摘要
目的分析Ⅰ型神经纤维瘤病(NF1)相关胃肠间质瘤(GIST)的临床病理特征及靶向治疗效果。方法通过中国知网、万方数据库、维普中文科技期刊、PubMed等数据库,以“Gastrointestinal Stromal Tumor”,“neurofibromatosis type 1/von Recklinghausen’s disease”,“Ⅰ型神经纤维瘤病及间质瘤”为关键词,对2000年1月至2024年5月间发表的中英文献进行检索,并提取相关资料。收集本院2016年1月至2024年5月经手术切除病理诊断为GIST患者(n=52)的资料。分析两组临床病理和基因突变特征。结果纳入文献167篇,共335例NF1相关GIST患者,男149例,女186例,诊断年龄(53.4±12.3)岁。肿瘤直径(5.2±4.7)cm,60.1%为多发病灶,65.0%发生于小肠,91.2%(147/161)为梭形细胞型,核分裂象计数≤5/50高倍镜视野者占84.2%,50.4%为风险度极低/低危。免疫组织化学检测CD177、DOG-1及CD34阳性率分别为99.0%、90.9%及86.9%。KIT/PDGFRA基因突变率为7.9%。与本院52例散发性GIST相比,NF1相关GIST患者在平均诊断年龄、多发病灶、发病部位、肿瘤直径、核分裂计数及KIT/PDGFRA基因突变方面差异均有统计学意义(P<0.05),而在性别、临床症状、肿瘤形态、免疫组化及风险度分级方面差异均无统计学意义(P>0.05)。36例NF1相关GIST患者接受伊马替尼治疗:未手术或术前新辅助治疗5例,客观缓解率为40%(2/5),疾病控制率为80%(4/5)。术后辅助治疗18例,其中2例复发。姑息性切除或复发治疗13例,客观缓解率为7.7%(1/13),疾病控制率为38.5%(5/13)。结论NF1相关GIST发病年龄早,肿瘤多发病灶,好发于小肠,病理以梭形细胞型为主,免疫组化CD177、DOG-1高表达,KIT/PDGFRA基因突变极低。主要治疗手段以手术为主,伊马替尼靶向治疗获益少。
Objective To analyze the clinical and pathological characteristics and targeted therapeutic effects of gastrointestinal stromal tumors(GIST)associated with neurofibromatosis type 1(NF1).Methods A literature search was conducted in databases such as China National Knowledge Infrastructure,Wanfang Data,VIP Chinese Science and Technology Journals,and PubMed using keywords"Gastrointestinal Stromal Tumor,""neurofibromatosis type 1/von Recklinghausen's disease,"and"Type 1 neurofibromatosis and stromal tumors".Relevant data from articles published between January 2000 and May 2024 were extracted.Additionally,data from patients diagnosed with GIST through surgical resection at our hospital from January 2016 to May 2024 were collected.Clinical pathological and genetic mutation characteristics of the two groups were analyzed.Results A total of 167 articles were included,involving 335 patients with NF1-related GIST,149 males and 186 females,with an diagnostic age of(53.4±12.3)years.The tumor diameter was(5.2±4.7)cm,with 60.1%(191/318)being multiple lesions,65.0%(277/426)occurring in the small intestine,91.2%(147/161)being spindle cell type,and 84.2%(149/177)having a mitotic count of≤5/50 high-power fields.50.4%(64/127)were classified as very low/low risk.The positive rates for immunohistochemical tests for CD177,DOG-1,and CD34 were 99.0%(202/204),90.9%(40/44),and 86.9%(152/175),respectively.The mutation rate for KIT/PDGFRA genes was 7.9%(13/165).Compared with 52 cases of sporadic GIST in our hospital,there were statistically significant differences in average diagnostic age,multiple lesions,site of onset,tumor diameter,mitotic count,and KIT/PDGFRA gene mutation(P<0.05),while there were no significant differences in gender,clinical symptoms,tumor morphology,immunohistochemistry,and risk grade(P>0.05).Thirty-six patients with NF1-related GIST received imatinib treatment:5 cases before surgery or as neoadjuvant therapy,with an objective response rate of 40%(2/5)and a disease control rate of 80%(4/5).Postoperative adjuvant therapy was given to 18 cases,with 2 recurrences.For palliative resection or recurrent treatment,there were 13 cases,with an objective response rate of 7.7%(1/13)and a disease control rate of 38.5%(5/13).Conclusion NF1-related GIST has an earlier age of onset,tends to be multiple lesions,is more common in the small intestine,is mainly spindle cell type pathologically,has high expression of CD177 and DOG-1 in immunohistochemistry,and has a very low rate of KIT/PDGFRA gene mutation.The main treatment is surgery,and the benefit from imatinib targeted therapy is minimal.
出处
《浙江临床医学》
2025年第2期259-261,265,共4页
Zhejiang Clinical Medical Journal
关键词
Ⅰ型神经纤维瘤病
胃肠间质瘤
临床病理特征
靶向治疗
Neurofibromatosis typeⅠ
Gastrointestinal stromal tumor
Clinical and pathological characteristics
Targeted therapy
