RESUMO
A child with a complicated medical history that included asplenia acquired an infection with Babesia microti in the summer of 2013 and had not travelled outside of Manitoba. Although the clinical findings were subtle, astute laboratory work helped to reach a preliminary identification of Babesia species, while reference laboratory testing confirmed the diagnosis. Blacklegged ticks (Ixodes scapularis) are known to transmit Borrelia burgdorferi and Anaplasma phagocytophilum in the province; however, the present case represents the first known instance of tick-borne B microti, both in Manitoba and in Canada. The expanding territory of the blacklegged tick increases the relevance of this emerging infection. Clinicians, laboratory medical practitioners and public health officials should be aware of B microti as a potential locally acquired infection in Canada.
Un enfant ayant des antécédents médicaux complexes, qui incluaient une asplénie, a contracté une infection à Babesia microti pendant l'été 2013, sans avoir quitté le Manitoba. Même si les résultats cliniques étaient discrets, un travail de laboratoire astucieux a contribué à l'identification préliminaire d'une espèce de Babesia. Le test du laboratoire de référence a confirmé le diagnostic. On sait que les tiques occidentales à pattes noires (Ixodes scapularis) transmettent le Borrelia burgdorferi et l'Anaplasma phagocytophilum dans la province. Le présent cas est toutefois la première occurrence connue de B microti à tique, tant au Manitoba qu'au Canada. L'expansion du territoire de la tique occidentale à pattes noires renforce la pertinence de cette infection émergente. Les cliniciens, les praticiens de laboratoires médicaux et les directeurs de la santé publique devraient savoir que le B microti peut être transmis localement au Canada.
Assuntos
Doença de Hodgkin/diagnóstico , Artralgia/etiologia , Doenças Autoimunes/diagnóstico , Infecções Bacterianas/diagnóstico , Diagnóstico Diferencial , Diarreia/etiologia , Febre/etiologia , Doença de Hodgkin/sangue , Doença de Hodgkin/complicações , Doença de Hodgkin/patologia , Humanos , Hiperbilirrubinemia/etiologia , Tecido Linfoide/patologia , Transtornos Linfoproliferativos/diagnóstico , Masculino , Pessoa de Meia-Idade , Infecções Oportunistas/etiologia , Pancitopenia/etiologia , Síndromes Paraneoplásicas/etiologia , Prurido/etiologia , Doenças Reumáticas/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
This brief report describes an asymptomatic patient with a myocardial mass. Two-dimensional echocardiography, technetium Tc 99m cardiac nuclear scan, and transesophageal echocardiography were performed to define the mass. The mass, which involved the subvalvar right ventricular free wall, was resected and determined to be a metastatic carcinoid tumor by histologic and immunohistochemical analysis. Further investigation revealed the presence of a midgut carcinoid tumor located within the terminal ileum, which was also resected surgically. The patient recovered well after surgery and adjunctive chemotherapy. To our knowledge, this is the first report of comprehensive nuclear and echocardiographic imaging, supplemented by surgical and pathologic findings, in an asymptomatic patient with isolated myocardial metastasis of an ileal carcinoid tumor.
Assuntos
Tumor Carcinoide/secundário , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/secundário , Neoplasias do Íleo/patologia , Disfunção Ventricular Direita/etiologia , Tumor Carcinoide/tratamento farmacológico , Tumor Carcinoide/cirurgia , Angiografia Coronária , Eletrocardiografia , Neoplasias Cardíacas/tratamento farmacológico , Neoplasias Cardíacas/cirurgia , Humanos , Neoplasias do Íleo/tratamento farmacológico , Neoplasias do Íleo/cirurgia , Masculino , Pessoa de Meia-Idade , Ventriculografia com RadionuclídeosRESUMO
Angioimmunoblastic T-cell lymphoma (AITL) is a unique type of peripheral T-cell lymphoma. Patients with AITL may have occasional reactive plasma cells present in the peripheral circulation. Prominent peripheral blood polyclonal plasmacytosis mimicking plasma cell leukemia, however, is distinctly uncommon. Here we describe 3 such cases from two large tertiary medical centers and discuss the role of ancillary studies in the differential diagnosis of peripheral blood plasmacytosis.
Assuntos
Linfadenopatia Imunoblástica/patologia , Leucemia Plasmocitária/patologia , Linfoma de Células T Periférico/patologia , Plasmócitos/patologia , Adulto , Idoso , Contagem de Células Sanguíneas , Diagnóstico Diferencial , Agregação Eritrocítica , Feminino , Citometria de Fluxo , Humanos , Linfadenopatia Imunoblástica/sangue , Linfadenopatia Imunoblástica/imunologia , Imunofenotipagem/métodos , Leucemia Plasmocitária/sangue , Leucemia Plasmocitária/imunologia , Linfoma de Células T Periférico/sangue , Linfoma de Células T Periférico/imunologia , Masculino , Pessoa de Meia-Idade , Plasmócitos/imunologiaRESUMO
Acute myelomonocytic leukemia with eosinophilia is commonly associated with pericentric inversions of chromosome 16, involving the core binding factor beta gene (CBFB) on 16q22 and the myosin heavy chain gene (MYH11) on 16p13. The inv(16)(p13q22) results in a fusion gene comprising the 5'CBFB gene and the 3'MYH11 gene on the short arm of chromosome 16. The fusion gene interferes with the normal transcription of the CBFA/CBFB heterodimer and disrupts myeloid differentiation. The inv(16) is associated with a good prognosis. The inv(16) with deletion of the 3'CBFB region of the gene is a very rare occurrence. Although the number of cases is small, inv(16) with a deleted 3'CBFB seems to be associated with a poorer prognosis than that generally associated with inv(16). Our patient was a 30-year-old man with newly diagnosed acute myeloid leukemia who was found to have a CBFB-MYH11 fusion by reverse transcriptase-polymerase chain reaction. The high blast count and lack of differentiation were not typical for this entity and suggested clonal progression. The initial karyotype by conventional cytogenetic analysis, in all metaphases examined, was 46,XY,del(7)(q32),del(16)(q22). Fluorescence in situ hybridization analysis with a dual-color, break-apart probe corresponding to the CBFB gene locus (Abbott, Des Plaines, IL) showed a derivative chromosome 16 resulting from an inversion of the CBFB gene with a deletion of the 3'CBFB probe region. Oligonucleotide array comparative genetic hybridization analysis was performed on this patient's diagnostic bone marrow DNA referenced to a normal male control DNA by using the DNAarray Heme Profile (CombiMatrix Diagnostics, Irvine, CA) microarray. This analysis showed a 1.2 Mb loss of 16q22.1, which did not include loss of the 3'CBFB gene locus, but rather sequences distal to this locus. The DNAarray Heme Profile results illustrate the importance of microarray in the correct identification of abnormalities that will affect prognosis.
Assuntos
Deleção Cromossômica , Inversão Cromossômica , Cromossomos Humanos Par 16 , Leucemia Mieloide Aguda/genética , Adulto , Hibridização Genômica Comparativa , Humanos , Hibridização in Situ Fluorescente , Masculino , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
Although KIT mutations are present in 20-25% of cases of t(8;21)(q22;q22) acute myeloid leukemia (AML), concurrent development of systemic mastocytosis (SM) is exceedingly rare. We examined the clinicopathologic features of SM associated with t(8;21)(q22;q22) AML in ten patients (six from our institutions and four from published literature) with t(8;21) AML and SM. In the majority of these cases, a definitive diagnosis of SM was made after chemotherapy, when the mast cell infiltrates were prominent. Deletion 9q was an additional cytogenetic abnormality in four cases. Four of the ten patients failed to achieve remission after standard chemotherapy and seven of the ten patients have died of AML. In the two patients who achieved durable remission after allogeneic hematopoietic stem cell transplant, recipient-derived neoplastic bone marrow mast cells persisted despite leukemic remission. SM associated with t(8;21) AML carries a dismal prognosis; therefore, detection of concurrent SM at diagnosis of t(8;21) AML has important prognostic implications.
RESUMO
We describe the validation of a test for the quantification of Epstein-Barr virus (EBV) DNA (viral load) using the Artus EBV TM PCR analyte-specific reagent (ASR; QIAGEN Hamburg, Hamburg, Germany). A dilution series demonstrated a limit of detection of 2.25 log(10) copies/mL (>95% positivity rate). The limit of quantification was 3.90 log(10) copies/mL based on an SD of less than 0.15. The assay was linear from 2.17 to 6.2 log(10) copies/mL. Low (3.70 log(10) copies/mL) and high (5.40 log(10) copies/mL) patient samples had coefficients of variation (CVs) of 2.0% and 1.4%, respectively. The cycle thresholds of 4 points used to generate the standard curve had CVs ranging from 0.8% to 1.6%. A comparison of 35 matched samples showed a small positive bias (0.35 log(10) copies/mL) for the Artus ASR relative to a laboratory-developed EBV viral load assay targeting the Bam H1-W region of the EBV genome.
Assuntos
Infecções por Vírus Epstein-Barr/virologia , Herpesvirus Humano 4/genética , Reação em Cadeia da Polimerase/métodos , Kit de Reagentes para Diagnóstico/normas , Humanos , Reprodutibilidade dos Testes , IncertezaRESUMO
The role of histologic examination in lymphoma diagnosis has been called into question by proponents of new technologies, such as genomics and proteomics. We review the history and salient features of morphologic evaluation in lymphoid diseases, and discuss the general and specific limitations of mature ancillary techniques, such as immunohistochemistry, flow cytometry, and molecular studies. We then speculate on the future relationship between morphology and the new genomic and proteomic technologies as they become integrated into clinical practice.