CAJ | 학술논문

目的探讨囊性胃肠间质瘤(GIST)的临床病理学和分子遗传学特征，并评估其生物学行为。方法对复旦大学附属中山医院2005年2月至2010年1月间收治的7例以囊性结构为主的GIST病例的临床资料进行回顾性分析，并检测其c-kit和PDGFR-α基因突变状况。结果 7例患者中男性2例，女性5例；年龄为46～76岁；肿瘤来源于胃4例，十二指肠1例，小肠2例;肿瘤大小6～16 cm,瘤体显著囊性变。镜下实性区可见肿瘤细胞，其中4例为上皮样细胞型,3例为梭形细胞型，核分裂像0～3个/50 HPF。按照美国国立卫生研究院(NIH)危险度分级,4例为高度危险,3例为中度危险；但依据形态学特点，3例为交界性,3例为低度恶性,1例为中度恶性。3例患者检测到c-kit基因第11外显子突变。经9～80个月的随访,7例患者均为无瘤生存，无一例出现复发或转移。结论囊性GIST临床表现为惰性生物学行为，恶性风险低。
목적 탐토낭성위장간질류(GIST)적림상병이학화분자유전학특정，병평고기생물학행위。방법 대복단대학부속중산의원2005년2월지2010년1월간수치적7례이낭성결구위주적GIST병례적림상자료진행회고성분석，병검측기c-kit화PDGFR-α기인돌변상황。결과 7례환자중남성2례，녀성5례；년령위46～76세；종류래원우위4례，십이지장1례，소장2례;종류대소6～16 cm,류체현저낭성변。경하실성구가견종류세포，기중4례위상피양세포형,3례위사형세포형，핵분렬상0～3개/50 HPF。안조미국국립위생연구원(NIH)위험도분급,4례위고도위험,3례위중도위험；단의거형태학특점，3례위교계성,3례위저도악성,1례위중도악성。3례환자검측도c-kit기인제11외현자돌변。경9～80개월적수방,7례환자균위무류생존，무일례출현복발혹전이。결론 낭성GIST림상표현위타성생물학행위，악성풍험저。
Objective To investigate the clinicopathological and molecular genetic characteristics of gastrointestinal stromal tumor (GISTs) with significant cystic changes, and to assess their biological behavior. Methods Clinicopathological features of 7 patients with cystic GISTs treated at the Zhongshan Hospital of Fudan University from February 2005 to January 2010 were summarized retrospectively. The mutations status of c-kit and PDGFR-α were analyzed. Results There were 2 males and 5 females aged from 46 to 76 years old. Primary site of GISTs included stomach (n=4), duodenum (n=1), and small intestinal (n=2). Tumor size ranged from 6 to 16 cm with obviously cystic changes. Tumor cells were found in the solid components under microscope, of which epithelioid cell type were found in 4 case and spindle cell type in 3 cases. The mitotic figures were no more than 3/50 HPF in all the patients. According to the NIH criteria, 4 were high-risk and 3 were low-risk. Based on morphological characteristics, 3 cases were as borderline tumor, 3 moderate-risk, and 1 moderate-risk. C ene mutation of exon 11 of c-kit were identified in 3 cases. During the follow up ranging from 9 to 80 months, all the 7 patients had cancer-free survival. Conclusion The biological behavior of cystic GIST is indolent with a low risk of malignancy and favorable prognosis.