Avaliação das alterações genéticas em crianças e adolescentes com leucemia linfoblástica aguda, em um hospital universitário do Sul do Brasil, no período de 2000 a 2018.

• Ano de defesa: 2023
• Autor(a) principal: Marcon, Mariana Nóbrega
• Orientador(a): Cóser, Virgínia Maria
• Banca de defesa: Nunes, Simone dos Santos, Weinmann, Angela Regina Maciel
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de Santa Maria; Centro de Ciências da Saúde
• Programa de Pós-Graduação: Programa de Pós-Graduação em Ciências da Saúde
• Departamento: Ciências da Saúde
• País: Brasil
• Palavras-chave em Português: Genética; Pediatria; Recidiva; Sobrevida
• Palavras-chave em Inglês: Oncologia; Genetics; Oncology; Pediatrics; Recurrence; Survival
• Área do conhecimento CNPq: CNPQ::CIENCIAS DA SAUDE
• Link de acesso: http://repositorio.ufsm.br/handle/1/29572

Acute lymphoblastic leukemia (ALL) is diagnosed cytomorphologically by immunophenotyping, cytogenetics and molecular biology. The classifications, together with the clinical data, stratify the groups at risk of relapse, for a more or less invasive therapeutic decision. Carrying out genetic tests in the diagnosis is fundamental to outline a better prognosis and a more appropriate treatment in each case. This was a retrospective and cross-sectional study, which evaluated the profile of patients diagnosed with ALL in childhood and adolescence, their genetic alterations, prognosis, relapse/death outcome and survival, whose treatment was by the GBTLI ALL-1999 and GBTLI ALL- 2009, at the University Hospital of Santa Maria, from July 2000 to November 2018. There were 215 diagnoses of ALL, with a mean age of 7.45 years, 54.9% male. Stratified by relapse risk groups, 35.8% of patients were at High Risk, 41.9% at Low Risk, 15.3% with T Lineage ALL, 4.2% with Ph+ chromosome and 2.8% Infants. All patients had their cytogenetic and molecular biology tests analyzed and stratified by the main markers. When comparing the data from the GBTLI-LLA 1999 and GBTLI-LLA 2009 protocols, similarity was observed in relapse rates of 17.6% and 17.6% and in death rates of 22% and 21%, respectively. In the last three decades, with the treatment by clinical protocol, there has been an advance in the cure, and the survival rates reach 70 to 80%, which was evidenced in this study, with an overall survival of 87.9% in one year , 83.5% in two years and 79.8% in five years of patients treated by the GBTLI LLA-1999 protocol and 85.5% in one year, 83.95 in two years and 81.4% in five years of patients treated by GBTLI LLA-2009, showing similar survival rates.