Gozdowska Jolanta, Bieniasz Monika, Wszoła Michał, Kieszek Rafał, Domagała Piotr, Drozdowski Jakub, Tomaszek Aleksandra, Kwiatkowski Artur, Chmura Andrzej, Durlik Magdalena
Department of Transplantation Medicine and Nephrology, Medical University of Warsaw, Institute of Transplantology, Warsaw, Poland.
Department of General and Transplantation Surgery, Medical University of Warsaw, Institute of Transplantology, Warsaw, Poland.
Ann Transplant. 2014 Mar 7;19:124-8. doi: 10.12659/AOT.890250.
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.
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.
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.
林奇综合征（遗传性非息肉病性结直肠癌，HNPCC）是一种以常染色体显性方式遗传的癌症易患综合征。与普通人群相比，林奇综合征患者患结直肠癌的风险显著增加。
我们报告一例24岁男性林奇综合征患者（携带MLH1基因突变），其在16岁时被诊断为结直肠癌。在此期间，他接受了结肠切除术并进行了化疗（5-氟尿嘧啶、顺铂、亚叶酸钙）。由于肝转移，决定将化疗方案改为含阿霉素的IF方案，结果实现了完全缓解。然而，出现了肾衰竭。其病因未完全阐明。患者接受了血液透析治疗。在癌症完全缓解六年之后，开始考虑进行肾移植。在患者被认定符合移植条件之前，进行了全面的诊断检查：全身PET扫描、肿瘤标志物检测和肠道内窥镜检查，均未发现异常。患者有一位家庭供体（母亲），其没有肾脏捐赠的禁忌证。于2012年10月15日进行了肾移植。使用巴利昔单抗进行诱导治疗，同时使用了类固醇、他克莫司，还给予了霉酚酸酯。术后三个月进行了CNI/mTOR转换。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。患者接受密切的肿瘤学监测。
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风险。对于有癌症病史或高癌症风险的患者，应尽可能使用基于m-TOR途径抑制剂的免疫抑制方案。肿瘤学监测和新癌症病灶的早期检测也很重要。
