene occur in approximately 20-30% of acute myeloid leukemia (AML) patients. We investigated if FLT3 ITDs could be used as minimal residual disease (MRD) markers for AML patients. Patient-specific polymerase chain reaction (PCR) assays for FLT3 ITDs were developed for fo...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/s0145-2126(01)00087-x
更新日期:2001-12-01 00:00:00
abstract::microRNA profiling of acute myeloid leukemia patient samples identified miR-125a as being decreased. Current literature has investigated miR-125a's role in normal hematopoiesis but not within acute myeloid leukemia. Analysis of the upstream region of miR-125a identified several CpG islands. Both precursor and mature m...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/j.leukres.2013.12.021
更新日期:2014-03-01 00:00:00
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journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(89)90085-4
更新日期:1989-01-01 00:00:00
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journal_title:Leukemia research
pub_type: 历史文章,杂志文章
doi:10.1016/0145-2126(85)90108-0
更新日期:1985-01-01 00:00:00
abstract::The capacity of human thymocytes and of differentiated lymphocytes circulating in peripheral blood to perform unscheduled DNA synthesis (a measure of nucleotide excision repair) after UV irradiation was measured by radioautographic analysis. Only 4% of immature T lymphocytes, but 68% of circulating lymphocytes exhibit...
journal_title:Leukemia research
pub_type: 杂志文章
doi:10.1016/0145-2126(85)90006-2
更新日期:1985-01-01 00:00:00