RESUMEN
BACKGROUND: Colorectal cancer (CRC) is the third most common cancer worldwide with approximately 1 million cases diagnosed annually. In Malaysia, CRC is the second most common cancer in women and ranked first in men. The underlying cause of CRC remains unknown. AIMS: The aim of this study was to analyze the mutations in genes involved in CRC including MLH1, MSH2, KRAS, and APC genes. METHODS: A total of 76 patients were recruited. We used the polymerase chain reaction-denaturing high-performance liquid chromatography for the detection of mutations in the mismatch repair (MMR) and APC genes and the PCR single-strand conformation polymorphism for screening of the KRAS gene mutations. RESULTS: We identified 17 types of missense mutations in 38 out of 76 patients in our patients. Nine mutations were identified in the APC gene, five mutations were detected in the KRAS gene, and two mutations were identified in the MSH2 gene. Only one mutation was identified in MLH1. Out of these 17 mutations, eight mutations (47 %) were predicted to be pathogenic. Seven patients were identified with multiple mutations (3: MSH2 and KRAS, 1: KRAS and APC, 1: MLH1 and APC, 2: APC and APC). CONCLUSIONS: We have established the PCR-DHPLC and PCR-SSCP for screening of mutations in CRC patients. This study has given a snapshot of the spectrum of mutations in the four genes that were analyzed. Mutation screening in patients and their family members will help in the early detection of CRC and hence will reduce mortality due to CRC.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Neoplasias Colorrectales/genética , Genes APC , Mutación Missense , Proteínas Nucleares/genética , Proteínas Proto-Oncogénicas/metabolismo , Proteínas ras/metabolismo , Anciano , Cromatografía Líquida de Alta Presión , Femenino , Humanos , Pérdida de Heterocigocidad , Malasia , Masculino , Persona de Mediana Edad , Homólogo 1 de la Proteína MutL , Proteína 2 Homóloga a MutS/genética , Reacción en Cadena de la Polimerasa , Proteínas Proto-Oncogénicas p21(ras)RESUMEN
A patient with carcinoma of the cardia underwent Ivor-Lewis oesophagogastrectomy. He developed right chylothorax postoperatively, which is a rare complication. Attempts to treat the chylothorax by conservative means and thoracoscopic ligation failed. Finally, pleurodesis using bleomycin successfully sealed the leak and he was discharged.