Alterações cromossômicas em síndrome mielodisplásica

Chauffaille, Maria de Lourdes Lopes Ferrari

doi:10.1590/s1516-84842006000300006

Cited by 4 publications

(4 citation statements)

References 6 publications

(12 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In Cases 2 and 14, after SNPa analysis, some chromosomal abnormalities (−7, +8, −16 and −Y) were found in sporadic metaphases during the karyotyping reanalysis, but had not initially been described because they did not meet the criterion to be considered as a cytogenetic clone, 15 that is, more than three cells with the same numerical change or two cells with the same rearrangement. 28 …”

Section: Discussionmentioning

confidence: 99%

Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

Noronha

Rohr

Chauffaille

2015

Revista Brasileira de Hematologia e Hemoterapia

View full text Add to dashboard Cite

ObjectiveTo standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differences between the results of this method and karyotyping.MethodsTwenty-two patients diagnosed with acute myeloid leukemia and three with myelodysplastic syndromes were studied. The G-banding karyotyping and single nucleotide polymorphism array analysis (CytoScan® HD) were performed using cells from bone marrow, DNA extracted from mononuclear cells from bone marrow and buccal cells (BC).ResultsThe mean age of the patients studied was 54 years old, and the median age was 55 years (range: 28–93). Twelve (48%) were male and 13 (52%) female. Ten patients showed abnormal karyotypes (40.0%), 11 normal (44.0%) and four had no mitosis (16.0%). Regarding the results of bone marrow single nucleotide polymorphism array analysis: 17 were abnormal (68.0%) and eight were normal (32.0%). Comparing the two methods, karyotyping identified a total of 17 alterations (8 deletions/losses, 7 trissomies/gains, and 2 translocations) and single nucleotide polymorphism array analysis identified a total of 42 alterations (17 losses, 16 gains and 9 copy-neutral loss of heterozygosity).ConclusionIt is possible to standardize single nucleotide polymorphism array analysis in acute myeloid leukemia/myelodysplastic syndromes and compare the results with the abnormalities detected by karyotyping. Single nucleotide polymorphism array analysis increased the detection rate of abnormalities compared to karyotyping and also identified a new set of abnormalities that deserve further investigation in future studies.

show abstract

Section: Discussionmentioning

confidence: 99%

Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

Noronha

Rohr

Chauffaille

2015

Revista Brasileira de Hematologia e Hemoterapia

View full text Add to dashboard Cite

show abstract

“…As Síndromes Mielodisplásicas (SMD) constituem um grupo diverso de doenças hematopoéticas, de origem clonal, com maior incidência em pacientes idosos 1 . Normalmente são caracterizadas por pancitopenias em sangue periférico e uma medula óssea normo ou hipercelular, com alterações displásicas de tamanho, forma e organização celular, podendo acumular células imaturas denominadas blastos leucêmicos.…”

Section: Introductionunclassified

Sobrevida e evolução leucêmica de portadores de síndromes mielodisplásicas

2013

View full text Add to dashboard Cite

Cad. Saúde Colet., 2013, Rio de Janeiro, 21 (2): 154-9 154 Artigo Original ResumoAs síndromes mielodisplásicas constituem um grupo de doenças de ordem clonal hematopoética evidenciadas por estudos em todo o mundo. A estimativa de sobrevida dos pacientes e de casos que apresentam evolução leucêmica requer investigação na população brasileira, pois não se conta com nenhum dado dessa natureza. Assim, este estudo objetivou caracterizar e estimar a sobrevida e evolução leucêmica de portadores de síndromes mielodisplásicas acompanhados em um serviço de referência. Trata-se de um estudo de coorte retrospectiva realizada de janeiro de 2000 a dezembro de 2010. Para análise descritiva foi utilizado o programa Epi Info 2002, versão 3.5.2, e para os cálculos das probabilidades de sobrevida foi empregado o método de Kaplan-Meier pelo uso do programa Statistic Package for Social Sciences (SPSS), versão 10.0. Os cálculos da probabilidade de associação entre as características analisadas e o gênero foram realizados pelos testes do qui-quadrado de tendência, de Fisher, Mann Whitney, e de Log Rank. O nível de significância considerado foi de 0,05. O trabalho foi aprovado em seus aspectos ético e metodológico pelo Comitê de Ética em Pesquisa do Hospital Universitário Onofre Lopes (HUOL), sob o Protocolo n. 432/10. Dos 29 pacientes selecionados, houve predomínio de idosos, do sexo masculino, com baixa escolaridade. Apresentaram baixa probabilidade acumulada de sobrevida e índices de evolução leucêmica em torno de 27%, sem nenhum resultado satisfatório para o tratamento quimioterápico, bem como nenhuma indicação de transplante de medula óssea como possibilidade de cura. Fazem-se necessárias pesquisas com populações maiores para caracterização em todo território nacional.Palavras-chave: análise de sobrevida; prognóstico; pré-leucemia; anemia refratária; anemia refratária com excesso de blastos; epidemiologia. AbstractMyelodysplastic syndromes constitute a group of clonal hematopoietic diseases shown by studies all around the world. The survival estimation of the patients and the cases presenting leukemic evolution demand investigation in the Brazilian population, as there's no data with regard to this theme. Thus, this study aimed to characterize and estimate the survival and leukemic evolution of patients with myelodysplastic syndromes followed up in a reference service. This is a retrospective cohort study carried out from January 2000 to December 2010. The software Epi Info 2002, version 3.5.2, was used for descriptive analysis, and for the calculations of survival probabilities the Kaplan-Meier method was employed through the software Statistic Package for Social Sciences (SPSS), version 10.0. The calculations of the association probability between the characteristics analyzed and gender were performed using the chi-square for trend, Fisher, Mann Whitney, and Log Rank tests. The significance level was 0.05. The ethical and methodological aspects of the study were approved by the Research Ethics Committee of HUOL, under the Protoc...

show abstract

“…Potassium chloride (0.075 mol/L) was added to the pellet for 20 minutes followed by fixing using Carnoy`s fixative three times. ( 9 ) Part of the sample (1 mL) was allocated for FISH and stored in a refrigerator at 4ºC until use. Some material was dripped on glass slides, air dried, aged and banded using trypsin-Giensa (GTG).…”

Section: Methodsmentioning

confidence: 99%

“…( 10 ) The definition of a clone, from the cytogenetic point of view, was the presence of the same structural anomaly in at least two cells or the absence of the same chromosome in at least three metaphases. ( 9 )…”

Section: Methodsmentioning

confidence: 99%

Cytogenetics, JAK2 and MPL mutations in polycythemia vera, primary myelofibrosis and essential thrombocythemia

Santos¹,

Ribeiro²,

Silva³

et al. 2011

Rev. Bras. Hematol. Hemoter.

View full text Add to dashboard Cite

BackgroundThe detection of molecular and cytogenetic alterations is important for the diagnosis, prognosis and classification of myeloproliferative neoplasms.ObjectivesThe aim of this study was to detect the following mutations: JAK2 V617F, JAK2 exon 12 and MPL W515K/L, besides chromosomal abnormalities. Furthermore, molecular and cytogenetic alterations were correlated with the leukocyte and platelet counts, hemoglobin levels and age in all patients and with the degree of fibrosis in primary myelofibrosis cases.MethodsTwenty cases of polycythemia vera, 17 of essential thrombocythemia and 21 of primary myelofibrosis were selected in the Hematology Department of the Universidade Federal de São Paulo (UNIFESP) between February 2008 and December 2009. The JAK2 V617F, JAK2 exon 12 mutations, MPL W515K and MPL W515L mutations were investigated by real-time PCR and direct sequencing. G-band karyotyping and fluorescence in situ hybridization were used to detect chromosomal abnormalities.ResultsChromosomal abnormalities were observed only in polycythemia vera (11.8%) and primary myelofibrosis cases (17.6%), without correlation to clinical data. Chromosomal abnormalities were not detected by fluorescence in situ hybridization. The JAK2 V617F mutation was observed in polycythemia vera (90%), primary myelofibrosis (42.8%) and essential thrombocythemia (47%). Patients with JAK2 V617F-negative polycythemia vera had lower platelet and leukocyte counts compared to V617F-positive polycythemia vera (p-value = 0.0001 and p-value = 0.023, respectively). JAK2 V617F-positive and MPL W515L-positive primary myelofibrosis cases had a higher degree of fibrosis than V617F-negative cases (p-value = 0.022). JAK2 exon 12 mutations were not detected in polycythemia vera patients. The MPL W515L mutation was observed in one case of primary myelofibrosis and in one of essential thrombocythemia. The MPL W515K mutation was not found in patients with essential thrombocythemia or primary myelofibrosis. The MPL W515L-positive patient with primary myelofibrosis had more severe anemia than other patients with primary myelofibrosis.ConclusionsThis study demonstrates that karyotyping for JAK2 and MPL mutations is useful in the diagnosis of myeloproliferative neoplasms. The precise pathogenetic contribution of these alterations is still unclear. However, this study adds more information about the pathophysiology of polycythemia vera, essential thrombocythemia and primary myelofibrosis.

show abstract

Alterações cromossômicas em síndrome mielodisplásica

Cited by 4 publications

References 6 publications

Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

Sobrevida e evolução leucêmica de portadores de síndromes mielodisplásicas

Cytogenetics, JAK2 and MPL mutations in polycythemia vera, primary myelofibrosis and essential thrombocythemia

Contact Info

Product

Resources

About