RESUMO
To analyze the occurrence of genetic mutations in a sample of patients with high risk of breast cancer in Florianopolis/ SC from December 1st, 2021, to January 31, 2022. Methods: An observational, descriptive and retrospective study carried out through data collection of a preexisting database. A total of 194 tests were analyzed. Of these, 192 met the inclusion criteria and composed the final sample of 205 genes. Data were classified and reported the frequency and percentage of the variables: gene and presence or absence of mutation. Results: Mean age of the analyzed patients was 52.3 years, and most underwent the test due to personal history of breast cancer (80%). Clinical significance classification showed that, of the 192 gene panels, 62% were variants of uncertain significance; 14% were pathogenic; and 24%, negative. Of the 205 mutations, the most prevalent genes were: ATM 8.7%, MUTYH 5.8%, POLE 5.8%, BRCA2 4.8%, MSH6 4.8% and RECQL4 4.8%. Of the pathogenic tests regarding genetic predisposition to cancer (n=38/14.1%), the most common mutations were MUTYH (23%) and BRCA1 (15%), with mean age of 52 years (±14.3). In variants of uncertain significance panels (n=168/62%) the frequency rates were ATM (7.7%), POLE (7.1%) and MSH6 (5.9%) genes. The high penetrance genes were present in 18% of the genetic predisposition to cancer panels. Of those with positive family history (n=40), 19% of the genes were pathogenic, 53% were variants of uncertain significance; and 26% were negative. Furthermore, in patients with pathogenic mutations and positive family history (n=11), the most common mutations were in BRCA1 (27%) and BRCA2 (27%). Of the patients who tested due to personal history (n=152), 64% of the genes presented variants of uncertain significance, 13% were pathogenic and 22% were negative.
RESUMO
Os tumores císticos mucinosos do pâncreas são neoplasias epiteliais císticas compostas por células colunares produtoras de mucina e comportamento semelhante ao cistoadenoma de ovário e fígado com propensão a degeneração maligna. São neoplasias raras que correspondem a menos de 5 % dos tumores pancreáticos, acometendo mais frequentemente as mulheres, com predomínio em pacientesjovens. Relata- se o caso de uma paciente de 47 anos, sexo feminino, que iniciou com desconforto na região mesogástrica, progressivo durante o puerpério associado a aumento do volume abdominal. Exames de imagem revelaram lesão cística na topografia do pâncreas. Foi realizada umaPancreatectomia corpo-caudal e esplenectomia no qual se confirmou o diagnóstico de Cistoadenocarcinoma invasivo da cauda do pâncreas medindo 12 centímetros. Não existe no momento consenso em relação ao tratamento adjuvante.
Mucinous cystic tumors of the pancreas are cystic epithelial neoplasms composed of columnar cells producing mucin-like behavior and cystadenoma of ovary and liver are prone to malignancy. Are rare neoplasms that account for less than 5% of pancreatic tumors, most often affecting women, predominantly in young patients. We report the case of a 47-year-old female, who started with discomfort in the mesogastric, progressive during the postpartum period associated with increased abdominal volume. Imaging examinations revealed a cystic lesion in the topography of the pancreas. We performed a body-tail pancreatectomy and splenectomy in which it confirmed the diagnosis of invasive cystadenocarcinoma of the tail of the pancreas measuring 12cm. There is no currently consensus regarding adjuvant treatment.