RESUMEN
BACKGROUND: Genetic aberrations in DNA repair genes are linked to cancer, but less is reported about epigenetic regulation of DNA repair and functional consequences. We investigated the intragenic methylation loss at the three prime repair exonuclease 2 (TREX2) locus in laryngeal (n = 256) and colorectal cancer cases (n = 95) and in pan-cancer data from The Cancer Genome Atlas (TCGA). RESULTS: Significant methylation loss at an intragenic site of TREX2 was a frequent trait in both patient cohorts (p = 0.016 and < 0.001, respectively) and in 15 out of 22 TCGA studies. Methylation loss correlated with immunohistochemically staining for TREX2 (p < 0.0001) in laryngeal tumors and improved overall survival of laryngeal cancer patients (p = 0.045). Chromatin immunoprecipitation, demethylation experiments, and reporter gene assays revealed that the region of methylation loss can function as a CCAAT/enhancer binding protein alpha (CEBPA)-responsive enhancer element regulating TREX2 expression. CONCLUSIONS: The data highlight a regulatory role of TREX2 DNA methylation for gene expression which might affect incidence and survival of laryngeal cancer. Altered TREX2 protein levels in tumors may affect drug-induced DNA damage repair and provide new tailored therapies.
Asunto(s)
Metilación de ADN , Exodesoxirribonucleasas/genética , Exodesoxirribonucleasas/metabolismo , Neoplasias Laríngeas/mortalidad , Fosfoproteínas/genética , Fosfoproteínas/metabolismo , Regulación hacia Arriba , Anciano , Línea Celular Tumoral , Reparación del ADN , Epigénesis Genética , Exodesoxirribonucleasas/química , Femenino , Regulación Neoplásica de la Expresión Génica , Células HCT116 , Humanos , Neoplasias Laríngeas/genética , Neoplasias Laríngeas/metabolismo , Masculino , Persona de Mediana Edad , Fosfoproteínas/química , Dominios Proteicos , Análisis de SupervivenciaRESUMEN
Cardiac papillary fibroelastoma (CPF) is a primary cardiac neoplasm usually detected by echocardiography. Left ventricular fibroelastomas are extremely rare. The incidence of CPF is between 0.0017 and 0.33% during autopsy studies. We report a 70-year-old man who had papillary fibroelastoma discovered and resected in 2005 that recurred in 2013. The tumor grew rapidly from 2013 to 2014. A bioprosthetic mitral valve was placed in 2014. Due to the location and nature of the recurrent tumor, mitral valve replacement was the treatment of choice to prevent a third recurrence of the fibroelastoma. The patient was discharged from the hospital on postoperative day 9.
RESUMEN
BACKGROUND: The ability to differentiate adenomatous from nonadenomatous colonic polyps by using chromoendoscopy would obviate the need to remove hyperplastic lesions. The aim of this study was to define the accuracy of high-resolution chromoendoscopy for the determination of colonic polyp histology. METHODS: In 158 patients, 273 polyps (<5 mm) in the rectosigmoid were estimated for their histology. The endoscopists, in two steps, predicted the histopathology of each lesion on the basis of its surface characteristics by using high-resolution colonoscope without any staining and after indigo carmine dye according to the Kudo classification. RESULTS: The resected polyps included 48 adenomatous and 225 nonadenomatous polyps. When histologically confirmed hyperplastic polyps were compared with adenomatous polyps, the prediction of hyperplastic polyps based on endoscopic findings had a sensitivity of 93%, a specificity of 60%, and an overall accuracy of 81%. The corresponding sensitivity, specificity, and overall accuracy after indigo carmine dye were 94%, 64%, and 83%, respectively. CONCLUSIONS: The results suggest that the chromoendoscopy only marginally improves the determination between hyperplastic and adenomatous polyps when using high-resolution colonoscopes. The overall accuracy rate increased after dyeing, from 81% to 83%. The omission of histopathologic analysis cannot yet be achieved by chromoendoscopy.