PDF(Pubmed)
Abstract：
BACKGROUND: Lynch syndrome is caused by germline mutations of DNA mismatch repair genes. A significant risk increase for several types of cancer is one of the characteristics of lynch syndrome.
METHODS: A 45-year-old female presented to the emergency department with abdominal pain that had persisted for a month.
METHODS: The abdominal and pelvic computed tomography scan showed edematous and thickening of the proximal small bowel wall, as well as dilatation of the proximal bowel and stomach.
METHODS: Tumor resection of the small bowel was performed, and adenocarcinoma was confirmed pathologically. Microsatellite instability was also confirmed.
RESULTS: Postoperative imaging revealed soft tissue lesions with potential for tumor seeding. Two months after the first surgery, a secondary surgery was performed as a result of cancer recurrence. The patient received chemotherapy with capecitabine. The latest computed tomography scan, performed 19 months after the cessation of chemotherapy, did not show any recurrence.
CONCLUSIONS: In the rare incidence of small bowel cancer genetic mutation testing and detailed family history should be actively considered.
METHODS: A 45-year-old female presented to the emergency department with abdominal pain that had persisted for a month.
METHODS: The abdominal and pelvic computed tomography scan showed edematous and thickening of the proximal small bowel wall, as well as dilatation of the proximal bowel and stomach.
METHODS: Tumor resection of the small bowel was performed, and adenocarcinoma was confirmed pathologically. Microsatellite instability was also confirmed.
RESULTS: Postoperative imaging revealed soft tissue lesions with potential for tumor seeding. Two months after the first surgery, a secondary surgery was performed as a result of cancer recurrence. The patient received chemotherapy with capecitabine. The latest computed tomography scan, performed 19 months after the cessation of chemotherapy, did not show any recurrence.
CONCLUSIONS: In the rare incidence of small bowel cancer genetic mutation testing and detailed family history should be actively considered.
摘要：
背景：Lynch综合征是由DNA错配修复基因的种系突变引起的。几种类型癌症的风险显着增加是林奇综合征的特征之一。
方法：一名45岁女性因腹痛持续1个月到急诊科就诊。
方法：腹部和盆腔计算机断层扫描显示近端小肠壁水肿和增厚，以及近端肠和胃的扩张。
方法：进行小肠肿瘤切除术，病理证实为腺癌。微卫星不稳定性也得到证实。
结果：术后影像学显示软组织病变具有肿瘤种植潜力。第一次手术两个月后,由于癌症复发,进行了二次手术.患者接受卡培他滨化疗。最新的计算机断层扫描,化疗停止后19个月进行，没有显示任何复发。
结论：在罕见的小肠癌发病率中，应积极考虑基因突变检测和详细的家族史。
方法：一名45岁女性因腹痛持续1个月到急诊科就诊。
方法：腹部和盆腔计算机断层扫描显示近端小肠壁水肿和增厚，以及近端肠和胃的扩张。
方法：进行小肠肿瘤切除术，病理证实为腺癌。微卫星不稳定性也得到证实。
结果：术后影像学显示软组织病变具有肿瘤种植潜力。第一次手术两个月后,由于癌症复发,进行了二次手术.患者接受卡培他滨化疗。最新的计算机断层扫描,化疗停止后19个月进行，没有显示任何复发。
结论：在罕见的小肠癌发病率中，应积极考虑基因突变检测和详细的家族史。
