Detalhes bibliográficos
| Ano de defesa: |
2019 |
| Autor(a) principal: |
SERPA, Ana Luiza Farias
 |
| Orientador(a): |
OLIVEIRA, Raimundo Antônio Gomes
|
| Banca de defesa: |
OLIVEIRA, Raimundo Antônio Gomes
,
CARVALHO, Rafael Cardoso
,
PEREIRA, Paulo Vítor Soeiro
,
AVILA, Elda Pereira Noronha
|
| Tipo de documento: |
Dissertação
|
| Tipo de acesso: |
Acesso aberto |
| Idioma: |
por |
| Instituição de defesa: |
Universidade Federal do Maranhão
|
| Programa de Pós-Graduação: |
PROGRAMA DE PÓS-GRADUAÇÃO EM CIÊNCIAS DA SAÚDE/CCBS
|
| Departamento: |
DEPARTAMENTO DE FARMÁCIA/CCBS
|
| País: |
Brasil
|
| Palavras-chave em Português: |
|
| Palavras-chave em Inglês: |
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| Área do conhecimento CNPq: |
|
| Link de acesso: |
https://tedebc.ufma.br/jspui/handle/tede/2704
|
Resumo: |
Introduction: Acute lymphoid leukemias (ALL) constitute 25% of cases of pediatric cancers and are divided into T-ALL and B-ALL, the latter being the most frequent subtype. The B-ALL is classified by the presence of fusion genes, highlighting ETV6-RUNX1 (E / R) due to its presence in 25% of cases of B-ALL and its association with an uncertain prognosis. This study aimed to characterize the B-ALL in the State of Maranhão, as well as to associate immunomolecular and biochemical parameters with the prognosis of patients with ALL-B E/R positive. Material and methods: Thirty four patients from the reference center of the state of Maranhão had clinical, morphological, laboratory and immunophenotypic data recorded in a database for later association. After molecular characterization by PCR, the patients were stratified by the presence or absence of the fusion genes MLL-AF4, BCR-ABL (p190), E/R and TCF3-PBX1. In the positive group for the E/R gene, the association between prognosis with immunophenotypic and biochemical data was made, having as a comparison group negative ETV6-RUNX1 patients, without excluding the absence of other fusion genes. Results: Of the 34 patients initially studied, 29 were classified as B-ALL and 5 as T-ALL. The frequency of fusion genes in patients with B-ALL was 38% (n = 11) E/R, 21% (n = 6) TCF3-PBX1 and 41% (n = 12) negative for the fusion genes studied. The mean age of the positive E / R patients was 3.7 ± 3.4 years whereas in the negative patients it was 4.9 ± 3.5 years. The subtypes of ALL-B E/R found were common B-ALL in 72.7% (n = 8) and 27.3% (n = 3) of pre-B ALL. Among the biochemical parameters analyzed, there was no difference between the analyzed groups. In relation to the aberrant and / or fusion-immunofenotypic markers analyzed in both groups, there was no difference, however the CD56 and CD9 markers were expressed among the E/R patients. Regarding the prognosis of the E/R patients during the evaluation of response to treatment, it was observed that 3 of the 5 CD9 + patients and 2 of the 3 CD56 + patients had poor responses at some of the treatment response checkpoints. In addition, 27.3% (n = 3) of the cases evolved to death and of these 2 expressed CD9 and 1 expressed CD56. Conclusion: According to the results, we performed for the first time the characterization of the recurrent molecular alterations of B-ALL in the State of Maranhão and we observed that patients positive for the E/R fusion gene can present a clinical outcome variable according to the immunophenotypic profiles. |
