Adequação, validação e aplicação de um instrumento para identificação de predisposição hereditária ao câncer na criança e no adolescente
Data
2024-11-14
Autores
Engel, Murilo Santos 
Orientadores
Toledo, Silvia Regina Caminada de
Tipo
Dissertação de mestrado
Título da Revista
ISSN da Revista
Título de Volume
Resumo
Objetivo: Adequar, validar e aplicar um instrumento para triagem de predisposição hereditária ao câncer em crianças e adolescentes. Método: Trata-se de um estudo metodológico, dividido em 3 fases: análise exploratória com inclusão de participantes em acompanhamento genético e análise de banco de dados de pacientes; adequação e validação de conteúdo e semântica do instrumento de triagem baseado no modelo de Pasquali e utilizando a técnica Delphi com índice de concordância de 80%; aplicação do instrumento, incluindo participantes com diagnóstico oncológico efetivo até 6 meses antes da aplicação. Os dados foram coletados após aprovação do Comitê de Ética em Pesquisa, (CAAE): 57974122.1.0000.5505, e analisados por meio de estatística descritiva. Resultado: A jornada do paciente demonstrou ser multidisciplinar voltada ao acompanhamento dos diagnósticos oncológicos de tumores de sistema nervoso central (SNC) (45,7%), de sistema ocular (16,7%) e de outros órgãos sólidos (16%) e, das síndromes neurofibromatose tipo 1 (11,7%) e esclerose tuberosa (3,7%). O instrumento de Jongmans foi definido para adequação a partir da eleição e particularização de critérios segundo as características institucionais e aspectos da literatura, resultando em um instrumento com 6 itens, validado por um comitê de 7 juízes e que possibilita a triagem para síndrome de predisposição hereditária ao câncer (SPHC) na oncologia pediátrica. Após aplicação do instrumento e análise retrospectiva da médica geneticista, evidenciou-se que há aplicabilidade e assertividade no referenciamento de pacientes a partir do uso do instrumento, haja vista que o referenciamento de 14 participantes e não referenciamento de 11 foram adequados. Conclusão: Foi possível a adequação de um instrumento de triagem para predisposição hereditária ao câncer coerente com a literatura, que refletisse a realidade local, validado por especialistas e que fosse assertivo para o encaminhamento de pacientes ao especialista em genética.
Objective: To adapt, validate, and apply a screening tool for hereditary cancer predisposition in children and adolescents. Method: This was a methodological study divided into three phases: exploratory analysis, which included participants undergoing genetic follow-up and database analysis of patients; adaptation and validation of the screening tool’s content and semantics based on Pasquali's model and using the Delphi technique with an 80% agreement threshold; and application of the tool, which included participants with confirmed oncological diagnoses within six months prior to its application. Data were collected following approval by the Research Ethics Committee (CAAE: 57974122.1.0000.5505) and analyzed using descriptive statistics. Results: The patient pathway demonstrated a multidisciplinary approach focused on managing diagnoses of central nervous system (CNS) tumors (45.7%), ocular system tumors (16.7%), and other solid organ tumors (16%). Additionally, syndromes such as neurofibromatosis type 1 (11.7%) and tuberous sclerosis (3.7%) were identified. The Jongmans tool was selected for adaptation based on the prioritization and particularization of criteria according to institutional characteristics and literature findings, resulting in a six-item tool validated by a committee of seven experts. The tool was found to facilitate screening for hereditary cancer predisposition syndromes (HCPS) in pediatric oncology. Following its application and retrospective analysis by a clinical geneticist, the tool demonstrated applicability and accuracy in patient referral, as evidenced by the appropriate referral of 14 participants and the non-referral of 11 participants. Conclusion: It was possible to adapt a screening tool for hereditary cancer predisposition that is consistent with the literature, reflects the local reality, has been validated by experts, and is effective in facilitating the referral of patients to a genetic specialist.
Objective: To adapt, validate, and apply a screening tool for hereditary cancer predisposition in children and adolescents. Method: This was a methodological study divided into three phases: exploratory analysis, which included participants undergoing genetic follow-up and database analysis of patients; adaptation and validation of the screening tool’s content and semantics based on Pasquali's model and using the Delphi technique with an 80% agreement threshold; and application of the tool, which included participants with confirmed oncological diagnoses within six months prior to its application. Data were collected following approval by the Research Ethics Committee (CAAE: 57974122.1.0000.5505) and analyzed using descriptive statistics. Results: The patient pathway demonstrated a multidisciplinary approach focused on managing diagnoses of central nervous system (CNS) tumors (45.7%), ocular system tumors (16.7%), and other solid organ tumors (16%). Additionally, syndromes such as neurofibromatosis type 1 (11.7%) and tuberous sclerosis (3.7%) were identified. The Jongmans tool was selected for adaptation based on the prioritization and particularization of criteria according to institutional characteristics and literature findings, resulting in a six-item tool validated by a committee of seven experts. The tool was found to facilitate screening for hereditary cancer predisposition syndromes (HCPS) in pediatric oncology. Following its application and retrospective analysis by a clinical geneticist, the tool demonstrated applicability and accuracy in patient referral, as evidenced by the appropriate referral of 14 participants and the non-referral of 11 participants. Conclusion: It was possible to adapt a screening tool for hereditary cancer predisposition that is consistent with the literature, reflects the local reality, has been validated by experts, and is effective in facilitating the referral of patients to a genetic specialist.
Descrição
Citação
ENGEL, Murilo Santos. Adequação, validação e aplicação de um instrumento para identificação de predisposição hereditária ao câncer na criança e no adolescente. 2024. 122 f. Dissertação (Mestrado em Biologia Estrutural e Funcional) - Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, 2024.