CAJ | 학술논문

背景：范科尼贫血（ FA）是一种常染色体或X-连锁隐性遗传性疾病，由调节DNA损伤的FA通路相关基因突变引起，以先天畸形、骨髓衰竭以及高度肿瘤易感性为主要表现。目的：探讨范科尼贫血互补群D2（ FANCD2）在结直肠癌中的表达及其与预后的关系。方法：收集2012年5月~2013年9月广州市第一人民医院外科新鲜结直肠癌及其相应癌旁非癌组织手术切除标本56例；纳入2008年1月~2009年4月于广州市第一人民医院行结直肠癌手术患者93例，收集其结直肠癌手术石蜡标本。以qPCR法检测56例患者的结直肠癌及其相应癌旁非癌组织标本FANCD2 mRNA表达水平，以免疫组化法检测56例患者中49例的结直肠癌及其相应癌旁非癌组织标本以及93例结直肠癌标本的FANCD2蛋白表达水平。对93例结直肠癌患者进行随访，分析FANCD2表达与预后的关系。结果：FANCD2 mRNA在结直肠癌组织中的表达水平显著高于癌旁非癌组织[0.102（0.047，0.163）对0.051（0.025，0.095）]（P=0.007）；FANCD2 mRNA表达水平与淋巴结转移和Dukes分期相关（P<0.05）。结肠癌组织FANCD2蛋白阳性表达率为77.6%（38/49），癌旁非癌组织FANCD2蛋白阳性表达率为22.4%（11/49）；FANCD2蛋白表达与淋巴结转移、Dukes分期相关（ P<0.05）。结直肠癌组织FANCD2蛋白阳性表达患者的5年生存率较阴性表达患者显著降低（35.5%对71.0%）（P<0.01）。结论：FANCD2表达水平与结直肠癌恶性潜能相关，可作为预测结直肠癌预后的指标。
배경：범과니빈혈（ FA）시일충상염색체혹X-련쇄은성유전성질병，유조절DNA손상적FA통로상관기인돌변인기，이선천기형、골수쇠갈이급고도종류역감성위주요표현。목적：탐토범과니빈혈호보군D2（ FANCD2）재결직장암중적표체급기여예후적관계。방법：수집2012년5월~2013년9월엄주시제일인민의원외과신선결직장암급기상응암방비암조직수술절제표본56례；납입2008년1월~2009년4월우엄주시제일인민의원행결직장암수술환자93례，수집기결직장암수술석사표본。이qPCR법검측56례환자적결직장암급기상응암방비암조직표본FANCD2 mRNA표체수평，이면역조화법검측56례환자중49례적결직장암급기상응암방비암조직표본이급93례결직장암표본적FANCD2단백표체수평。대93례결직장암환자진행수방，분석FANCD2표체여예후적관계。결과：FANCD2 mRNA재결직장암조직중적표체수평현저고우암방비암조직[0.102（0.047，0.163）대0.051（0.025，0.095）]（P=0.007）；FANCD2 mRNA표체수평여림파결전이화Dukes분기상관（P<0.05）。결장암조직FANCD2단백양성표체솔위77.6%（38/49），암방비암조직FANCD2단백양성표체솔위22.4%（11/49）；FANCD2단백표체여림파결전이、Dukes분기상관（ P<0.05）。결직장암조직FANCD2단백양성표체환자적5년생존솔교음성표체환자현저강저（35.5%대71.0%）（P<0.01）。결론：FANCD2표체수평여결직장암악성잠능상관，가작위예측결직장암예후적지표。
Background:Fanconi anemia( FA ),an autosomal or x-linked recessive inherited disease,is caused by gene mutation related to FA pathway of DNA damage and with the clinical features of congenital malformation,bone marrow failure and susceptibility to cancer. Aims:To investigate the expression of Fanconi anemia complementation group D2 (FANCD2)in colorectal cancer and its correlation with prognosis. Methods:Fifty-six surgical resected specimens of colorectal cancer tissue and para-cancer noncancerous tissue from May 2012 to September 2013 at Guangzhou First People’s Hospital were obtained. Ninety-three patients with colorectal cancer from January 2008 to April 2009 at Guangzhou First People ’s Hospital were enrolled and the specimens of colorectal cancer tissue were obtained. The expression of FANCD2 mRNA in 56 specimens of colorectal cancer tissue and para-cancer noncancerous tissue was determined by qPCR. The expression of FANCD2 protein in 49 of 56 specimens of colorectal cancer tissue and para-cancer noncancerous tissue and 93 specimens of colorectal cancer tissue was determined by immunohistochemistry. Follow up was conducted in 93 patients and the correlation between the expression of FANCD2 and prognosis was analyzed. Results:Expression of FANCD2 mRNA was significantly higher in colorectal cancer tissue than that in para-cancer noncancerous tissue [0.102(0.047,0. 163)vs. 0. 051(0. 025,0. 095)](P =0. 007). Expression of FANCD2 mRNA was significantly correlated with lymph node metastasis and Dukes stage( P <0. 05 ). Positivity rates of FANCD2 protein expression in colorectal cancer tissue and para-cancer noncancerous tissue were 77. 6%(38/49)and 22. 4%(11/49),respectively. Expression of FANCD2 protein was significantly correlated with lymph node metastasis and Dukes stage(P<0. 05). The overall 5-year survival rate was significantly lower in patients with positive expression of FANCD2 protein than that in patients with negative expression of FANCD2 protein(35. 5% vs. 71. 0%)(P<0. 01). Conclusions:FANCD2 is associated with malignant potential of colorectal cancer and could be a potential marker for prognosis.