Local
Área Exposição Pôster - 3º andar
Autor Responsável
Giulia Di Credico Paranhos
Forma de apresetação
Pôster
Autores
Letícia Bezerra de Almeida , Giulia Di Credico Paranhos , Sarah Mahlmann de Araújo Muniz , Jeison Evangelista Neto , Maria Eduarda Moura Paulino , Angela Beatriz da Silva , Bright Owusu Ansah , Rayssa Shanaza da Silva Batista , Rodrigo Santana Leite , Tuanny Victória Fernandes Morais , Yasmin Nóbrega e Souza , Ruth Avernias Lopes de Avila , Ryan Marcos Xavier de Oliveira , Gabriel Soares Marques , Felipe Martins de Lima , Rogério Almeida Santos Filho , Anna Lis dos Santos Macedo Costa , Rafaella Barbosa Paiva , Fabricio Dantas Oliveira , Maria Beatriz Pitombeira de Azevedo Moreira , Arthur Nóbrega Rodrigues de Lima , Henrique Fialho Carneiro Braga Costa , Bruno Varela Fernandes , Matheus Henrique Marinho de Gouveia , Hiago de Freitas Macedo , Larissa de Pontes Costa Abreu , Carla Vitória Brito dos Santos , Paulo Vinícios Morais Alexandre , Vicente Castor Brito , Lucas Brito Maracajá
Instituições dos autores (EM ordem)
UFCG , UFCG , UFRN , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG , UFCG
Resumo
BACKGROUND: Sarcoma is a heterogeneous group of cancers with varying prognoses and subtypes. From a genetic standpoint, it is equally diverse, ranging from simple chromosomal translocations to mutations in canonical drivers. OBJECTIVE: To describe the frequency of mutations in sarcomas and correlate them to the epidemiological profiles and prognosis of patients. METHODOLOGY: The research was conducted using the National Cancer Institute Genomic Data Commons (GDC) database, analyzing information related to the frequency of genetic mutations in 148 cases of soft tissue cancer (sarcoma). First, the genes and types of mutations - deletion, insertion, and substitution - were analyzed. Subsequently, a more specific search was conducted on the 4 genes with the highest number of cases to identify the type of cancer and analyze its statistics, including distribution by type of cancer, gender, age at diagnosis, and survival duration. RESULTS: A total of 20 genes were evaluated, with 233 variations identified across 148 cases, primarily through substitution (81%). In this study, 4 genes accounted for the majority of instances, with the predominant age range being 70–80 years. The TP53 gene (n=42, 28%) was associated with 15 cases of soft tissue tumors and sarcomas (35%), as well as myomatous, fibromatous neoplasms, and other types. Among the sarcoma cases, there was a higher incidence in males (n=9, 60%), with a 5-year mortality rate of 33%. Similarly, the MUC16 gene (n=20, 13.5%) was linked to 5 cases of soft tissue tumors and sarcomas (25%), with a predominance in females (n=3, 60%) and a 5-year mortality rate of 40%. In this context, the ATRX gene (n=20, 13.5%) was associated with 9 cases of soft tissue tumors and sarcomas (45%), mostly in females (n=7, 77%), with a 5-year mortality rate of 33%. Lastly, the RB1 gene (n=18, 12%) was associated with 3 cases of soft tissue tumors and sarcomas (16%), predominantly in females (n=2, 66%), with a 5-year mortality rate of 33%. CONCLUSION: The prognosis, expressed as 5-year mortality, was similar among the 4 genes highlighted in this study. Additionally, regarding sex predominance, only the TP53 gene had mutations that were more prevalent in men.