Abstract:
:Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare subtype of myeloid neoplasm. Clonal evolution in the development of BPDCN remains to be elucidated. In the present study, we examined clonal evolution in a case of BPDCN by analyzing the distribution of gene mutations in tumor cells and non-tumor blood cells. The p.D1129fs and p.K1005fs TET2 mutations, p.P95H SRSF2 mutation, and p.L287fs NPM1 mutation were identified in a skin tumor at diagnosis and peripheral blood mononuclear cells at relapse. Notably, the p.D1129fs TET2 and p.L287fs NPM1 mutations were observed only in tumor cells, while the p.K1005fs TET2 and p.P95H SRSF2 mutations were found in both tumor cells and non-tumor blood cells. Recent genetic studies have suggested that some blood cancers may originate from clonal hematopoiesis, harboring somatic mutations. In the present case, the data suggest that BPDCN originated from clonal hematopoiesis with the p.K1005fs TET2 and p.P95H SRSF2 mutations via acquisition of the additional p.D1129fs TET2 and p.L287fs NPM1 mutations.
journal_name
Int J Hematoljournal_title
International journal of hematologyauthors
Suma S,Sakata-Yanagimoto M,Nguyen TB,Hattori K,Sato T,Noguchi M,Nannya Y,Ogawa S,Watanabe R,Fujimoto M,Nakamura N,Kusakabe M,Nishikii H,Kato T,Chiba Sdoi
10.1007/s12185-018-2461-zsubject
Has Abstractpub_date
2018-10-01 00:00:00pages
447-451issue
4eissn
0925-5710issn
1865-3774pii
10.1007/s12185-018-2461-zjournal_volume
108pub_type
杂志文章abstract::Granulocyte (neutrophil) antibodies can cause autoimmune neutropenia, drug-induced neutropenia, immune neutropenia after bone marrow transplantation, neonatal immune neutropenia, refractoriness to granulocyte transfusions as well as febrile and pulmonary transfusion reactions. In the last decade, considerable progress...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/BF03165292
更新日期:2002-08-01 00:00:00
abstract::We describe 3 unrelated Japanese patients with familial Mediterranean fever (FMF) due to a compound heterozygous E148Q/M694I mutation in the MEFV gene. The first patient is a 38-year-old man who also has chronic myelogenous leukemia (CML). Because genomic DNA analysis of the patient's nail revealed the E148Q/M694I mut...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/ijh97.03119
更新日期:2004-04-01 00:00:00
abstract::Mouse embryos homozygous for a targeted disruption in the Fli-1 gene show hemorrhage into the neural tube and brain on embryonic day (E)11.0 and die shortly thereafter. Livers from the mutant embryos contain drastically reduced numbers of pronormoblasts, basophilic normoblasts, and colony-forming cells. To determine t...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02994008
更新日期:2001-06-01 00:00:00
abstract::Inherited antithrombin deficiency, an established risk factor for venous thromboembolism (VTE), can be classified into type I (quantitative deficiency) or type II (qualitative deficiency). In the present study, we assessed the VTE risk associated with the phenotypes of antithrombin deficiency in patients admitted to o...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-010-0687-5
更新日期:2010-10-01 00:00:00
abstract::We describe a patient with Philadelphia chromosome (Ph)-positive chronic myelogenous leukemia (CML) who developed an extramedullary blast crisis in the central nervous system (CNS) and then a subcutaneous tumor of the neck during treatment with imatinib mesylate. Administered 400 mg of imatinib mesylate after the diag...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/IJH97.04188
更新日期:2005-05-01 00:00:00
abstract::Cardiac dysfunction due to transfusional iron overload is one of the most critical complications for patients with transfusion-dependent hematological disorders. Clinical parameters such as total red blood cell (RBC) transfusion units and serum ferritin level are usually considered as indicators for initiation of iron...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-010-0719-1
更新日期:2010-12-01 00:00:00
abstract::We report our experience with allogeneic peripheral blood stem cell transplantation (allo-PBSCT) following a nonmyeloablative conditioning regimen consisting of cytarabine (8 g/m2) and cyclophosphamide (120 mg/kg) in the treatment of 2 patients aged 50 and 55 years with refractory chronic myelomonocytic leukemia and c...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract::Bleeding is reportedly one of the major causes of death in patients with chronic neutrophilic leukemia (CNL), but thrombocytopenia, abnormal platelet functions, or coagulopathy has been confirmed to be the cause of the bleeding tendency in only a small proportion of the patients. We report the case of a 49-year-old wo...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02982088
更新日期:2001-12-01 00:00:00
abstract::A patient with t(9;22)-positive chronic myelogenous leukemia (CML) developed a resistance to therapy with imatinib mesylate (Glivec) which coincided with the appearance of t(5;6;12) in the same cells with t(9;22) [46,XX,t(5;6;12)(q14?;q21?;q23?),t(9;22)(q34;q11)]. She remains in a continuous chronic phase of CML. This...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-009-0275-8
更新日期:2009-05-01 00:00:00
abstract::Graft-versus-host disease (GVHD) and graft-versus leukemia (GVL) effects are closely related to each other after allogeneic stem cell transplantation. This association exists because of the extensive and complicated interaction between cellular donor components and recipient components concomitant with cytokine storms...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/BF02983991
更新日期:2005-01-01 00:00:00
abstract::The occurrence of adenopathy in patients with myelodysplastic syndrome-associated extramedullary myeloid cell tumors has rarely been reported. We describe a 7-year-old girl with juvenile myelomonocytic leukemia who showed the novel chromosomal abnormality t(9;12)(p22;q24.1) and who developed severe adenopathy of the c...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/ijh97.04040
更新日期:2004-08-01 00:00:00
abstract::The author would like to correct the error in the "Abstract" section of original publication as given below. ...
journal_title:International journal of hematology
pub_type: 杂志文章,已发布勘误
doi:10.1007/s12185-017-2385-z
更新日期:2018-01-01 00:00:00
abstract::In order to better understand the biology of adult T cell leukemia (ATL), we aimed to establish a novel method, which allows the primary growth of ATL cells using a co-culture system with murine bone marrow-derived stromal cells, MS-5. ATL cells grew in close contact with MS-5 layers and formed so-called "cobblestone ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-008-0207-z
更新日期:2008-12-01 00:00:00
abstract::Gene-marking studies were the first approved clinical protocols introducing exogenous genetic material into human cells. Such studies were never intended to provide direct therapeutic benefit. Instead, they were expected to provide information about normal cell biology and disease pathogenesis that could not be obtain...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/BF02981898
更新日期:2001-01-01 00:00:00
abstract::Bortezomib is a proteasome inhibitor demonstrating substantial activity in multiple myeloma. One of its key toxicities is peripheral neuropathy, which is reversible in most patients. The possibility that bortezomib might in rare cases induce severe neuropathies by auto-inflammatory mechanisms remains controversial. We...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-011-0847-2
更新日期:2011-06-01 00:00:00
abstract::The NOTCH and nuclear factor kappa B (NF-κB) pathways are both constitutively activated in Chronic Lymphocytic Leukemia (CLL). We first described the NOTCH1 PEST domain mutation in a CLL subgroup, but the activation of the NOTCH pathway in NOTCH1-unmutated cases remains unexplained. Here, we investigated whether genet...
journal_title:International journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s12185-013-1368-y
更新日期:2013-08-01 00:00:00
abstract::CD21 is a 145-kDa membrane glycoprotein mainly expressed on B cells and follicular dendritic cells, and is involved in B-cell activation, survival and proliferation. CD21 can be cleaved to give soluble CD21 (sCD21), which is constantly shed in healthy persons. We show here that plasma sCD21 levels are higher, while B-...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-012-1147-1
更新日期:2012-09-01 00:00:00
abstract::We identified a novel gene fusion of ANKRD28 (ankyrin repeat domain 28) on 3p25 to NUP98 on 11p15 in a patient with adult myelodysplastic syndrome/acute myelogenous leukemia. A partially cryptic 3-way translocation, t(3;5;11)(p25;q35;p15), that had initially been supposed to be t(3;5)(p25;q35) was revealed by precise ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/IJH97.07054
更新日期:2007-10-01 00:00:00
abstract::A 38-year-old Japanese man with myelodysplastic syndrome (MDS), whose bone marrow smears demonstrated hypercellularity, was treated with oral cyclosporin A (CsA) therapy. During the course of this therapy, the numbers of peripheral blood and bone marrow blasts increased and the level of serum lactate dehydrogenase inc...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02982046
更新日期:2002-04-01 00:00:00
abstract::We report three cases of adult leukemias with the t(1;19)(q23;p13) translocation, two with acute lymphoblastic leukemia (ALL:L2) and one with megakaryoblastic crisis of chronic myelocytic leukemia. Only one patient with ALL showed the same E2A/PBX1 fusion transcripts as those observed in childhood ALLs with the t(1;19...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:1994-12-01 00:00:00
abstract::Abnormal platelet-derived growth factor receptor (PDGFR)-mediated signaling may cause hematologic neoplasm. The PDGFR beta (PDGFRB) gene, located at chromosome band 5q31-33, forms a fusion gene as a result of chromosome translocation. Although patients with PDGFRB rearrangement mostly present with myeloproliferative n...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-016-2167-z
更新日期:2017-05-01 00:00:00
abstract::The widespread use of tissue including hematopoietic stem cell products is justification for the development of standards by professional societies and for regulation by governmental agencies. The Food and Drug Administration (FDA) developed a tiered, risk-based regulatory model. At the low end of risk to the tissue r...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/BF02982036
更新日期:2002-04-01 00:00:00
abstract::Hairy cell leukemia (HCL) is a rare type of chronic B-cell leukemia characterized by the hairy morphology of the leukemia cells. All of 5 HCL samples and an HCL-derived cell line, BNBH-I, showed serrated edges and hairlike projections in May-Grünwald Giemsa stain and protruding actin spikes and lamellipodia in phalloi...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02983784
更新日期:2003-04-01 00:00:00
abstract::B cell lymphoma, unclassifiable, with features intermediate between diffuse large B cell lymphoma and Burkitt lymphoma (BL) is a new entity in WHO classification 2008, and includes Burkitt-like transformation of follicular lymphoma (FL). However, the pathological significance of BCL-2/IgH translocation, which is chara...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-010-0741-3
更新日期:2011-01-01 00:00:00
abstract::Recombinant human granulocyte colony-stimulating factor (rhG-CSF) is now undergoing clinical trials. We investigated the effects of rhG-CSF on the function of neutrophils in vivo in healthy volunteers. rhG-CSF (0.5 micrograms/kg) was injected subcutaneously for 6 consecutive days. The number of neutrophils in peripher...
journal_title:International journal of hematology
pub_type: 临床试验,杂志文章
doi:
更新日期:1991-12-01 00:00:00
abstract::To determine useful prognostic factors in treating childhood acute lymphoblastic leukemia (ALL), we correlated conventional risk factors and bone marrow response 14 days after induction chemotherapy. Our study included 116 precursor B-cell (n = 104) and T-cell (n = 12) ALL patients treated with our protocol between 19...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/ijh97.04114
更新日期:2005-04-01 00:00:00
abstract::To investigate the expression of activation molecules on CD5(+)B lymphocytes in peripheral blood of autoimmune hemolytic anemia (AIHA)/Evans patients. The expression of CD80, CD86, and CD69 on CD5(+)B lymphocytes was detected using flow cytometry in 30 AIHA/Evans patients, 18 normal controls (NC) and nine chronic lymp...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-016-1964-8
更新日期:2016-05-01 00:00:00
abstract::Aplastic anemia (AA) and pure red cell aplasia (PRCA) appear to be more prevalent in Asian countries including Korea. However, there are no exact data regarding its prevalence and frequency of allogeneic hematopoietic cell transplantation (HCT) in Korea. Here, we present demographic data relating to AA/PRCA/MDS in Kor...
journal_title:International journal of hematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s12185-017-2280-7
更新日期:2017-10-01 00:00:00
abstract::Peripheral T-cell lymphoma not otherwise specified (PTCL-NOS) comprises a group of heterogeneous lymphomas that do not fit any other identified PTCL-subgroup and show poor prognosis. To clarify clinical aspects of Japanese PTCL-NOS patients, the Hokkaido Hematology Study Group conducted a multicenter retrospective ana...
journal_title:International journal of hematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s12185-013-1383-z
更新日期:2013-08-01 00:00:00
abstract::Interferon regulatory factor-8 (IRF8) is a transcription factor expressed in hematopoietic cells, particularly in mononuclear phagocytes [monocytes/macrophages and dendritic cells (DCs)] and their progenitors. Various studies have demonstrated that IRF8 is essential for the development of monocytes, DCs, eosinophils, ...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/s12185-015-1761-9
更新日期:2015-04-01 00:00:00