RESUMEN
Bladder cancer (BCa) is an exophytic tumor that presents as either noninvasive confined to the mucosa (NMIBC) or invading the detrusor muscle (MIBC), and was recently further subgrouped into molecular subtypes. Arylamines, major BCa environmental and occupational risk factors, are mainly metabolized by the genetically polymorphic N-acetyltransferases 1, NAT1 and NAT2. In this study, we investigated the association between N-acetyltransferases genetic polymorphism and key MIBC and NMIBC tumor biomarkers and subtypes. A cohort of 250 males with histologically confirmed urothelial BCa was identified. Tumors were genotyped for NAT1 and NAT2 using real-time polymerase chain reaction (PCR), and characterized for mutations in TP53, RB1, and FGFR3 by PCR-restriction fragment length polymorphism. Pathology data and patients' smoking status were obtained from medical records. Pearson χ2 and Fisher exact tests were used to check for associations and interactions. Results show that NAT1 G560 A polymorphism is significantly associated with higher muscle-invasiveness (MIBC vs NMIBC; P = .001), higher tumor grade (high grade vs low grade; P = .011), and higher FGFR3 mutation frequency within the MIBC subgroup (P = .042; .027). NAT2 G857 A polymorphism is also found to be significantly associated with higher muscle-invasiveness (MIBC vs NMIBC; P = .041). Our results indicate that slow N-acetylation is a contributor to bladder carcinogenesis and muscle-invasiveness. These findings highlight NAT1 as a biomarker candidate in BCa and a potential target for drug development.
Asunto(s)
Arilamina N-Acetiltransferasa/genética , Biomarcadores de Tumor/genética , Isoenzimas/genética , Neoplasias de los Músculos/patología , Mutación , Polimorfismo Genético , Neoplasias de la Vejiga Urinaria/patología , Arilamina N-Acetiltransferasa/metabolismo , Biomarcadores de Tumor/metabolismo , Femenino , Estudios de Seguimiento , Genotipo , Humanos , Isoenzimas/metabolismo , Masculino , Persona de Mediana Edad , Neoplasias de los Músculos/genética , Neoplasias de los Músculos/metabolismo , Invasividad Neoplásica , Pronóstico , Factores de Riesgo , Neoplasias de la Vejiga Urinaria/genética , Neoplasias de la Vejiga Urinaria/metabolismoRESUMEN
Primary mature retroperitoneal teratomas are rare tumors most commonly occurring in adult females. These tumors are usually asymptomatic since they have no attachments to specific organs. We present a rare case of a 28-year-old male with 2-month history of lower urinary tract symptoms, who was found to have a primary mature cystic teratoma abutting the prostate.
RESUMEN
Dorsal agenesis of the pancreas is a rare congenital anomaly. Fifty-eight cases were reported from 1913 till 2015, nine of which were associated with tumors. We present the 10th case, the first to be associated with pancreatic mucinous adenocarcinoma and cystic teratoma, successfully managed by Whipple procedure and total pancreatectomy.