背景:林奇综合征(HNPCC,遗传性非息肉病性结直肠癌)是一种以常染色体显性遗传方式遗传的癌症易感性综合征。与普通人群相比,患有Lynch综合征的人患大肠癌的风险大大增加。
方法:我们介绍了一例24岁的Lynch综合征(携带MLH1基因突变)患者,在16岁时被诊断为结直肠腺癌。在此期间,他进行了结肠切除术并进行了化疗(5-FU,CDDP,亚叶酸钙)。由于肝转移,决定将化疗改为使用ADM的IF,因此获得了完全缓解。然而,肾衰竭发展。其原因尚未完全阐明。患者接受血液透析治疗。癌症完全缓解六年后,肾移植开始被考虑.在患者被发现有资格进行移植之前,进行了扩展诊断测试:全身PET扫描,肿瘤标记物测试和肠内窥镜检查,没有发现任何异常。患者的家庭捐赠者(母亲)没有肾脏捐赠的禁忌症。2012-15-10进行肾移植。使用巴利昔单抗诱导,连同类固醇,他克莫司,并给予霉酚酸酯。在程序后三个月进行CNI/mTOR转化。维持治疗包括泼尼松,依维莫司和霉酚酸酯。移植一年后,肾功能正常.对患者进行密切的肿瘤监测。
结论:应根据具体情况考虑与免疫抑制治疗相关的癌症复发或新发展的风险。在有癌症病史或高风险的患者中,应使用基于m-TOR途径抑制剂的免疫抑制方案,如果可能的话。肿瘤监测和早期发现新的癌症病变也很重要。
BACKGROUND: Lynch syndrome (HNPCC, hereditary non-polyposis colorectal cancer) is a syndrome of predisposition to cancer inherited in an autosomal dominant fashion. A person with Lynch syndrome has a considerably increased risk of colorectal cancer in comparison with the general population.
METHODS: We present a case of a 24-year-old man with Lynch syndrome (carrying an MLH1 gene mutation) who had colorectal adenocarcinoma diagnosed at 16 years of age. During this time, he had a colectomy performed and chemotherapy was administered (5-FU, CDDP, Leucovorin). Due to hepatic metastases, a decision was made to change chemotherapy to IF with ADM, as a result of which complete remission was obtained. However, kidney failure developed. Its cause was not fully elucidated. The patient was treated by hemodialyses. After six years of complete remission of cancer, kidney transplantation started to be considered. Before the patient was found eligible for transplantation, extended diagnostic tests were performed: whole body PET scan, tumour marker tests and intestinal endoscopy, which did not reveal any abnormalities. The patient had a family donor (mother) who had no contraindications to kidney donation. Kidney transplantation was performed on 15/10/2012. Induction with basiliximab was used, along with steroids, tacrolimus, and mycophenolate mofetil was also administered. Three months after the procedure CNI/mTOR conversion was performed. The maintenance treatment includes prednisone, everolimus and mycophenolate mofetil. One year after transplantation, renal function is normal. The patient is subjected to close oncological surveillance.
CONCLUSIONS: The risk of recurrence or new development of cancer related to immunosuppressive treatment should be considered on a case-by-case basis. In patients with a history or high risk of cancer, immunosuppression protocols based on the m-TOR pathway inhibitors should be used, if possible. Oncological surveillance and early detection of new cancer lesions are also important.