A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia.

X-linked sideroblastic anemia (XLSA) is a rare hereditary disorder that typically manifests in males as microcytic anemia. Here, we report a family with XLSA that affects females and manifests as macrocytic anemia. The proband was a Japanese woman harboring a heterozygous mutation c.

Co-occurrence of monoclonal gammopathy and myelodysplasia: a retrospective study of fourteen cases.

We report a series of 14 patients with myelodysplastic syndrome (MDS) accompanied by a monoclonal gammopathy unrelated to therapy. Twelve of these had monoclonal gammopathy of undermined significance (MGUS) and two had smoldering multiple myeloma. These cases represent 10.

Absent or extremely low neutrophil alkaline phosphatase activity levels in patients with myelodysplastic syndromes.

Three patients with myelodysplastic syndrome (MDS) had absent or extremely low levels of neutrophil alkaline phosphatase (NAP) activity (arbitrarily defined as an NAP score <10). All patients showed varying degrees of hypogranulation in neutrophil morphology. The NAP activity levels transiently normalized following the administration of granulocyte colony-stimulating factor (G-CSF) in two cases.

Morphologic analysis in myelodysplastic syndromes with del(5q) treated with lenalidomide. A Japanese multiinstitutional study.

Lenalidomide is known to be effective in myelodysplastic syndromes (MDS) with del(5q) in improving anemia and suppressing del(5q) cells. MDS with del(5q) shows increase of nonlobulated megakaryocytes. However, histopathology of MDS with del(5q) treated with lenalidomide has not been fully studied.

Immune pancytopenia associated with a leukemic B-cell tumor carrying t(14;18)(q32;q21) translocation.

We report a 75-year-old man who was initially suggested to have acute leukemia. The hemoglobin level was 3.8 g/dL, white cell count was 7,700/µL with an absence of mature neutrophils and 69.

The duration of functioning of a subcutaneous implantable port for the treatment of hematological tumors: a single institution-based study.

Background: Although subcutaneous implantable ports have been indicated as venous access for chemotherapy, these devices have not been used routinely for hematological tumors.

Methods: Between May 2006 and April 2009, 39 ports were implanted in 37 patients with hematological tumors and 16 ports were implanted in 14 patients with nonhematological tumors. The patients were treated with standard/first-line and/or salvage/second-line or greater chemotherapy, and were prospectively followed until port removal, death, or the end of the study.

Lenalidomide is active in Japanese patients with symptomatic anemia in low- or intermediate-1 risk myelodysplastic syndromes with a deletion 5q abnormality.

Lenalidomide is an immunomodulatory agent recently reported to be effective in the treatment of transfusion-dependent anemia due to low- or intermediate-1 risk myelodysplastic syndromes (MDS) associated with a deletion 5q (del 5q) cytogenetic abnormality. We conducted a multicenter, single-arm clinical trial to evaluate the safety and efficacy of lenalidomide in Japanese patients with anemia in low- or intermediate-1 risk MDS associated with the del 5q cytogenetic abnormality. Eleven patients (5 with transfusion-dependent anemia; 6 with transfusion-independent symptomatic anemia) received once daily oral administrations of 10 mg of lenalidomide for 21 consecutive days in a 28-day treatment cycle.

John Auer and Auer rods; controversies revisited.

John Auer first described needle or rod-shaped intracytoplasmic inclusion bodies in leukemia cells in 1906. Auer rods can be seen in myeloid neoplasms ranging from acute myeloid leukemias (AML) to myelodysplasia, but not in normal or non-neoplastic reactive states. This article briefly describes John Auer's experience and discusses debates on Auer rods, and criticizes their place in the definition of refractory anemia with excess of blasts-2 (RAEB-2) in the WHO classification of the myelodysplastic syndromes (MDS).

Historical review. The light and shadow of Paul Kaznelson: his life and contribution to hematology.

Paul Kaznelson is credited with describing the first case of pure red cell aplasia. He was also known for his contribution to the discovery of the therapeutic role of splenectomy in idiopathic thrombocytopenic purpura. Most of his academic works appeared in 1910s and 1920s, when he used to work in Karl-Ferdinand University in Prague.

Evolving new treatment for myelodysplastic syndromes.

Over the last several years, there has been substantial progress in the definition, diagnosis, and management of myelodysplastic syndromes (MDSs). This progress includes the new World Health Organization classification and the revised standardized response criteria to be applicable to most new compounds, which, taken together with the International Prognostic Scoring System, provide a uniform basis for the management of individual patients. The recent introduction of certain new agents, as well as an apparent increase in the use of stem cell transplantation with a variety of so-called reduced-intensity settings, has indeed raised the hope that we are entering a new era of MDS treatment.

DNA ploidy and cell cycle analyses in the bone marrow cells of patients with megaloblastic anemia using laser scanning cytometry.

Background: Megaloblastic anemias are characterized by several hematopoietic cells with dysplastic nuclear morphology. The analyses of DNA ploidy and cell cycle of these cells are important to understand the property of such diseases.

Methods: As laser scanning cytometry (LSC) is a useful tool to evaluate the morphology of the cells fixed on the slide glass together with the quantitative analysis of the fluorescence information of each cell by rapid scanning of the specimens, the authors examined the DNA ploidy and cell cycle of six cases with megaloblastic anemia using LSC.

A prospective study of cyclosporine A treatment of patients with low-risk myelodysplastic syndrome: presence of CD55(-)CD59(-) blood cells predicts platelet response.

Although immunosuppressive therapy using antithymocyte globulin or cyclosporine A (CSA) is effective in selected patients with low-risk myelodysplastic syndrome, the response rates reported so far are inconsistent, and the indication of immunosuppressive therapy for myelodysplastic syndrome has not been clearly defined. We treated 20 myelodysplastic syndrome patients (17 refractory anemia cases [RA], 2 RA with excess blasts, and one RA with ringed sideroblasts) with 4 mg/kg per day of CSA for 24 weeks. Among the 19 patients evaluated, 10 showed hematologic improvement; 8 patients showed an erythroid response, 6 showed a platelet response, and one showed a neutrophil response.

Angioimmunoblastic T-cell lymphoma initially presenting with replacement of bone marrow and peripheral plasmacytosis.

A 73-year-old man presented with lymphadenopathy, hepatosplenomegaly, and a variety of hematological and immunological abnormalities. The bone marrow was replaced by polymorphic cellular infiltrates containing aggregates of CD10(+) T-cells. Circulating lymphoplasmacytic/immunoblastic cells showed an early plasma cell immunophenotype on flow cytometric analysis.

Interferon-alfa treatment of essential thrombocythemia during pregnancy.

We report on 2 successful pregnancies in a young woman who has essential thrombocythemia. The platelet count remained well controlled with interferon-alfa administration together with acetylsalicylic acid in each pregnancy. The present case and the published series suggest that close monitoring of the platelet count is crucial and that interferon may be the preferred therapeutic option in the management of pregnancy in patients with essential thrombocythemia.

Clinical implications of blast immunophenotypes in myelodysplastic syndromes.

Myelodysplastic syndromes (MDS) are malignant disorders of hematopoietic cells. For many neoplasms, immunophenotype data of the neoplastic cells provide valuable information in clinical practice. However, the clinical values of immunophenotype data have not yet been firmly established for MDS.

Polyclonal proliferation of plasma cells associated with marked hypergammaglobulinemia in an elderly patient.

We describe an 89-year-old woman who presented with prominent plasmacytosis mimicking plasma cell leukemia. The apparent serum M-protein level of > 7 g/dL of gamma mobility was revealed to be a polyclonal increase of immunoglobulins. The plasma cells in the peripheral blood expressed polyclonal surface/cytoplasmic immunoglobulins as well as CD19, CD30, CD38, and CD138 antigens but lacked CD10, CD20, CD25, and CD56.

Association between phenotypic features of blasts and the blast percentage in bone marrow of patients with myelodysplastic syndromes.

Although the blast percentage in the bone marrow (BM) is a key parameter for the classification of myelodysplastic syndromes (MDS), the current blast percentages used to define MDS subtypes have not been shown to have strong biological relevance. We determined the blast phenotypes and examined their relationship with the BM blast percentage in 90 MDS cases. When the BM blast percentage increased, cases whose blasts expressed CD7, CD56 and CD117 increased whereas cases whose blasts expressed CD10, CD11b and CD15 decreased.