Abstract:
:Isocitrate dehydrogenase IDH 1 and IDH 2 mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.We targeted IDH1 and IDH2 genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.We report one IDH1 variant: c.315 G>T, p.Gly105Gly in 15 % of cases, which was assigned to the worst outcome in several studies. Three IDH2 variants were found, among them, one intronic substitution c.543+45 G>A (rs142033117) and two new variants not previously described: c.389 A>T, p.Lys130Met and c.414 T>C, p.Thr138Thr. The p.Lys130Met was found in one case diagnosed with Waldenstrom's disease with familial history of cancer. The enrolled in silico analysis, the functional study, and the absence of this variant in control population strengthen the hypothesis of its deleterious effect.From an extended number of candidate genes analyzed in familial hematological malignancies, IDH2 might be considerably involved since we reported a potential damaging effect.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Hamadou WS,Bourdon V,Létard S,Brenet F,Laarif S,Besbes S,Paci A,David M,Penard-Lacronique V,Youssef YB,Laatiri MA,Eisinger F,Mari V,Gesta P,Dreyfus H,Bonadona V,Dugast C,Zattara H,Faivre L,Noguchi T,Khélif A,Saldoi
10.1007/s00277-016-2813-9subject
Has Abstractpub_date
2016-12-01 00:00:00pages
1943-1947issue
12eissn
0939-5555issn
1432-0584pii
10.1007/s00277-016-2813-9journal_volume
95pub_type
杂志文章abstract::Polo-like kinase 2 (SNK/PLK2), a transcriptional target for wild-type p53 and is hypermethylated in a high percentage of multiple myeloma and B cell lymphomas patients. Given these data, we sought to study the methylation status of the specific gene in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), a...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-011-1193-4
更新日期:2011-09-01 00:00:00
abstract::A case of disseminated infection with Fusarium oxysporum following chemotherapy of acute myelogenous leukemia is reported. Antifungal treatment was successful with a 13-day course of oral terbinafine 250 mg t.i.d. in combination with amphotericin B deoxycholate 1.0-1.5 mg/kg qd and subsequently intravenous liposomal a...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-003-0795-x
更新日期:2004-06-01 00:00:00
abstract::The use of prophylactic antimicrobials during autologous peripheral blood stem cell transplantation (APBSCT) remains controversial. A prospective study was therefore conducted to examine whether the use of prophylactic antimicrobials is necessary. In this study, all the antimicrobials were given therapeutically rather...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s00277-002-0567-z
更新日期:2003-01-01 00:00:00
abstract::A clinical trial was initiated to evaluate the recommended dose of cyclophosphamide in combination with bortezomib and dexamethasone as induction treatment before stem cell transplantation for younger patients with newly diagnosed multiple myeloma (MM). Thirty patients were treated with three 21-day cycles of bortezom...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00277-009-0726-6
更新日期:2009-11-01 00:00:00
abstract::To investigate the problem of allogeneic bone marrow transplantation (allo-BMT) for advanced stage patients, we retrospectively analyzed 24 consecutive patients who underwent allo-BMT in the non-remission stage. Twenty-four patients (19 males and 5 females) with acute leukemia, chronic myelogenous leukemia, and malign...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-002-0506-z
更新日期:2002-10-01 00:00:00
abstract::The development of thrombocytopenia following exposure to the platelet glycoprotein (GP) IIb/ IIIa receptor antagonist abciximab (c7E3 Fab, ReoPro) is associated with adverse clinical outcome and excessive bleeding. Pseudothrombocytopenia is an important differential diagnosis in sudden onset of thrombocytopenia in a ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050573
更新日期:2000-03-01 00:00:00
abstract::To assess the survival outcomes and adverse events (AEs) of high-intermediate- or high-risk patients with diffuse large B cell lymphoma (DLBCL) who underwent conventional chemotherapy plus rituximab with or without first-line autologous stem cell transplantation (ASCT). Related studies published on Medline, Embase, Co...
journal_title:Annals of hematology
pub_type: 杂志文章,meta分析
doi:10.1007/s00277-020-04016-3
更新日期:2020-06-01 00:00:00
abstract::Fanconi anemia (FA) is a DNA repair disorder resulting from mutations in genes encoding for FA DNA repair complex components and is characterized by variable congenital abnormalities, bone marrow failure (BMF), and high incidences of malignancies. FA mosaicism arises from reversion or other compensatory mutations in h...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-03954-2
更新日期:2020-05-01 00:00:00
abstract::The microRNA/miR deregulation in BCR-ABL-negative myelodysplastic-myeloproliferative neoplasms (MDS/MPN) is not known. Myelopoiesis-associated miR-10a, miR-17-5p, miR-155, miR-223 and miR-424 were analysed by real-time polymerase chain reaction (PCR) in bone marrow cells of atypical chronic myeloid leukaemia (aCML, n ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-010-1072-4
更新日期:2011-03-01 00:00:00
abstract::The production of erythropoietin (Epo), the glycoprotein hormone which controls red blood cell formation, is regulated by feedback mechanisms sensing tissue oxygenation. The mechanism of the putative oxygen sensor has yet to be elucidated. There is evidence that at least two pathways participate in hypoxia signal tran...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770050514
更新日期:1999-06-01 00:00:00
abstract::Patients with Philadelphia chromosome-positive (Ph+) and/or BCR-ABL+ acute lymphoblastic leukemia (ALL) have extremely poor prognoses. Most of these patients have additional, heterogenous karyotype abnormalities, the majority of which have uncertain clinical significance. In this study we analyzed the clinical charact...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-006-0099-z
更新日期:2006-06-01 00:00:00
abstract::Elderly and infirm patients with acute myeloid leukemia (AML) with either induction refractory or relapse disease may benefit from treatment with azacitidine. We retrospectively reviewed the data from five tertiary centers in Israel, treated between 2009 and 2015. Thirty-four patients (median age 74 years) were identi...
journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00277-016-2914-5
更新日期:2017-04-01 00:00:00
abstract::High-dose immunosuppressive therapy (HDIT) with autologous hematopoietic stem cell transplantation (AHSCT) is a promising approach to treatment of multiple sclerosis (MS) patients. In this paper, we present the long-term outcomes of a prospective single-center study with the analysis of the safety and efficacy of HDIT...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-015-2337-8
更新日期:2015-07-01 00:00:00
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
更新日期:2016-12-01 00:00:00
abstract::Interstitial pneumonia (IP) is a lethal complication in lymphoma patients undergoing chemotherapy. A total of 2212 consecutive patients diagnosed with lymphoma between 2009 and 2014 were enrolled in the present study. IP was defined as diffuse pulmonary interstitial infiltrate found on computed tomography scans. IP wa...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-017-3157-9
更新日期:2018-01-01 00:00:00
abstract::The requirement of antifungal prophylaxis has not been established in the chemotherapies for malignant lymphoma. This study was conducted to explore the incidence of invasive fungal diseases (IFD) and their risk factors in patients receiving salvage therapies for malignant lymphoma. We retrospectively analyzed 177 con...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-014-2093-1
更新日期:2014-10-01 00:00:00
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
更新日期:2017-10-01 00:00:00
abstract::A 72-year-old-man with night sweats and a low-grade fever was found to have bilateral adrenal enlargement associated with incipient adrenal insufficiency. Without any intervention, these adrenal lesions regressed spontaneously, accompanied by disappearance of clinical symptoms. Seven months later, however, the lesions...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770100335
更新日期:2001-09-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-020-04277-y
更新日期:2020-11-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770000245
更新日期:2001-02-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00277-013-1693-5
更新日期:2013-06-01 00:00:00
abstract::Because of the widespread use of immunosuppressive drugs, CMV infection is one of the most important causes of morbidity and mortality in patients with haematological malignancies worldwide. The aim of the study was to retrospectively analyse the epidemiology of CMV infection in haematological patients. Between 2008 a...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-016-2831-7
更新日期:2017-01-01 00:00:00
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 mu...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-018-3499-y
更新日期:2019-01-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s002770100288
更新日期:2001-05-01 00:00:00
abstract::Arsenic trioxide (As2O3) is a highly effective agent in the treatment of acute promyelocytic leukemia (APL), whereas other hematopoietic tumors are less responsive to this agent and mechanisms underlying As2O3,-resistance are poorly understood. To better understand the complex network of GSH-related pathways in As2O3 ...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-006-0139-8
更新日期:2006-10-01 00:00:00
abstract::2-Chlorodeoxyadenosine (2-CdA) is a purine analogue which has proved to be active in acute myeloid leukemia (AML), especially in children. In adults, results yielded by 2-CdA alone or with ara-C were less encouraging. Here we report on the efficacy of 2-CdA with or without daunorubicin (DNR) in 19 relapsing or refract...
journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/s002770050355
更新日期:1998-01-01 00:00:00
abstract::Spontaneous splenic rupture is a rare, though life-threatening complication of some hematological malignancies and is even more infrequent as the initial symptom of acute lymphoblastic leukemia. We describe the fourth case, to our knowledge, of acute lymphoblastic leukemia presenting as splenic rupture, and for the fi...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/BF01727419
更新日期:1994-03-01 00:00:00
abstract::Rituximab was recently described also as first-line therapy of chronic graft-versus-host disease (cGvHD). We retrospectively analyzed the efficacy and safety of all patients receiving rituximab for treatment of cGvHD between 2005 and 2016 at the Regensburg University transplant center with a median follow-up after rit...
journal_title:Annals of hematology
pub_type: 杂志文章
doi:10.1007/s00277-019-03768-x
更新日期:2019-10-01 00:00:00
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
更新日期:2009-05-01 00:00:00
abstract::MicroRNAs are short noncoding RNAs, known regulators of several signaling pathways cell differentiation and proliferation, development, and apoptosis, which are deregulated in acute leukemia. Mixed lineage leukemia (MLL) gene encodes a protein with histone methyltransferase activity, which is essential for the fine tu...
journal_title:Annals of hematology
pub_type: 杂志文章,评审
doi:10.1007/s00277-013-1803-4
更新日期:2013-11-01 00:00:00