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Mutação MYD88 L265P no diagnóstico diferencial entre Linfoma Linfoplasmacítico/Macroglobulinemia de Waldenstrom vs Linfoma Esplénico da Zona Marginal- estudo retrospetivo
Get PDFIntrodução: A Macroglobulinémia de Waldenström (MW) é um sindrome linfoproliferativo de células B raro, caracterizado pela acumulação descontrolada de Imunoglobulinas do tipo M (IgM), que são secretadas pelas células linfoplasmocíticas. Recentemente foi identificada uma mutação somática (L265P) no gene de diferenciação mielóide de resposta primária 88 (MYD88) em 80-100% das MW e em 50-80% das Gamapatias Monoclonais de Significado Indeterminado do tipo IgM (GMSI IgM). 3-9% dos Linfomas de Zona Marginal (LZM),o Mieloma Múltiplo (MM) e Leucemia Linfocítica Crónica (LLC) também podem apresentar esta mutação, embora numa frequência muito baixa.
Objetivo: Determinar a prevalência da mutação MYD88 L265P, num grupo de doentes com suspeita diagnóstica de MW e estabelecer a sua correlação com as características clínicas e laboratoriais, nomeadamente; idade, sexo, valor de hemoglobina, linfócitos, plaquetas,níveis de IgM e com o imunofenótipo dos linfócitos B.
Material e métodos: Foram incluídos 23 doentes, 15 MW, 2 GMSI IgM, 4 LZM e 2 Linfomas Linfoplasmocíticos. A pesquisa da mutação MYD88 L265P foi efectuada por ASO-PCR em DNA de medula óssea ou sangue periférico. O estudo imunofenotípico da medula óssea e/ou sangue periférico foi efectuado por citometria de fluxo (BD FACSCanto™) utilizando o painel diagnóstico do consorcio Euroflow.
Resultados: Dos 23 doentes estudados, em 15 (65,2%) foi identificada a mutação MYD88 L265P: 13/15 (86,7%) MW, 1/2 GMSI IgM e 1/4 LZM. Nos 2 LLP não foi detectada a mutação MYD88 L265P. Não se observaram diferenças estatisticamente significativas para as características clínico-laboratoriais estudadas entre os doentes com e sem mutação MYD88 L265P. Por citometria de fluxo não se encontraram diferenças na intensidade média de fluorescência dos anticorpos que integram o painel Euroflow tendo em conta a presença/ausência de mutação MYD88 L265P. No entanto o grupo de doentes com MYD88 L265P apresenta MIF tendencialmente aumentada para o CD38 e CD79b com diminuição de expressão de CD19, CD20, CD22, CD305 e CD11c em relação aos doentes MYD88 WT.
Discussão: A mutação MYD88 L265P foi mais prevalente nos doentes com MW (86,7%) numa percentagem semelhante à descrita na literatura. Não se observaram diferenças estatisticamente significativas para características clínico-laboratoriais bem como no imunofenótipo por citometria de fluxo. Em conclusão, estes dados mostram que a identificação da mutação MYD88 L265P poderá ser útil como marcador diferencial entre as patologias que cursam com um componente IgM.Introduction: Waldenstrom macroglobulinemia (WM) is a rare B-cell lymphoproliferative syndrome, characterized by the uncontrolled accumulation of immunoglobulins type M (IgM), which are secreted by lymphoplasmacytic cells. A somatic mutation (L265P) has been recently identified in the primary response myeloid differentiation gene 88 (MYD88) in 80-100% of the WM and 50-80% of Monoclonal IgM Gammopathies of Undetermined Significance (MGUS IgM). 3-9% of Marginal Zone Lymphomas (LZM), Multiple Myeloma (MM) and Chronic Lymphocytic Leukemia (CLL) also have this mutation, although at a very low frequency.
Objective: To determine the prevalence of the MYD88 L265P mutation in a group of patients with suspected WM and establish their correlation with clinical and laboratory characteristics, including; age, sex, hemoglobin value, lymphocytes, platelets, IgM levels and immunophenotype of B lymphocytes.
Methods: We included 23 patients, 15 WM, 2 MGUS IgM, 4 LZM and 2 LLP. The search for the MYD88 L265P mutation was carried out by ASO-PCR in bone marrow or peripheral blood DNA. The immunophenotypic study of bone marrow and / or peripheral blood was performed by flow cytometry (BD FACSCanto ™) using the diagnostic panel of the Euroflow consortium.
Results: Of the 23 patients studied, the L265P MYD88 mutation was identified in 15 (65.2%): 13/15 (86.7%) MW, 1/2 MGUS IgM and1/4 LZM. In 2 LLP, the L265P MYD88 mutation was not detected. There were no statistically significant differences in the clinical and laboratory characteristics studied among patients with and without the L265P MYD88 mutation. For flow cytometry, no differences were found in mean fluorescence intensity of antibodies that comprise the panel, Euroflow taking into account the presence / absence of MYD88 L265P mutation. However we found a tendency for increased MIFexpression of CD38 and CD79b and decreased of CD19, CD20, CD22, CD305 and CD11c, in MYD88 L265P group.
Discussion: The MYD88 L265P mutation was more prevalent in patients with WM (86.7%), in a proportion similar to that described in the literature. There were no statistically significant differences in clinical and laboratory characteristics and in the immunophenotype by flow cytometry. In conclusion, these data show that the identification of the MYD88 L265P mutation may be a useful differential marker between pathologies which occur with an IgM component
A importância das características clínico-laboratoriais e do halving time na avaliação de resposta molecular na leucemia mielóide crónica: estudo retrospectivo de um grupo de doentes
Get PDFIntrodução: Na Leucemia Mielóide Crónica (LMC), a monitorização de
resposta ao tratamento com inibidores de tirosina-cinase (TKI) baseia-se na
avaliação da resposta hematológica, citogenética e molecular ao longo do
tempo, estando definidos critérios de resposta óptima, sub-óptima e falência
aos 3, 6 e 12 meses de tratamento. Os doentes com mais de 10% de
transcrito BCR-ABL1 aos 3 meses são considerados como tendo resposta
sub-óptima e pior prognóstico a longo prazo. No entanto, existe uma
proporção de doentes que atingem respostas moleculares favoráveis
posteriormente.
Objectivos: Num grupo de doentes com LMC, em fase crónica, sob
tratamento com Imatinib (IM), avaliar as diferenças clínico-laboratoriais entre
os doentes com resposta molecular óptima e resposta sub-óptima aos 3
meses de tratamento. Nos doentes com resposta sub-óptima, avaliar a
capacidade do halving time e da redução logarítmica de predizer respostas
moleculares subsequentes.
Material e Métodos: Análise retrospectiva de um grupo de 24 doentes com
LMC, em fase crónica, diagnosticados no nosso centro entre 1 de Janeiro de
2006 e 31 de Agosto de 2014. Revisão dos parâmetros clínico-laboratoriais e
avaliação de resposta óptima, sub-óptima e falência aos 3, 6 e 12 meses de
tratamento. Determinação do halving time e redução logarítmica da %BCRABL1
em doentes com resposta sub-óptima aos 3 meses de Imatinib.
Resultados: Aos 3 meses de tratamento, 14 doentes tinham resposta óptima
e 10 sub-óptima. Os doentes com resposta sub-óptima apresentavam um
valor mais elevado de transcrito ao diagnóstico (p<0,05). Neste grupo de
doentes, o halving time tem valor preditivo de falência de resposta
(AUC=0,83; p=0,02) e de resposta molecular óptima aos 6 meses
(AUC=0,93; p<0,0001). A redução logarítmica aos 3 meses foi preditiva de
resposta molecular óptima aos 6 meses (AUC=0,96; p<0,0001) e aos 12
meses (AUC=0,83; p=0,03). Um valor de 22,59 dias de halving time e uma
redução logarítmica de -1,1log aos 3 meses de tratamento, parecem ter um
bom poder discriminativo dos doentes que alcançam resposta molecular
óptima aos 6 meses.
Conclusão: Estes resultados sublinham a importância da quantificação de
transcrito ao diagnóstico na interpretação da resposta molecular obtida aos 3
meses, assim como o contributo, numa fase precoce de tratamento, de
parâmetros de cinética de decréscimo de transcrito na discriminação dos
doentes com resposta sub-óptima aos 3 meses que alcançarão
posteriormente respostas moleculares favoráveis.Introduction: In Chronic Myeloid Leukaemia (CML), the response to
treatment with tyrosine-kinase inhibitors is monitored based on the evaluation
of hematologic, cytogenetic and molecular responses, with specific criteria
defining responses as optimal, suboptimal or failure at 3, 6 and 12 months of
treatment. Patients with BCR-ABL1 transcript above 10% at 3 months are
considered suboptimal responders, with worse long-term outcomes. However,
a proportion of these patients will still achieve a favourable molecular
response.
Aims: To evaluate the clinic and laboratory differences between patients with
optimal and suboptimal response at 3 months, in a group of patients with
chronic-phase CML treated with Imatinib. Within suboptimal responders, to
evaluate the predicting value of subsequent molecular response of the halving
time and logarithmic reduction.
Methods: Retrospective analysis of a group of 24 patients with chronic-phase
CML, diagnosed in a single centre between January 2006 and August 2014.
Review of the clinic and laboratory parameters and response evaluation at 3,
6 and 12 months of treatment. Determining the halving time and logarithmic
reduction of %BCR-ABL1 in the group of patients with suboptimal response at
3 months of treatment with Imatinib.
Results: After 3 months of treatment, 14 and 10 patients had optimal and
suboptimal responses, respectively. Patients with suboptimal response
presented with a higher transcript value at diagnosis (p<0,05). In this group of
patients, the halving time was predictive of response failure (AUC=0,83;
p=0,02) and optimal response at 6 months (AUC=0,93; p<0,0001). The
logarithmic reduction at 3 months was predictive of optimal molecular
response at 6 (AUC=0,96; p<0,0001) and 12 months (AUC=0,83; p=0,03). An
halving time of 22,59 days and a -1,1log reduction at 3 months of treatment
showed a good predictive value of achieving an optimal response at 6
months.
Conclusion: These results outline the importance of transcript quantification
at the time of diagnosis in the interpretation of the 3-month molecular
response, as well as the role of kinetic parameters of transcript decrease, at
an early timepoint, in discriminating patients with suboptimal response at 3
months that will respond favorably in the long-term
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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