Sun Ci-Yuan, Chiang Jy-Ming, Chen Tse-Ching, Hung Hsin-Yun, You Jeng-Fu
Division of Colon and Rectal Surgery, Department of Surgery, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan, Taiwan.
College of Medicine, Chang Gung University, No. 5, Fu-Hsing Rd. Kuei-Shan, Tao-Yuan, 333, Taiwan.
World J Surg Oncol. 2020 Aug 7;18(1):195. doi: 10.1186/s12957-020-01976-8.
Although hereditary non-polyposis colorectal cancer (HNPCC) could be subtyped into proficient or deficient mismatch repair gene expression (pMMR or dMMR), distinct clinical features between these two subgroups patients were rarely reported.
We retrospectively analyzed 175 hereditary non-polyposis colorectal cancer (HNPCC) patients between January 1995 and December 2012. Cox proportional hazards model was used to compare the differences between two subgroups.
Significant differences of disease free survival (DFS) and overall survival (OS) exist between dMMR and pMMR. In addition to other factors including younger mean age of diagnosis for dMMR patients (48.6 years vs. 54.3 years), operation type (more extended colectomy for dMMR 35.8% vs. 14.5%), tumor location (right colon predominance for dMMR 61.7% vs. 27.3% and more rectum cases for pMMR 41.8% vs. 11.7%), tumor differentiation (more poor differentiation for dMMR 23.3% vs. 9.0%), N staging (more N0 cases for dMMR 70.8% vs. 50.9%), more frequently presence of extra-colonic tumors for dMMR (16.7% vs.1.8%), and lower recurrence rates (9.1% vs.35.3%). Significantly different cumulative incidences of developing metachronous colorectal cancer were observed with 6.18 for pMMR patients and 20.57 person-years for dMMR patients (p < 0.001).
Distinct clinicopathological features significantly exist between dMMR and pMMR subtypes patient, MMR status should be consider to tailor operation types and follow up surveillance between these two subgroups patients who all fulfilled with Amsterdam-II criteria.
尽管遗传性非息肉病性结直肠癌（HNPCC）可分为错配修复基因表达 proficient 或 deficient（pMMR 或 dMMR）亚型，但这两个亚组患者之间明显的临床特征鲜有报道。
我们回顾性分析了1995年1月至2012年12月期间的175例遗传性非息肉病性结直肠癌（HNPCC）患者。采用Cox比例风险模型比较两个亚组之间的差异。
dMMR和pMMR在无病生存期（DFS）和总生存期（OS）方面存在显著差异。此外，还存在其他一些因素差异，包括dMMR患者诊断时的平均年龄更年轻（48.6岁对54.3岁）、手术类型（dMMR患者行更广泛结肠切除术的比例为35.8%对14.5%）、肿瘤位置（dMMR患者右半结肠占优势为61.7%对27.3%，pMMR患者直肠病例更多为41.8%对11.7%）、肿瘤分化（dMMR患者低分化更多为23.3%对9.0%）、N分期（dMMR患者N0病例更多为70.8%对50.9%）、dMMR患者更频繁出现结外肿瘤（16.7%对1.8%）以及更低的复发率（9.1%对35.3%）。观察到异时性结直肠癌发生的累积发病率有显著差异，pMMR患者为6.18人年，dMMR患者为20.57人年（p<0.001）。
dMMR和pMMR亚型患者之间存在明显不同的临床病理特征，对于所有符合阿姆斯特丹-II标准的这两个亚组患者，应考虑错配修复（MMR）状态来制定手术类型和后续监测方案。
