Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

Abstract:

:We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset.

journal_name

Haematologica

journal_title

Haematologica

authors

Bento MC,Chang KT,Guan Y,Liu E,Caldas G,Gatti RA,Prchal JT

keywords:

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

128-9

issue

1

eissn

0390-6078

issn

1592-8721

journal_volume

90

pub_type

信件
  • Familial lymphoid neoplasms in patients with mantle cell lymphoma.

    abstract:BACKGROUND AND OBJECTIVES:Familial aggregation has been recognized in patients with several lymphoid neoplasms, but the genetic basis for this familial clustering is not known. Germ-line mutations in the ataxia-telangiectasia mutated (ATM) and CHK2 genes have been detected in patients with mantle cell lymphoma (MCL), s...

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    doi:

    authors: Tort F,Camacho E,Bosch F,Harris NL,Montserrat E,Campo E

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  • Long-term results of treatment of childhood and adolescent Hodgkin's disease in 73 patients: the experience of the Departments of Radiology and Hematology of the University of Rome "La Sapienza".

    abstract:PURPOSE:Various experiences show no substantial differences between children and adults in the treatment of Hodgkin's disease. In consideration of some peculiar characteristics of these cases which might influence the therapeutical choice, particularly regarding long-term survival and therapeutical complications, we re...

    journal_title:Haematologica

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    doi:

    authors: Enrici RM,Anselmo AP,Osti MF,Sbarbati S,Tombolini V,Cartoni C,Mandelli F,Biagini C

    更新日期:1996-05-01 00:00:00

  • Quantitatively different red cell/nucleated cell chimerism in patients with long-term, persistent hematopoietic mixed chimerism after bone marrow transplantation for thalassemia major or sickle cell disease.

    abstract:BACKGROUND:Persistent mixed chimerism represents a state in which recipient and donor cells stably co-exist after hematopoietic stem cell transplantation. However, since in most of the studies reported in literature the engraftment state was observed in the nucleated cells, in this study we determined the donor origin ...

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    doi:10.3324/haematol.2010.031013

    authors: Andreani M,Testi M,Gaziev J,Condello R,Bontadini A,Tazzari PL,Ricci F,De Felice L,Agostini F,Fraboni D,Ferrari G,Battarra M,Troiano M,Sodani P,Lucarelli G

    更新日期:2011-01-01 00:00:00

  • The role of lactadherin in the phagocytosis of phosphatidylserine-expressing sickle red blood cells by macrophages.

    abstract::Lactadherin is a phosphatidylserine-binding glycoprotein secreted by macrophages. Less than 0.5% of normal circulating red cells showed any binding to lactadherin. However, the red cells from patients with sickle cell disease showed 2 to 10-fold increases in lactadherin binding. Further, lactadherin stimulated the pha...

    journal_title:Haematologica

    pub_type: 信件

    doi:

    authors: Dasgupta SK,Thiagarajan P

    更新日期:2005-09-01 00:00:00

  • Using quantification of the PML-RARalpha transcript to stratify the risk of relapse in patients with acute promyelocytic leukemia.

    abstract:BACKGROUND AND OBJECTIVES:The detection of PML-RARalpha by real-time polymerase chain reaction (RQ-PCR) is becoming an important tool for monitoring minimal residual disease (MRD) in patients with acute promyelocytic leukemia (APL). However, its clinical value remains to be determined. Our aim was to analyze any associ...

    journal_title:Haematologica

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    doi:10.3324/haematol.10734

    authors: Santamaría C,Chillón MC,Fernández C,Martín-Jiménez P,Balanzategui A,García Sanz R,San Miguel JF,González MG

    更新日期:2007-03-01 00:00:00

  • Resolution of bone marrow fibrosis in a patient receiving JAK1/JAK2 inhibitor treatment with ruxolitinib.

    abstract:UNLABELLED:Ruxolitinib, a JAK1/JAK2 inhibitor, is currently the only pharmacological agent approved for the treatment of myelofibrosis. Approval was based on findings from two phase 3 trials comparing ruxolitinib with placebo (COMFORT-I) and with best available therapy (COMFORT-II) for the treatment of primary or secon...

    journal_title:Haematologica

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.3324/haematol.2013.095109

    authors: Wilkins BS,Radia D,Woodley C,Farhi SE,Keohane C,Harrison CN

    更新日期:2013-12-01 00:00:00

  • The fusion proteins TEL-PDGFRbeta and FIP1L1-PDGFRalpha escape ubiquitination and degradation.

    abstract:BACKGROUND:Chimeric oncogenes encoding constitutively active protein tyrosine kinases are associated with chronic myeloid neoplasms. TEL-PDGFRbeta (TPbeta, also called ETV6-PDGFRB) is a hybrid protein produced by the t(5;12) translocation, FIP1L1-PDGFRalpha (FPalpha) results from a deletion on chromosome 4q12 and ZNF19...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2008.001149

    authors: Toffalini F,Kallin A,Vandenberghe P,Pierre P,Michaux L,Cools J,Demoulin JB

    更新日期:2009-08-01 00:00:00

  • Bone marrow endothelial cell-derived interleukin-4 contributes to thrombocytopenia in acute myeloid leukemia.

    abstract::Normal hematopoiesis can be disrupted by the leukemic bone marrow microenvironment, which leads to cytopenia-associated symptoms including anemia, hemorrhage and infection. Thrombocytopenia is a major and sometimes fatal complication in patients with acute leukemia. However, the mechanisms underlying defective thrombo...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2018.214593

    authors: Gao A,Gong Y,Zhu C,Yang W,Li Q,Zhao M,Ma S,Li J,Hao S,Cheng H,Cheng T

    更新日期:2019-10-01 00:00:00

  • Immunoablation followed by autologous hematopoietic stem cell infusion for the treatment of severe autoimmune disease.

    abstract:BACKGROUND AND OBJECTIVES:The aim of this study was to evaluate the tolerability and effectiveness of a non-myeloablative conditioning regimen followed by autologous hematopoietic stem cell infusion for the treatment of severe autoimmune diseases. DESIGN AND METHODS:From 1996 patients with severe autoimmune disease no...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Rabusin M,Andolina M,Maximova N,Lepore L,Parco S,Tuveri G,Jankovic G

    更新日期:2000-11-01 00:00:00

  • Monoclonal expansion of large granular lymphocytes with a CD4+ CD8dim+/- phenotype associated with hairy cell leukemia.

    abstract::Peripheral blood lymphoid cell expansions with an unusual CD3+, CD4+, CD8dim+/-, CD11b+, CD57+ immunophenotype have recently been reported. They frequently have the morphology of large granular lymphocytes (LGL) and can be either monoclonal or polyclonal. Their significance is still unclear and no association with hem...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Airò P,Rossi G,Facchetti F,Marocolo D,Garza L,Lanfranchi A,Prati E,Brugnoni D,Malacarne F,Cattaneo R

    更新日期:1995-03-01 00:00:00

  • Reduced intensity haplo plus single cord transplant compared to double cord transplant: improved engraftment and graft-versus-host disease-free, relapse-free survival.

    abstract::Umbilical cord blood stem cell transplants are commonly used in adults lacking HLA-identical donors. Delays in hematopoietic recovery contribute to mortality and morbidity. To hasten recovery, we used co-infusion of progenitor cells from a partially matched related donor and from an umbilical cord blood graft (haplo-c...

    journal_title:Haematologica

    pub_type: 临床试验,杂志文章

    doi:10.3324/haematol.2015.138594

    authors: van Besien K,Hari P,Zhang MJ,Liu HT,Stock W,Godley L,Odenike O,Larson R,Bishop M,Wickrema A,Gergis U,Mayer S,Shore T,Tsai S,Rhodes J,Cushing MM,Korman S,Artz A

    更新日期:2016-05-01 00:00:00

  • Acute nonlymphocytic leukemia in the elderly: results of a retrospective study.

    abstract::Seventy-four patients over 60 years of age with new cases of ANLL diagnosed between January, 1980 and December, 1986 were retrospectively evaluated. Twenty-nine (median age 63, range 60-70) received aggressive induction polychemotherapy: 15 achieved CR (52%), 10 were resistant (34.5%) and 4 died during induction (13.5...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Latagliata R,Sgadari C,Pisani F,Falconi M,Spadea A,Vegna ML,Petti MC

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  • Long-term cost-effectiveness of low molecular weight heparin versus unfractionated heparin for the prophylaxis of venous thromboembolism in elective hip replacement.

    abstract:BACKGROUND AND OBJECTIVE:Either low molecular weight heparin (LMWH) or unfractionated heparin (UH) may be used for the prophylaxis of post-operative venous thromboembolic disease (VTD) in elective hip replacement. This study was aimed at assessing the cost-effectiveness of LMWH over UH from the society perspective, whi...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Marchetti M,Liberato NL,Ruperto N,Barosi G

    更新日期:1999-08-01 00:00:00

  • Pediatric acute lymphoblastic leukemia.

    abstract::The last decade has witnessed great advances in our understanding of the genetic and biological basis of childhood acute lymphoblastic leukemia (ALL), the development of experimental models to probe mechanisms and evaluate new therapies, and the development of more efficacious treatment stratification. Genomic analyse...

    journal_title:Haematologica

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    doi:10.3324/haematol.2020.247031

    authors: Inaba H,Mullighan CG

    更新日期:2020-11-01 00:00:00

  • Plasma thrombomodulin concentrations in infants and children undergoing cardiac catheterization.

    abstract::Circulating plasma thrombomodulin (TM) is an endothelial cell marker which may reflect endothelial injury. To find out to what extent diagnostic cardiac catheterization irritates vascular endothelium we conducted a prospective study in 91 children. Soluble TM concentrations, along with thrombin generation, were measur...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Vielhaber H,Kehl HG,Kececioglu D,Nowak-Göttl U

    更新日期:1996-09-01 00:00:00

  • Long-term results of a risk-adapted approach to melphalan conditioning in autologous peripheral blood stem cell transplantation for primary (AL) amyloidosis.

    abstract:BACKGROUND AND OBJECTIVES:High-dose melphalan with autologous peripheral blood stem cell transplantation (ASCT) is an effective treatment for systemic primary amyloidosis. This procedure is, however, associated with substantial toxicity and mortality, particularly if the heart is involved. Refined selection of patients...

    journal_title:Haematologica

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    doi:

    authors: Perfetti V,Siena S,Palladini G,Bregni M,Di Nicola M,Obici L,Magni M,Brunetti L,Gianni AM,Merlini G

    更新日期:2006-12-01 00:00:00

  • Resolving T-cell receptor clonality in two and genotype in four multiplex polymerase chain reactions.

    abstract:BACKGROUND AND OBJECTIVES:The diagnosis of T-cell neoplasia requires the use of immunohistochemistry on tumor sections or molecular genetic analysis of T-cell receptor (TCR) clonality. Multiplex polymerase chain reactions (PCR) offer a sensitive and expeditious approach to determining clonality early in the diagnostic ...

    journal_title:Haematologica

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    doi:

    authors: Dictor M,Warenholt J,Isinger A

    更新日期:2005-11-01 00:00:00

  • The hematopoietic stem cell transplantation comorbidity index is of prognostic relevance for patients with myelodysplastic syndrome.

    abstract::We studied the impact of comorbidities on survival and evaluated the prognostic utility of comorbidity scores in MDS patients, who received best supportive care and were assessable according to the Charlson Comorbidity Index (CCI) and the Hematopoietic Stem Cell Transplantation Comorbidity Index (HCTCI): 171 patients ...

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    更新日期:2009-05-01 00:00:00

  • Fludarabine and cytarabine as continuous sequential infusion for elderly patients with acute myeloid leukemia.

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    journal_title:Haematologica

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    doi:

    authors: Ferrara F,D'Arco AM,De Simone M,Mele G,Califano C,Pocali B,Danise P,Palmieri S

    更新日期:2005-06-01 00:00:00

  • Low RPS14 expression is common in myelodysplastic syndromes without 5q- aberration and defines a subgroup of patients with prolonged survival.

    abstract::To further clarify the role of ribosomal protein S14 (RPS14) in myelodysplastic syndrome, we examined RPS14 transcription in bone marrow derived CD34+ cells from patients with non-5q- myelodysplastic syndrome and found a reduced expression of RPS14 in 51 of 72 (71%) patients. MDS patients with an intermediate-1 risk (...

    journal_title:Haematologica

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    doi:10.3324/haematol.2009.008508

    authors: Czibere A,Bruns I,Junge B,Singh R,Kobbe G,Haas R,Germing U

    更新日期:2009-10-01 00:00:00

  • Glucocorticoids and selumetinib are highly synergistic in RAS pathway-mutated childhood acute lymphoblastic leukemia through upregulation of BIM.

    abstract::New drugs are needed for the treatment of relapsed acute lymphoblastic leukemia and preclinical evaluation of the MEK inhibitor, selumetinib, has shown that this drug has excellent activity in those leukemias with RAS pathway mutations. The proapoptotic protein, BIM is pivotal in the induction of cell death by both se...

    journal_title:Haematologica

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    doi:10.3324/haematol.2017.185975

    authors: Matheson EC,Thomas H,Case M,Blair H,Jackson RK,Masic D,Veal G,Halsey C,Newell DR,Vormoor J,Irving JAE

    更新日期:2019-09-01 00:00:00

  • Abnormal neutrophil chemotaxis in bone marrow transplant patients correlates with impaired 31D8 monoclonal antibody binding.

    abstract:BACKGROUND:31D8 monoclonal antibody (mAb) has been shown to bind heterogeneously to human neutrophils, identifying subsets of cells which differ in their functional response to chemotactic stimuli. In this study we used 31D8 mAb to determine whether differences in neutrophil subpopulations might explain the long-lastin...

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    doi:

    authors: Capsoni F,Minonzio F,Carbonelli V,Ongari AM,Mocellin MC,Soligo D,Annaloro C,Della Volpe A,Lambertenghi Dliliers G

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  • Double versus single autotransplantation in multiple myeloma; a single center experience of 100 patients.

    abstract::One hundred patients with newly diagnosed multiple myeloma (MM) were treated with high-dose chemotherapy followed by single or double autologous stem cell transplantation (ASCT). Up-front treatment with a double ASCT tended to prolong progression-free and overall survival. ...

    journal_title:Haematologica

    pub_type: 信件

    doi:

    authors: Putkonen M,Rauhala A,Itälä M,Kauppila M,Pelliniemi TT,Remes K

    更新日期:2005-04-01 00:00:00

  • Human leukocyte antigen supertype matching after myeloablative hematopoietic cell transplantation with 7/8 matched unrelated donor allografts: a report from the Center for International Blood and Marrow Transplant Research.

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    doi:10.3324/haematol.2016.143271

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    更新日期:2016-10-01 00:00:00

  • Myeloma plasma cells alter the bone marrow microenvironment by stimulating the proliferation of mesenchymal stromal cells.

    abstract::Multiple myeloma is an incurable hematologic cancer characterized by the clonal proliferation of malignant plasma cells within the bone marrow. Numerous studies suggest that the myeloma plasma cells occupy and alter the stromal tissue of the bone marrow as a means of enhancing their survival and growth. However, the n...

    journal_title:Haematologica

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    doi:10.3324/haematol.2013.090977

    authors: Noll JE,Williams SA,Tong CM,Wang H,Quach JM,Purton LE,Pilkington K,To LB,Evdokiou A,Gronthos S,Zannettino AC

    更新日期:2014-01-01 00:00:00

  • Chronic inflammatory disease, lymphoid tissue neogenesis and extranodal marginal zone B-cell lymphomas.

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    journal_title:Haematologica

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    doi:10.3324/haematol.2009.005983

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    更新日期:2009-08-01 00:00:00

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    abstract::Multiple myeloma management has undergone profound changes in the past thanks to advances in our understanding of the disease biology and improvements in treatment and supportive care approaches. This article presents recommendations of the European Myeloma Network for newly diagnosed patients based on the GRADE syste...

    journal_title:Haematologica

    pub_type: 杂志文章,实务指引

    doi:10.3324/haematol.2013.099358

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    更新日期:2014-02-01 00:00:00

  • Transition from fresh frozen plasma to solvent/detergent plasma in the Netherlands: comparing clinical use and transfusion reaction risks.

    abstract::Plasma transfusion is indicated for replenishment of coagulative proteins to stop or prevent bleeding. In 2014, the Netherlands switched from using ~300mL fresh frozen plasma (FFP) units to using 200mL Omniplasma, a solvent/detergent treated pooled plasma (SD plasma), units. We evaluated the effect of the introduction...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2019.222083

    authors: Saadah NH,Schipperus MR,Wiersum-Osselton JC,van Kraaij MG,Caram-Deelder C,Beckers EAM,Leyte A,Rondeel JMM,de Vooght KMK,Weerkamp F,Zwaginga JJ,van der Bom JG

    更新日期:2020-04-01 00:00:00

  • Dendritic cells: specialized antigen presenting cells.

    abstract::Renewing interest in cancer immunotherapy reflects the excellent results that have been obtained in animal models and the promising results in early clinical trails with dendritic cell (DC) based approaches. The central role that DCs play in the initiation of an immune response raises the possibility of using them to ...

    journal_title:Haematologica

    pub_type: 杂志文章,评审

    doi:

    authors: Di Nicola M,Lemoli RM

    更新日期:2000-02-01 00:00:00

  • Serine protease detection in mixed lymphocyte cultures: a histochemical method for possible prediction of graft-versus-host disease.

    abstract:BACKGROUND AND OBJECTIVE:Graft-versus-host disease (GVHD) presents an important complication of allogeneic bone marrow transplantation. A method to predict GVHD might be the analysis of cytotoxic T lymphocyte precursors, but the technique requires the use of radioactive elements not suitable in all laboratories. DESIG...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Maiocchi MA,Nano R,Capelli E,Bonfichi M,Alessandrino EP,Bernasconi P

    更新日期:1998-08-01 00:00:00