McNamara Kate L, Aronson Melyssa D, Cohen Zane
Lunenfeld-Tanenbaum Research Institute, 60 Murray Street Box 31 Rm L6-304G, Toronto, ON, M5T3L9, Canada.
Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Joseph and Wolf Lebovic Health Complex, L3-012, 60 Murray Street 3rd Floor, Toronto, ON, M5T3L9, Canada.
Int J Colorectal Dis. 2016 Jan;31(1):9-13. doi: 10.1007/s00384-015-2398-0. Epub 2015 Sep 28.
Lynch syndrome and chronic inflammatory bowel disease are two important risk factors for colorectal cancer. It is unclear whether Lynch syndrome patients with inflammatory bowel disease are at sufficiently increased risk for colorectal cancer to warrant prophylactic colectomy. This study aims to identify all cases of Lynch syndrome and concurrent inflammatory bowel disease in a large familial gastrointestinal cancer registry, define incidence of colorectal cancer, and characterize mismatch repair protein gene mutation status and inflammatory bowel disease-associated colorectal cancer risk factors.
We retrospectively identified and collected clinical data for all cases with confirmed diagnoses of Lynch syndrome and inflammatory bowel disease in the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital in Toronto, Canada.
Twelve cases of confirmed Lynch syndrome, and concurrent inflammatory bowel disease were identified. Four cases developed colorectal cancer. An additional five cases had colectomy; one was performed for severe colitis, and four were performed for low-grade dysplasia. None of these surgical specimens contained malignancy or high-grade dysplasia.
The presentation of Lynch syndrome with inflammatory bowel disease is uncommon and not well described in the literature. This small but important series of twelve cases is the largest reported to date. In this series, patients with Lynch syndrome and concurrent inflammatory bowel disease do not appear to have sufficiently increased risk for colorectal cancer to recommend prophylactic surgery. Therefore, the decision to surgery should continue to be guided by surgical indications for each disease. Further evaluation of this important area will require multi-institutional input.
林奇综合征和慢性炎症性肠病是结直肠癌的两个重要危险因素。目前尚不清楚患有炎症性肠病的林奇综合征患者患结直肠癌的风险是否充分增加，从而需要进行预防性结肠切除术。本研究旨在在一个大型家族性胃肠道癌登记处识别所有林奇综合征和并发炎症性肠病的病例，确定结直肠癌的发病率，并描述错配修复蛋白基因突变状态以及炎症性肠病相关的结直肠癌危险因素。
我们回顾性地识别并收集了加拿大多伦多西奈山医院家族性胃肠道癌登记处所有确诊为林奇综合征和炎症性肠病的病例的临床数据。
共识别出12例确诊为林奇综合征并并发炎症性肠病的病例。4例发生了结直肠癌。另外5例接受了结肠切除术；1例因严重结肠炎进行手术，4例因低度发育异常进行手术。这些手术标本均未发现恶性肿瘤或高级别发育异常。
林奇综合征合并炎症性肠病的情况并不常见，文献中对此描述也不多。这一包含12例病例的小而重要的系列是迄今为止报道的最大系列。在这个系列中，患有林奇综合征并并发炎症性肠病的患者患结直肠癌的风险似乎没有充分增加，因此不建议进行预防性手术。因此，手术决策应继续以每种疾病的手术指征为指导。对这一重要领域的进一步评估将需要多机构的参与。
