RESUMO
Background: Hereditary multiple osteochondromas (HMOs) are a rare genetic disorder characterized by the formation of multiple benign osteochondromas that can undergo malignant transformation into chondrosarcoma. Case Description: A 24-year-old male with a history of HMO and osteochondroma surgery 4 years ago, presented with back pain and paresthesias. The magnetic resonance showed a right paravertebral infiltrating mass at the T12-L1 level causing spinal cord compression. Following en bloc resection of the tumor, the patient's symptoms/ signs resolved. The final pathological diagnosis was consistent with a chondrosarcoma. Conclusion: Chondrosarcomas secondary to HMO with spinal cord compression are rare. These patients often presenting with significant myelopathy/cord compression should undergo gross total resection where feasible to achieve the best outcomes.
RESUMO
Introduction: breast cancer (BC) is the most common tumor and the leading cause of cancer-related death among the female population worldwide. Polymorphisms genetics of ABCB1 gene contributed to breast cancer susceptibility and interindividual differences in chemotherapy response. Objectives: to evaluate the association between the ABCB1 C3435T gene polymorphism (SNPs) with the response to neoadjuvant chemotherapy in women with breast cancer. Methodology: this study included 32 female patients who received neoadjuvant chemotherapy. The polymorphisms were genotyped through real-time allele-specific polymerase chain reaction (PCR). The statistical analysis was performed using the Fisher's exact test or Pearson's chi-square test in the Statistical Package for Social Sciences (SPSS) version 20.0 software. Results: the genotypes found for the C3435T polymorphism were in Hardy-Weinberg equilibrium and their genotypic distributions were CC= 10 (31.1%), CT= 14 (43.8%), and TT= 08 (25.0%) with χ2: 0.86 and p-value > 0.05. Allele frequencies were C = 0.54 and T = 0.46. There were no significant statistical differences between genotypes considering the response to neoadjuvant chemotherapy and immunohistochemistry; the presence of the T allele was associated with worsen axillary status response to neoadjuvant chemotherapy. Conclusion: no definite association between the presence of C3435T polymorphism and the response to neoadjuvant chemotherapy was observed. Further studies in Brazil involving larger samples will contribute to validating the results of this study.
Introdução: o câncer de mama (CM) é o tumor mais comum e a principal causa de morte relacionada ao câncer na população feminina em todo o mundo. Polimorfismos genéticos do gene ABCB1 contribuem para a suscetibilidade ao câncer de mama e diferenças interindividuais na resposta à quimioterapia. Objetivos: avaliar a associação entre o polimorfismo (SNPs) do gene ABCB1 C3435T com a resposta à quimioterapia neoadjuvante em mulheres com câncer de mama. Metodologia: estudo com 32 pacientes do sexo feminino, que utilizaram quimioterapia neoadjuvante. A genotipagem dos polimorfismos foi feita por reação da polimerase em cadeia (PCR) em tempo real alelo específica. A análise estatística foi realizada mediante o teste exato de Fisher ou Qui-quadrado de Pearson, utilizando o software SPSS (Statistical Package for the Social Sciences) vs20.0. Resultados: os genótipos encontrados para o polimorfismo C3435T estavam em equilíbrio de Hardy-Weinberg e suas distribuições genotípicas foram respectivamente CC= 10 (31,1%), CT= 14 (43,8%), TT= 08 (25,0%) sendo, X2: 0.86 e p-value> 0,05. As frequências alélicas foram de C= 0,54 e T= 0,46. Não ocorreram diferenças estatísticas entre os genótipos, considerando a resposta a quimioterapia neoadjuvante e a imunohistoquímica, sendo a presença do alelo T associada a pior resposta do status axilar à quimioterapia neoadjuvante. Conclusão: não foi possível correlacionar a presença do polimorfismo C3435T com a resposta à quimioterapia neoadjuvante, sendo necessária a realização de novos estudos no Brasil envolvendo casuísticas maiores para a validação dos resultados.
