合并结直肠癌双原发癌患者的临床病理特征、MSI及K-ras基因突变分析  

Clinicopathological characteristics,MSI and K-ras gene mutations of double primary malignancies associated with colorectal cancer

作　　者：黎琪[1] 张标[1] 牛丰南[1] 叶庆[1] 陈骏[1] 樊祥山[1] Li Qi;Zhang Biao;Niu Fengnan;Ye Qing;Chen Jun;Fan Xiangshan(Department of Pathology,the Affiliated Drum Tower Hospital,Nanjing University Medical School,Nanjing 210008,China)

机构地区：[1]南京大学医学院附属鼓楼医院病理科,南京210008

出　　处：《中华医学杂志》2020年第4期301-306,共6页National Medical Journal of China

基　　金：国家自然科学基金(81502244,81671113);江苏省"十三五"科教强卫工程(QNRC2016001,QNRC2016026)。

摘　　要：目的分析合并结直肠癌双原发癌患者的临床病理特点,探讨合并结直肠癌双原发癌的微卫星不稳定性(MSI)及K-ras基因突变情况。方法收集2015年1月至2016年12月南京鼓楼医院经手术治疗的结直肠肿瘤患者临床病理资料,回顾性分析患者临床病理特征,采用多重荧光PCR及等位基因特异性扩增法分别检测结直肠癌组织中MSI状态及K-ras基因突变情况。结果合并结直肠癌双原发癌患者占同期收治结直肠癌的5.2%(55/1066)。合并结直肠癌双原发癌患者性别、年龄、结直肠癌发病部位、T分期、N分期等构成比与同期收治的单发结直肠癌患者差异均无统计学意义(均P>0.05);两者TNM分期构成比差异有统计学意义(P<0.05)。同期单发结直肠癌患者及合并结直肠癌双原发癌患者的结直肠病变部位均以直肠多见,分别为35.5%(359/1011)和41.8%(23/55)。55例合并结直肠癌双原发癌患者中,异时性双原发癌48例,同时性双原发癌7例;其他肿瘤先发41例;结直肠癌外肿瘤以消化系统肿瘤最为常见[41.8%(23/55)],最常见器官为胃[20%(11/55)]。与同期单发结直肠癌比,合并结直肠癌双原发癌患者的微卫星高度不稳定型(MSI-H)发生率高,差异有统计学意义(P<0.05);K-ras基因突变率差异无统计学意义(P>0.05)。合并结直肠癌双原发癌患者中仅2例患者同时存在MSI-H状态和K-ras基因突变。结论直肠是结直肠癌患者最常见病变部位,胃是合并结直肠癌双原发癌患者的结直肠癌外肿瘤最常见器官;与单发结直肠癌患者相比,合并结直肠癌双原发癌患者存在MSI-H发生率高的风险,而K-ras基因突变发生率无明显差异。Objective To investigate the clinicopathological characteristics,MSI and K-ras mutation of double primary malignancies(DPM)associated with colorectal cancer(CRC).Methods From January 2015 to December 2016,the clinicopathological data of CRC patients treated by surgery in the Affiliated Drum Tower Hospital of Nanjing University Medical School were collected,and the clinical data was analyzed.Multiplex real-time fluorescence quantitative PCR and amplification refractory mutation was performed to identify MSI and K-ras gene mutations.Results Of all patients with CRC,5.2%(55/1066)were DPM.There was no significant difference in the male and female ratio,age,colorectal cancer site,T stage,N stage composition ratio between DPM patients with CRC and patients with single CRC(P>0.05).There were significant difference of TNM stage between the two group(P<0.05).The most frequent location of CRC was the colon in both DPM patients with CRC and patients with single CRC[35.5%(359/1011)and 41.8%(23/55),respectively].Of 55 DPM patients with CRC,48 were metachronous DPM patients,7 were synchronous DPM patients and 41 were colorectal cancer first.In extracolonic organ,digestive system(23/55)was the most commonly occurring system and stomach(11/55)was the most common lesion.DPM patients with CRC had higher incidence of MSI-H than patients with single CRC(P<0.05).There was no significant difference of K-ras gene mutation between DPM patients with CRC and patients with single CRC(P>0.05).MSI-H and K-ras mutation were present in only 2 patients of DPM patients with CRC.Conclusions The rectum is the most common lesion site in CRC patients.The stomach is the most common extracolonic organ of DPM patients with CRC.DPM patients with CRC has high risk of MSI-H,but no significant difference in the incidence of K-ras mutation.

关 键 词：多原发性肿瘤 结直肠肿瘤 微卫星不稳定性 

分 类 号：R735[医药卫生—肿瘤]