ObjectiveTo investigate the distribution of uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene polymorphisms in esophageal carcinoma (EC) patients, and their relationship with adverse effects (delayed diarrhea and neutropenia) of Irinotecan.
MethodsForty-eight patients with esophageal squamous carcinoma who were admitted to Sichuan Provincial People's Hospital between January and October 2012 were recruited in the study. There were 37 male and 11 female patients with their age of 56 (25-38) years. Formalin-fixed, paraffin-embedded samples were collected from those EC patients and genomic DNA was extracted. UGT1A1 polymorphisms were detected by PCR and DNA sequencing. Three genetic loci were investigated including UGT1A1* 28 (TA6 > TA7), UGT1A1* 6 (211G > A) and UGT1A1* 93 (-3156G > A). Adverse effects (delayed diarrhea and neutropenia) of patients with different UGT1A1 polymorphisms after Irinotecan treatment were recorded. The relationship between UGT1A1 polymorphisms and Irinotecan-induced adverse effects was analyzed.
ResultsUGT1A1 polymorphisms were detected in 10 out of 48 (20.8%) EC patients. UGT1A1* 93 (-3156G > A)polymorphisms were most common with the polymorphism rate of 16.7% (8/48), followed by GT1A1* 6 (211G > A) polymorphisms with the polymorphism rate of 4.2% (2/48). The incidences of grade 3~4 diarrhea and grade 3~4 neutropenia after Irinotecan treatment in the patients with UGT1A1 polymorphisms were 60.0% and 40.0% respectively, which were significantly higher than those of the patients with wild type UGT1A1 (21.1% and 15.8% respectively, P < 0.05). UGT1A1 polymorphism rates were 45.5% (5/11) in female patients and 13.5% (5/37) in male patients, which were significantly different (P < 0.05).
ConclusionsIn EC patients, 2 polymorphism loci including UGT1A1* 93 (-3156G > A) and GT1A1* 6 (211G > A) can effectively predict adverse effects caused by Irinotecan treatment. UGT1A1 polymorphism rate of male patients is significantly lower than that of female patients.
【摘要】 目的 探討主動脈竇瘤破裂（RSVA）的臨床特點、診斷及外科治療方法。 方法 2004年1月-2009年12月對28例RSVA患者在體外循環下行RSVA修補術，同期行室間隔缺損修補術18例，房間隔缺損修補術4例，主動脈瓣成形術2例，主動脈瓣置換術4例。術后隨訪3個月～6年，平均32.4個月。 結果 28例患者均無手術死亡和殘余分流。失訪4例。心功能Ⅰ級20例，Ⅱ級4例；復查心臟彩色超聲心動圖無主動脈竇瘤復發或殘余分流，主動脈瓣輕-中度反流2例。 結論 外科手術是RSVA的最有效治療方法，竇瘤破口直徑gt;0.5 cm者宜用補片修補。伴有中或重度主動脈瓣關閉不全時需根據主動脈瓣病變程度以及手術者經驗決定，必要時需放寬換瓣指征。【Abstract】 Objective To evaluate the clinical characteristics, diagnosis, and surgical treatment of ruptured sinus of Valsalva aneurysm (RSVA). Methods Twenty-eight patients with RSVA were treated surgically in extracorporeal circulation. Repair of RSVA with patch were taken in all patients while closure of ventricular septal defect (VSD) in 18 patients, closure of atrial septal defect (ASD) in four patients, aortic angioplasty (AA) in two patiens and replacement of aortic valve in four patients. Results There was no death and no residue leak after operation. The patients were followed-up for 24 patients, ranged from three months to six years, with the average 32.4 months. The cardiac function of 20 patients was found to be of NYHA classⅠand four patients of classⅡ. Review the heart colour echocardiography, there was no residual tumor or sinus and aortic regurgitation light-moderate in two patients. Conclusions Surgery is the most effective treatment for RSVA, the breaches of sinus tumor in diametergt;0.5 cm is used to repair. When the patients with moderate or severe aortic regurgitation, whether it is necessary to relax in disc indications depends on the degree of aortic disease and performer’s experience.
