Abstract:
:ASXL1 and SRSF2 mutations in AML are frequently found in patients with preexisting myeloid malignancies and are individually associated with poor outcomes. In this multi-institutional retrospective analysis, we assessed the genetic features and clinical outcomes of 43 patients with ASXL1mut SRSF2mut AML and compared outcomes to patients with either ASXL1 (n=57) or SRSF2 (n=70) mutations. Twenty-six (60%) had secondary-AML (s-AML). Variant allele fractions suggested that SRSF2 mutations preceded ASXL1 mutational events. Median overall survival (OS) was 7.0 months (95% CI:3.8,15.3) and was significantly longer in patients with de novo versus s-AML (15.3 versus 6.4 months, respectively; p=0.04 on adjusted analysis). Compared to ASXL1mut SRSF2wt and ASXL1wt SRSF2mut , co-mutated patients had a 1.4 and 1.6 times increase in the probability of death, respectively (p=0.049), with a trend towards inferior OS (median OS = 7.0 vs. 11.5 vs. 10.9 months, respectively; p =0.10). Multivariable analysis suggests this difference in OS is attributable to the high proportion of s-AML patients in the co-mutated cohort (60% vs. 32% and 23%, respectively). Although this study is limited by the retrospective data collection and the relatively small sample size, these data suggest that ASXL1mut SRSF2mut AML is a distinct subgroup of AML frequently associated with s-AML and differs from ASXL1mut SRSF2wt /ASXL1wt SRSF2mut with respect to etiology and leukemogenesis. This article is protected by copyright. All rights reserved.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Richardson DR,Swoboda DM,Moore DT,Johnson SM,Chan O,Galeotti J,Esparza S,Hussaini MO,Van Deventer H,Foster MC,Coombs CC,Montgomery ND,Sallman DA,Zeidner JFdoi
10.1002/ajh.26110subject
Has Abstractpub_date
2021-01-27 00:00:00eissn
0361-8609issn
1096-8652pub_type
杂志文章abstract:DISEASE OVERVIEW:The myelodysplastic syndromes (MDS) are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic th...
journal_title:American journal of hematology
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abstract::This report describes studies investigating the use of a collagen binding assay to improve the laboratory monitoring of desmopressin (DDAVP) therapy in patients with von Willebrand's disease (vWD). We evaluated the response of seven patients with vWD (four type I, three type IIA) to DDAVP, administered using a standar...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830450303
更新日期:1994-03-01 00:00:00
abstract::AL amyloidosis, a systemic disorder characterized by widespread deposition of amyloid fibrils derived from monoclonal Ig light chains in organs and soft tissues, is typically caused by an underlying plasma cell dyscrasia. However, this disease can also be associated rarely with a B-cell lymphoproliferative disorder. I...
journal_title:American journal of hematology
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abstract::Defects in stomatin, alpha-adducin, and beta-adducin have been implicated in erythrocyte disorders of cation permeability. We performed linkage analysis of the genetic loci for these proteins in a large kindred with xerocytosis (dehydrated hereditary stomatocytosis). Using polymerase chain reaction-based genotyping te...
journal_title:American journal of hematology
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更新日期:1999-01-01 00:00:00
abstract::Most cases of immune hemolytic anemia are associated with a positive direct antiglobulin test. However, in some cases, the antiglobulin test is not sensitive enough to detect low levels of red-cell bound antibodies. This report describes a method using radiolabelled purified staphylococcal protein A which is capable o...
journal_title:American journal of hematology
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更新日期:1982-06-01 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
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abstract::In this study, we examined differences in inpatient costs, length of stay, and in-hospital mortality between hospitalizations for patients with and without sickle cell disease (SCD) undergoing high-volume surgical procedures. We used Clinical Classification Software (CCS) codes to identify discharges in the 2002-2005 ...
journal_title:American journal of hematology
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abstract::Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only curative option for primary hemophagocytic lymphohistiocytosis (HLH), a rare disease of infants and young children, characterized by recurrent fever, hepatosplenomegaly, and cytopenia. We report a case of successful engraftment and stable fu...
journal_title:American journal of hematology
pub_type: 杂志文章
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journal_title:American journal of hematology
pub_type: 杂志文章
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更新日期:1984-01-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830170407
更新日期:1984-01-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章,meta分析,评审
doi:10.1002/ajh.10150
更新日期:2002-09-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章,多中心研究
doi:10.1002/ajh.1085
更新日期:2001-06-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830150207
更新日期:1983-09-01 00:00:00
abstract::Polycythemia vera (PV) is a myeloproliferative disorder characterized by thrombotic and, less often, bleeding complications. Many mechanisms have been advanced to explain the occurrence of these complications, none of them satisfactory. We examined a cohort of 27 patients with PV, secondary erythrocytosis, and essenti...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(sici)1096-8652(199903)60:3<196::aid-ajh5>
更新日期:1999-03-01 00:00:00
abstract::Serologic diagnosis for Epstein-Barr virus (EBV) infection is problematic when patients receive exogenous immunoglobulin. We recently diagnosed primary EBV infection by detecting EBV-determined nuclear antigen (EBNA) and EBV-DNA in peripheral blood mononuclear cells (PBMC) using immunofluorescence, in situ hybridizati...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830360416
更新日期:1991-04-01 00:00:00
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journal_title:American journal of hematology
pub_type: 杂志文章,评审
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更新日期:2011-12-01 00:00:00
abstract:DISEASE OVERVIEW:Approximately one-fourth of primary cutaneous lymphomas are B-cell derived and are generally classified into three distinct subgroups: primary cutaneous follicle center lymphoma (PCFCL), primary cutaneous marginal zone lymphoma (PCMZL), and primary cutaneous diffuse large B-cell lymphoma, leg type (PCD...
journal_title:American journal of hematology
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更新日期:2020-08-20 00:00:00
abstract::Trimethoprim and sulfamethoxazole (Bactrim r) is a widely used antibiotic combination effective against a broad spectrum of microbial organisms. There are reports of neutropenia developing during even brief periods of oral therapy, particularly in individuals with either folate deficiency or increased folate requireme...
journal_title:American journal of hematology
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doi:10.1002/ajh.2830230102
更新日期:1986-09-01 00:00:00
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journal_title:American journal of hematology
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更新日期:1988-03-01 00:00:00
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journal_title:American journal of hematology
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更新日期:2015-06-01 00:00:00
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abstract::We have studied telomere length in the bone marrow cells or the granulocyte and lymphocyte cell fractions of 54 patients with myelodysplastic syndromes (MDS) by Southern blot hybridization using the (TTAGGG)4 probe. The average telomere length expressed as the peak telomere repeat array (TRA) in the peripheral blood, ...
journal_title:American journal of hematology
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abstract::Fifty-nine HIV-1 antibody positive and 58 antibody negative hemophiliacs were evaluated over a 2 year study period to gain insight into the natural history and prognosis of HIV-1 disease in members of this risk group. Mean CD4 (Leu 3+) cell counts calculated at 6 month intervals decreased gradually in seropositive pat...
journal_title:American journal of hematology
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journal_title:American journal of hematology
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更新日期:1987-07-01 00:00:00
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journal_title:American journal of hematology
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更新日期:1990-05-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:1998-09-01 00:00:00
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更新日期:1998-02-01 00:00:00