Assuntos
Fatores Imunológicos/uso terapêutico , Interferon-alfa/uso terapêutico , Complicações Hematológicas na Gravidez/tratamento farmacológico , Trombocitemia Essencial/tratamento farmacológico , Adulto , Feminino , Humanos , Fatores Imunológicos/administração & dosagem , Fatores Imunológicos/efeitos adversos , Injeções Subcutâneas , Interferon-alfa/administração & dosagem , Interferon-alfa/efeitos adversos , Contagem de Plaquetas , Gravidez , Complicações Hematológicas na Gravidez/sangue , Complicações Hematológicas na Gravidez/imunologia , Nascimento a Termo , Trombocitemia Essencial/sangue , Trombocitemia Essencial/imunologia , Adulto JovemRESUMO
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.679C>T in the ALAS2 gene. This mutation causes the amino acid substitution R227C, which disrupts the enzymatic activity of erythroid-specific δ-aminolevulinic acid synthase. The mutation was not detected in the ALAS2 complementary DNA from peripheral blood red blood cells of the proband, indicating that the cells were mostly derived from erythroblasts expressing wild-type ALAS2. The proband's mother, who had been diagnosed with myelodysplastic syndrome, also had XLSA with the same mutation. Clinicians should be aware that XLSA can occur not only in males but also in females, in whom it manifests as macrocytic anemia.
Assuntos
Anemia Sideroblástica/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , 5-Aminolevulinato Sintetase/genética , Anemia Macrocítica/diagnóstico , Povo Asiático , Diagnóstico Diferencial , Saúde da Família , Feminino , Humanos , Masculino , Linhagem , Mutação PuntualRESUMO
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 10.2 % of all MDS cases seen at our institution over a 14-year period (January 2000 to December 2013). The incidence of MGUS was determined to be significantly higher in MDS than in age-matched concurrent controls by χ(2) test. Absence of prior chemotherapy and simultaneous presentation of MDS and MGUS in most cases suggest true co-occurrence of the two disorders. MGUS was found in all WHO subtypes of MDS with a wide range of risk factors. However, 11 out of the 12 MDS cases accompanied with MGUS had relatively low karyotypic risks. In addition, serum M protein levels remained largely unchanged in 4 cases of MGUS for which serial determinations were performed. These findings indicate that MGUS may not affect the prognosis of MDS.
Assuntos
Síndromes Mielodisplásicas/complicações , Paraproteinemias/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Medula Óssea/patologia , Estudos de Casos e Controles , Progressão da Doença , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Gamopatia Monoclonal de Significância Indeterminada/complicações , Gamopatia Monoclonal de Significância Indeterminada/diagnóstico , Gamopatia Monoclonal de Significância Indeterminada/epidemiologia , Gamopatia Monoclonal de Significância Indeterminada/imunologia , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/tratamento farmacológico , Síndromes Mielodisplásicas/epidemiologia , Síndromes Mielodisplásicas/imunologia , Paraproteinemias/diagnóstico , Paraproteinemias/epidemiologia , Fenótipo , Estudos Retrospectivos , Fatores de Risco , Adulto JovemRESUMO
We herein describe an unusual case of multicentric Castleman's disease accompanied by thrombocytopenia, ascites, renal failure and myelofibrosis in a Japanese woman. The patient was initially diagnosed as having myelodysplastic syndrome with myelofibrosis. The general condition of the patient deteriorated rapidly; however, treatment with tocilizumab, an anti-interleukin-6 receptor antibody, together with corticosteroids dramatically improved her symptoms. The clinical features of this case were similar to those of three cases previously reported by Takai et al. (Rinsho Ketsueki, 2010, 51:320-5), which were determined to be thrombocytopenia, anasarca, fever, reticulin myelofibrosis and organomegaly (TAFRO) syndrome, a possibly distinct clinical entity.
Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Ascite/tratamento farmacológico , Hiperplasia do Linfonodo Gigante/tratamento farmacológico , Mielofibrose Primária/tratamento farmacológico , Receptores de Interleucina-6/antagonistas & inibidores , Insuficiência Renal/tratamento farmacológico , Trombocitopenia/tratamento farmacológico , Anticorpos Monoclonais/uso terapêutico , Ascite/complicações , Ascite/diagnóstico , Hiperplasia do Linfonodo Gigante/complicações , Hiperplasia do Linfonodo Gigante/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Mielofibrose Primária/complicações , Mielofibrose Primária/diagnóstico , Insuficiência Renal/complicações , Insuficiência Renal/diagnóstico , Trombocitopenia/complicações , Trombocitopenia/diagnóstico , Resultado do TratamentoRESUMO
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. No patients experienced any severe infectious episodes. These results suggest that NAP activity is not central to the neutrophil function.
Assuntos
Fosfatase Alcalina/deficiência , Fosfatase Alcalina/metabolismo , Síndromes Mielodisplásicas/enzimologia , Neutrófilos/enzimologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , MasculinoRESUMO
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 69.0% leukemic cells, and platelet was 0.4 × 10(4)/µL. Coombs' antiglobulin test was positive. Leukemic cells were CD5(-), CD10(+), CD20(+), CD23(-), and IgG/λ(dim+). The bone marrow consisted of normal hematopoietic precursors, whereas fluorescence in situ hybridization detected the BCL2/IgH fusion gene. He was treated with rituximab-containing chemotherapy, resulting in the resolution of pancytopenia. The underlying disease was a leukemic B-cell tumor with t(14;18)(q32;q21), and the pancytopenia was mainly caused by autoimmune mechanisms.
Assuntos
Doenças Autoimunes/etiologia , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 18/genética , Leucemia de Células B/complicações , Leucemia de Células B/genética , Pancitopenia/etiologia , Translocação Genética/genética , Idoso , Anticorpos Monoclonais Murinos/uso terapêutico , Antineoplásicos/uso terapêutico , Doenças Autoimunes/diagnóstico , Humanos , Leucemia de Células B/tratamento farmacológico , Masculino , Pancitopenia/diagnóstico , Rituximab , Resultado do TratamentoRESUMO
CHOP (cyclophosphamide, adriamycin, vincristine, and prednisolone) plus rituximab is a standard chemotherapy used to treat patients with aggressive B-cell non-Hodgkin lymphoma (B-NHL). However, among elderly patients, this regimen has not been completely satisfactory in its efficacy and safety. We report our clinical experience in 8 collaborative institutions to determine if the VNCOP-B (etoposide, mitoxantrone, cyclophosphamide, vincristine, prednisolone, and bleomycin) combination therapy plus rituximab was effective and safe to treat elderly patients with aggressive B-NHL. Between September 2004 and December 2007, 23 previously untreated patients, median age 73 years, 50.0% classified as high-intermediate/high-risk on the standard International Prognostic Index (IPI) entered this trial. Complete remission rate was 90.5%, with a 100% overall response rate (RR) at the end of induction therapy; overall survival (OS) rate at 3 years was 76.4% (median follow-up 744 days), with an 82.6% 3-year progression-free survival (PFS) rate (median follow-up 744 days). The most common grade 3/4 toxicities were hematologic, including neutropenia in 75.0% of the patients despite prophylactic administration of granulocyte colony-stimulating factor (G-CSF), febrile neutropenia in 30.0%, respectively. There was no treatment-related mortality (TRM). Rituximab not only combined with chemotherapy but also given sequentially improved survival. R-VNCOP-B could be another option for elderly patients who are not considered to tolerate in receiving R-CHOP.
Assuntos
Anticorpos Monoclonais Murinos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma de Células B/tratamento farmacológico , Idoso , Idoso de 80 Anos ou mais , Anticorpos Monoclonais Murinos/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Bleomicina/efeitos adversos , Bleomicina/uso terapêutico , Ciclofosfamida/efeitos adversos , Ciclofosfamida/uso terapêutico , Etoposídeo/efeitos adversos , Etoposídeo/uso terapêutico , Feminino , Fator Estimulador de Colônias de Granulócitos/uso terapêutico , Humanos , Linfoma de Células B/mortalidade , Masculino , Mitoxantrona/efeitos adversos , Mitoxantrona/uso terapêutico , Neutropenia/induzido quimicamente , Prednisona/efeitos adversos , Prednisona/uso terapêutico , Indução de Remissão , Rituximab , Vincristina/efeitos adversos , Vincristina/uso terapêuticoRESUMO
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. Combination of these observations indicated that the underlying disorder of this patient was angioimmunoblastic T-cell lymphoma (AITL); postmortem pathology was consistent with progression of peripheral T-cell lymphoma. Even in the absence of definitive lymph node biopsy, the appearance of the bone marrow and the peripheral blood can lead to the diagnosis of AITL.
Assuntos
Medula Óssea/patologia , Linfadenopatia Imunoblástica/patologia , Linfoma de Células T Periférico/patologia , Plasmócitos/patologia , Idoso , Autopsia , Biópsia por Agulha , Diagnóstico Diferencial , Progressão da Doença , Evolução Fatal , Humanos , Linfadenopatia Imunoblástica/diagnóstico , Imuno-Histoquímica , Linfoma de Células T Periférico/diagnóstico , Masculino , Medição de Risco , Índice de Gravidade de DoençaRESUMO
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.
Assuntos
Anticoagulantes/uso terapêutico , Fatores Imunológicos/uso terapêutico , Interferon-alfa/uso terapêutico , Complicações Hematológicas na Gravidez/tratamento farmacológico , Trombocitemia Essencial/tratamento farmacológico , Adulto , Aspirina/uso terapêutico , Quimioterapia Combinada , Feminino , Doenças Fetais/prevenção & controle , Humanos , Recém-Nascido , Masculino , Contagem de Plaquetas , Gravidez , Resultado da Gravidez , Tromboembolia/prevenção & controleRESUMO
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. The bone marrow plasma cells showed the CD45+, CD19+, CD56-, MPC-1(-/+), and CD49e- immunophenotype, which was in clear contrast with the immunophenotypes of the neoplastic myeloma cells. Abdominal lymphadenopathy, splenomegaly, and a high level of soluble interleukin 2 receptor may have been reflections of an underlying lymphoproliferative disorder, potentially leading to the polyclonal proliferation of plasma cells.
Assuntos
Hipergamaglobulinemia/imunologia , Hipergamaglobulinemia/patologia , Plasmócitos/citologia , Idoso , Idoso de 80 Anos ou mais , Divisão Celular/imunologia , Evolução Fatal , Feminino , HumanosRESUMO
We experienced the VNCOP-B (etoposide, mitoxantrone, cyclophosphamide, vincristine, predonisolone, bleomycin) combination regimen for the treatment of elderly patients with aggressive non-Hodgkin lymphoma (NHL) in a multicenter study by 6 collaborative institutions. Patients were previously untreated > or = 60 years of age and received prophylactic G-CSF. Twenty patients entered this trial, and all of them were evaluated for feasibility, toxicity, and efficacy. The complete remission rate was 75.0%, with a 100% overall response rate; overall survival (OS) rate at 3 years was 79.1% (median follow up 761.5 days), with a 60.7% progression-free 3-year survival (PFS) rate (median follow-up 600.0 days). Our trial was promising and well-tolerated. According to IPI, high/high-intermediate risk was associated with significantly worse OS and PFS than low/low-intermediate risk (2-year OS: 51.8% versus 100.0%, p=0.0118; 2-year PFS: 33.3% versus 80.0%, p=0.0125). Grade 3/4 infections occurred in 3 patients, but no patients experienced it with predonisolone reduced.