Haematologica current issue

Surgical treatment of a foscavir-resistant atypical Cytomegalovirus pneumonia in an allogeneic stem cell transplant recipient

2008-04-30

No association of the hypercoagulable state with sickle cell disease related pulmonary hypertension

2008-04-30

Early-onset haemochromatosis caused by a novel combination of TFR2 mutations(p.R396X/c.1538-2 A>G) in a woman of Italian descent

Gerolami, V., Le Gac, G., Mercier, L., Nezri, M., Berge-Lefranc, J-L., Ferec, C. — 2008-04-30

Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93:e11-13

Charnas, L., Eichler, F., Kohlschuetter, A., Tolar, J., Orchard, P.J. — 2008-04-30

Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report

Meuleman, N., Tondreau, T., Vanhaelen, G., Lagneaux, L., Bron, D. — 2008-04-30

Secondary genomic alterations in non-Hodgkin's lymphomas: tumor-specific profiles with impact on clinical behavior

Bea, S., Campo, E. — 2008-04-30

Lymphoid neoplasms are associated with primary genetic alterations – mainly non-random reciprocal chromosomal translocations – and secondary alterations. In this perspective article, Drs. Bea and Campo discuss the importance of secondary chromosomal alterations in non-Hodgkin’s lymphomas. See related articles on pages 670, 680, and 688.

Molecular basis of thrombocytosis

Cazzola, M. — 2008-04-30

Thrombocytosis can be classified into three major categories: hereditary or familial thrombocytosis, thrombocytosis associated with myeloproliferative and/or myelodysplastic disorders (clonal thrombocytosis), and reactive (secondary) thrombocytosis. In this perspective article, Dr. Cazzola examines the molecular basis of familial thrombocytosis. See related article on page 706.

Interactions between genotype and phenotype in bleeding and thrombosis

Franchini, M., Mannucci, P. M. — 2008-04-30

The clinical phenotypic variability of disorders of blood coagulation is often the result of gene-gene, or gene-environment interactions. Drs. Franchini and Mannucci discuss this only partially understood subject. See related article on page 729.

Characterization of compound 584, an Abl kinase inhibitor with lasting effects

2008-04-30

Secondary resistance to imatinib is observed in patients with chronic myeloid leukemia. This study describes a novel Abl kinase inhibitor with long-lasting effects.

Effects of the aurora kinase inhibitors AZD1152-HQPA and ZM447439 on growth arrest and polyploidy in acute myeloid leukemia cell lines and primary blasts

Walsby, E., Walsh, V., Pepper, C., Burnett, A., Mills, K. — 2008-04-30

Aurora kinase inhibitors are being considered for treatment of acute myeloid leukemia. Findings of this study suggest that two such inhibitors are effective apoptosis-inducing agents in primary myeloid leukemia cells.

Comparative genome profiling across subtypes of low-grade B-cell lymphoma identifies type-specific and common aberrations that target genes with a role in B-cell neoplasia

2008-04-30

Low-grade B-cell lymphomas are very heterogeneous. This study of comparative genome profiling identifies type-specific aberrations that target genes with a role in B-cell lymphoid neoplasms. See related perspective article on page 641.

Genomic aberrations in mantle cell lymphoma detected by interphase fluorescence in situ hybridization. Incidence and clinicopathological correlations

2008-04-30

The primary genetic alteration of mantle cell lymphoma is a t(11;14)(q13;q32). Findings of this study provide novel insights into the pathogenesis of this lymphoid neoplasm, and in particular indicate that loss of chromosome 13q14 has additional prognostic relevance. See related perspective article on page 641.

Gain of chromosome region 18q21 including the MALT1 gene is associated with the activated B-cell-like gene expression subtype and increased BCL2 gene dosage and protein expression in diffuse large B-cell lymphoma

2008-04-30

Diffuse large B-cell lymphoma is the most common lymphoma worldwide. Recent studies of gene expression profiling have identified subgroups of this lymphoid neoplasm with different prognosis. This study suggests that a gain of chromosome 18q21 including the MALT1 gene may involve an unfavorable prognosis. See related perspective article on page 641.

Selective influences in the expressed immunoglobulin heavy and light chain gene repertoire in hairy cell leukemia

2008-04-30

Hairy cell leukemia is a rare, chronic B-cell neoplasm characterized by leukemic hairy cells. This immunogenetic analysis of the expressed immunoglobulin heavy ad light chain gene repertoire suggests that immunoglobulin gene selection may play an important role in the pathognesis of this neoplasm.

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family

2008-04-30

Familial thrombocytosis may be associated with gain-of-function mutations in the thrombopoietin (THPO) gene, or an activating germline mutation of MPL, the gene encoding thrombopoietin receptor. This study of a large family with thrombocytosis associated with a germline THPO mutations illustrates the hematologic and clinical features of this rare condition. See related article on page 646.

Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians

2008-04-30

Factor XI deficiency is a rare autosomal recessive coagulopathy worldwide, although relatively common in Ashkenazi Jews. This study describes the presence of the F11 gene mutations in the Italian population and confirms their Jewish origin.

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

2008-04-30

This study reports a wide spectrum of factor 8 mutations in the large Italian database. Findings of the study indicate hat the type of mutations is a strong predictor of the clinical phenotype.

AB0 blood group and risk of venous or arterial thrombosis in carriers of factor V Leiden or prothrombin G20210A polymorphisms

2008-04-30

Several studies have shown an effect of AB0 blood group on hemostasis. Findings of this study indicate that non-00 group increases the risk and severity of venous thrombosis in carriers of prothrombotic polysmorphisms. See related perspective article on page 649.

Follow-up of healthy donors receiving granulocyte colony-stimulating factor for peripheral blood progenitor cell mobilization and collection. Results of the Spanish Donor Registry

2008-04-30

Information about the long-term follow-up and safety of granulocyte colony-stimulating factor administration to healthy donors is limited. Findings of this study indicate that clinical side effects are generally mild, and that development of secondary hematologic malignancy is unlikely.

Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders

2008-04-30

Three iron chelators are currently available for treatment of transfusion iron overload: deferoxamine, deferiprone, and deferasirox. This article reports the Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders.

Deficiency of heme-regulated eIF2{alpha} kinase decreases hepcidin expression and splenic iron in HFE-/- mice

Liu, S., Suragani, R. N.V.S., Han, A., Zhao, W., Andrews, N. C., Chen, J.-J. — 2008-04-30

Heme-regulated eIF2 balances heme and globin production by controlling globin synthesis. Its deficiency affects the phenotype of HFE^–/– mice by further decreasing hepcidin expression.

Sickle cell disease-related organ damage occurs irrespective of pain rate: implications for clinical practice

2008-04-30

This study shows that clinically relevant forms of organ damage occur irrespective of the frequency of painful crises in adults with sickle cell disease.

Anemia management in patients on peritoneal dialysis: efficacy and safety of epoetin {delta}

Spinowitz, B. S. — 2008-04-30

In this clinical trial, subcutaneously administered epoetin was effective and well tolerated for treatment of anemia in patients on peritoneal dialysis.

Phospho-CRKL monitoring for the assessment of BCR-ABL activity in imatinib-resistant chronic myeloid leukemia or Ph+ acute lymphoblastic leukemia patients treated with nilotinib

2008-04-30

Findings of this study suggest that monitoring the actual BCR-ABL inhibition in nilotinib treated patients may be useful for establishing effective dosing and for detecting resistance against the drug.

Front-line treatment of Philadelphia positive chronic myeloid leukemia with imatinib and interferon-{alpha}: 5-year outcome

2008-04-30

This study confirms the excellent response to imatinib front-line therapy in patients with chronic myeloid leukemia. By contrast, most patients discontinued pegylated interferon- due to its side effects.

Cytoplasmic mutated nucleophosmin is stable in primary leukemic cells and in a xenotransplant model of NPMc+ acute myeloid leukemia in SCID mice

2008-04-30

Findings of this study indicate that NPM1 mutations are stable in patients with acute myeloid leukemia, providing a rationale for monitoring of minimal residual disease.

Clinical and demographic characteristics of Epstein-Barr virus-associated childhood Burkitt's lymphoma in Southeastern Brazil: epidemiological insights from an intermediate risk region

2008-04-30

This report describes clinical and demographic characteristics of Epstein-Barr virus-associated childhood Burkitt’s lymphoma in Southeastern Brazil.

A cross-sectional magnetic resonance imaging assessment of organ specific hemosiderosis in 180 thalassemia major patients in Hong Kong

2008-04-30

The Janus kinase 2 (JAK2) V617F mutation in Chinese patients with chronic myeloproliferative disorders

Xiao, Z., Zhang, Y., Li, L., Nie, L., Yang, L., Xu, S. — 2008-04-30

A prospective study of the separate predictive capabilities of 18[F]-FDG-PET and molecular response in patients with relapsed indolent non-Hodgkin's lymphoma following treatment with iodine-131-rituximab radio-immunotherapy

2008-04-30

Confirmation of the utility of the International Staging System and identification of a unique pattern of disease in Brazilian patients with multiple myeloma

2008-04-30

Serum-free light chain elevation is associated with a shorter time to treatment in Waldenstrom's macroglobulinemia

2008-04-30

No evidences for B-cell clonality by spectratyping analysis in patients with idiopathic thrombocytopenic purpura undergoing rituximab therapy

2008-04-30

A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia

2008-04-30

A natural variant with a point mutation resulting in a homozygous Arg to His substitution at position 388 in prothrombin

2008-04-30