PDGFRA基因突变型胃肠间质瘤生物学行为再研究  

Reappraisals of biological behaviors of PDGFRA mutant gastrointestinal stromal tumor

作　　者：袁伟 黄雯 任磊 梁怀予 董思瑶 都向阳 徐晨 方勇 沈坤堂 侯英勇 Yuan Wei;Huang Wen;Ren Lei;Liang Huaiyu;Dong Siyao;Du Xiangyang;Xu Chen;Fang Yong;Shen Kuntang;Hou Yingyong(Department of Pathology,Zhongshan Hospital,Fudan University,Shanghai 200032,China;Department of General Surgery,Zhongshan Hospital,Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属中山医院病理科,上海200032 [2]复旦大学附属中山医院普外科,上海200032

出　　处：《中华病理学杂志》2024年第1期46-51,共6页Chinese Journal of Pathology

基　　金：上海市科学技术委员会科研计划项目(19MC1911000);复旦大学附属中山医院临床研究专项基金(2020ZSLC01)。

摘　　要：目的:探讨血小板源生长因子α受体(PDGFRA)基因突变型胃肠间质瘤(gastrointestinal stromal tumor,GIST)的生物学行为谱系,比较复旦大学附属中山医院良恶性评估方法与改良版美国国立卫生研究院(NIH)危险度分级的临床应用效能。方法:收集复旦大学附属中山医院2009—2020年手术切除PDGFRA基因突变型GIST 119例,复习其临床病理资料、随访记录后续治疗并进行统计学分析。结果:在119例PDGFRA基因突变型GIST中,男性79例,女性40例;年龄25~80岁,中位年龄60岁,此组病例均来源于胃。其中115例患者术后获得随访,随访时间1~154个月,13例疾病进展。总体5年无瘤生存率为90.1%,总生存率94.1%。参考改良版NIH危险度分级,极低危、低危、中危、高危组分别8、32、38和35例,其中5年无瘤生存率分别为100.0%、95.6%、94.3%、80.5%,非高危3组预后差异无统计学意义,仅高危与非高危组差异有统计学意义(P=0.029),而5年总生存率分别为100.0%、100.0%、95.0%、89.0%,差异均无统计学意义(P=0.221)。按照复旦大学附属中山医院良恶性评估方法,非恶性43例(37.4%),低度恶性56例(48.7%),中度恶性9例(7.8%),高度恶性7例(6.1%),5年无瘤生存率分别为100.0%、91.7%、77.8%、38.1%,差异有统计学意义(P<0.001),5年总生存率分别为100.0%、97.5%、77.8%、66.7%,差异有统计学意义(P<0.001)。结论:PDGFRA基因突变型GIST包含良性到高度恶性广谱生物学行为谱系,按照复旦大学附属中山医院良恶性评估方法,非恶性和低度恶性多见,术后预后好,少部分为中~高度恶性,单纯手术切除预后差。此型GIST总体上表现为相对惰性的生物学行为是源于中~高度恶性构成比低。改良版NIH方案不能有效地对PDGFRA突变型GIST进行危险度分层。Objective To investigate the biological behavior spectrum of platelet-derived growth factor alpha receptor(PDGFRA)-mutant gastrointestinal stromal tumor(GIST),and to compare the clinical values of the Zhongshan method of benign and malignant evaluation with the modified National Institutes of Health(NIH)risk stratification.Methods A total of 119 cases of GIST with PDGFRA mutation who underwent surgical resection at Zhongshan Hospital,Fudan University from 2009 to 2020 were collected.The clinicopathological data,follow-up records,and subsequent treatment were reviewed and analyzed statistically.Results There were 79 males and 40 females.The patients ranged in age from 25 to 80 years,with a median age of 60 years.Among them,115 patients were followed up for 1-154 months,and 13 patients progressed to disease.The 5-year disease-free survival(DFS)and overall survival(OS)were 90.1%and 94.1%,respectively.According to the modified NIH risk stratification,8 cases,32 cases,38 cases,and 35 cases were very-low risk,low risk,intermediate risk,and high risk,and 5-year DFS were 100.0%,95.6%,94.3%,and 80.5%,respectively.There was no significant difference in prognosis among the non-high risk groups,only the difference between high risk and non-high risk groups was significant(P=0.029).However,the 5-year OS was 100.0%,100.0%,95.0%and 89.0%,and there was no difference(P=0.221).According to the benign and malignant evaluation Zhongshan method,43 cases were non-malignant(37.4%),56 cases were low-grade malignant(48.7%),9 cases were moderately malignant(7.8%),and 7 cases were highly malignant(6.1%).The 5-year DFS were 100.0%,91.7%,77.8%,38.1%,and the difference was significant(P<0.001).The 5-year OS were 100.0%,97.5%,77.8%,66.7%,the difference was significant(P<0.001).Conclusions GIST with PDGFRA gene mutation shows a broad range of biological behavior,ranging from benign to highly malignant.According to the Zhongshan method,non-malignant and low-grade malignant tumors are common,the prognosis after surgery is good,while the fewer med

关 键 词：胃肠道间质肿瘤 受体 血小板源生长因子α 预后 

分 类 号：R735[医药卫生—肿瘤]