Gadish T, Tulchinsky H, Deutsch A A, Rabau M
Proctology Unit, Department of Surgery "B,", Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel,
Dis Colon Rectum. 2005 Dec;48(12):2343-6. doi: 10.1007/s10350-005-0201-y.
We report a case of a 23-year-old Turcot female patient who was first diagnosed as having a pinealoblastoma. Thyroid papillary carcinoma was diagnosed a few months later, and multiple colonic polyps were detected three years after that. A genetic workup revealed an APC gene mutation in her family. Long-term survival (i.e., >5 years) of pinealoblastoma is considered to be 20 percent. A review of 25 documented Turcot cases determined that the average age at death is 20.3 years, raising the difficult question of whether she should undergo restorative proctocolectomy. Restorative proctocolectomy may itself cause major morbidity but is currently the only way to prevent colon cancer.
我们报告了一例23岁的图尔科特女性患者，她最初被诊断为松果体母细胞瘤。几个月后诊断出甲状腺乳头状癌，三年后检测到多个结肠息肉。基因检查发现她的家族中有APC基因突变。松果体母细胞瘤的长期生存（即>5年）被认为是20%。对25例记录在案的图尔科特病例的回顾确定，平均死亡年龄为20.3岁，这就引出了一个难题，即她是否应该接受保留肛门的直肠结肠切除术。保留肛门的直肠结肠切除术本身可能会导致严重的发病，但目前是预防结肠癌的唯一方法。
