胃肠道间质肿瘤
Gastrointestinal stromal tumor
定义 英文原文（暂无中文）
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
别名
胃肠道间质肿瘤
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 青少年期、成年期、儿童期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 7
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SDHA | succinate dehydrogenase complex flavoprotein subunit A | Disease-causing germline mutation(s) (loss of function) in |
| SDHB | succinate dehydrogenase complex iron sulfur subunit B | Candidate gene tested in |
| SDHC | succinate dehydrogenase complex subunit C | Candidate gene tested in |
| KIT | KIT proto-oncogene, receptor tyrosine kinase | Disease-causing somatic mutation(s) in |
| KIT | KIT proto-oncogene, receptor tyrosine kinase | Disease-causing germline mutation(s) (gain of function) in |
| PDGFRA | platelet derived growth factor receptor alpha | Disease-causing germline mutation(s) in |
| PDGFRA | platelet derived growth factor receptor alpha | Disease-causing somatic mutation(s) in |
临床表型 18
极常见 99–80%3
- 胃肠道间质肿瘤 HP:0100723
- 胃新生物 HP:0006753
- 肉瘤 HP:0100242
常见 79–30%6
- 便秘 HP:0002019
- 吞咽困难 HP:0002015
- 疲乏 HP:0012378
- 胃肠道出血 HP:0002239
- 肠梗阻 HP:0005214
- 恶心和呕吐 HP:0002017
偶见 29–5%9
- 肝脏异常 HP:0001392
- 贫血 HP:0001903
- 食管肿瘤 HP:0100751
- 不规则色素沉着 HP:0007400
- 结肠新生物 HP:0100273
- 胃肠道新生物 HP:0007378
- 直肠肿瘤 HP:0100743
- 小肠新生物 HP:0100833
- 皮疹 HP:0000988
近两年的全球研究 2,485L2
2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-10病例报告Primary Hepatic Gastrointestinal Stromal Tumor: A Case Report
- 2026-10Abstracts
- 2026-10病例报告Cholecystogastric fistula masquerading as gastrointestinal stromal tumour: Unusual presentation of gallbladder adenomyomatosis - a case report
- 2026-10Paired tumor-normal targeted sequencing supports clonal independence of multiple primary malignancies in patients with gastrointestinal stromal tumors
- 2026-10开放获取Prevalence and Risk Factors for Financial Toxicity Among Sarcoma Patients During and Following Treatment Across the Lifespan
- 2026-10开放获取Prognostic factors of non-metastatic right colon adenocarcinoma: A multicentre retrospective analysis from the ATCCR database
- 2026-10开放获取Feasibility of lattice radiation therapy using a noncoplanar vertex arrangement and dynamic conformal arcs
- 2026-10综述Precision Oncology in Soft Tissue Sarcomas and Gastrointestinal Stromal Tumors
- 2026-09Anatomic Features Associated with Operative Strategy in Minimally Invasive Gastric GIST Resection: A Single-Center Retrospective Cohort Study
- 2026-09Cross-phase attention-based multi-phase CT deep learning for preoperative risk stratification of gastric gastrointestinal stromal tumors in a multicenter study
- 2026-09病例报告开放获取Metastasis of lung carcinoma in a pheochromocytoma
- 2026-09Pre-progression Surgery Added to Imatinib is Associated with Prolonged Survival in Oligometastatic GIST: A Covariate-Matched Study
- 2026-0918F-FDG PET/CT Manifestations of a Gastrointestinal Stromal Tumor Presenting With Predominant Hepatic and Peritoneal Metastases
- 2026-09开放获取Through-the-scope twin clip for closure of gastric endoscopic full-thickness resection defects: a retrospective comparative study
- 2026-09开放获取Key regulatory elements of the TGFβ-LRRC15 axis predict disease progression and immunotherapy resistance across cancer types
- 2026-09开放获取SMARCB1 (INI1)-Deficient Undifferentiated Rectal Carcinoma Mimicking Sarcoma: A Case Report and Literature Review
- 2026-09系统综述病例报告开放获取Pre-Spondylectomy Radiofrequency Ablation for Spinal Chordoma: An Illustrative Case and Systematic Review of Clinical Applications and Outcomes
- 2026-09综述开放获取Current Management and the New Paradigm for ALK+ NSCLC After CROWN
- 2026-09综述Precision therapeutic strategies for advanced gastrointestinal stromal tumors
- 2026-09开放获取Demethylase FTO attenuates atherosclerotic plaque via upregulating ABCA1 and ABCG1 expression by targeting ATG5
国家医保药品目录中点名本病的药品 1L2
出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 瑞派替尼片乙类谈判药品限既往接受过3种或以上激酶抑制剂(包括伊马替尼)的晚期胃肠间质瘤(GIST)成人患者。
境外已获批用于本病的药物 3L2
欧盟 3 项、美国 0 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
尚未获批的在研药物（1 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，不代表这个药已被证明有效，也不代表将来一定能上市，绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Olverembatinib美国2022-09-29Treatment of gastrointestinal stromal tumor (GIST)官方记录
数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 75L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 26
- 招募中NCT03594422A Study of HQP1351 in Patients With GIST or Other Solid Tumors中国研究中心 6 个：Beijing、Guangzhou、Shanghai、Wuhan、Zhengzhou
- 招募中NCT03716089Comparison of Tumor Efficacy Safety in Laparoscopic Resection of Gastrointestinal Stromal Tumors Between Favorable and Unfavorable Site中国研究中心 1 个：Fuzhou
- 招募中NCT04924075Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)中国研究中心 4 个：Beijing、Chengdu、Guangzhou、Shanghai
- 招募中NCT04933669Prospective Multicenter Clinical Study of Neoadjuvant Imatinib Mesylate for Gastrointestinal Stromal Tumors中国研究中心 1 个：Hangzhou
- 招募中NCT05408897Prediction of Postoperative Treatment Efficacy and Recurrence Risk of High-risk GIST Based on Liquid Biopsy MRD中国研究中心 1 个：Beijing
- 招募中NCT05464875A Multicenter Study of Avapritinib Efficacy and Safety of Metastatic or Unresectable Gastrointestinal Stromal Tumors中国研究中心 1 个：Guangzhou
- 招募中NCT05461664Avapritinib in the Treatment of Unresectable or Recurrent Metastatic GIST Non-exon18 Mutations of PDGFRA中国研究中心 1 个：Guangzhou
- 招募中NCT05751733Apatinib Mesylate Versus Standard Second-line TKI in the Treatment of Advanced GIST中国研究中心 1 个：Changsha
- 招募中NCT05938309A Cohort Study on the Safety of Laparoscopic Resection of 5cm or Larger Gastric Gastrointestinal Stromal Tumors中国研究中心 1 个：Fuzhou
- 尚未开始招募NCT05970900Preoperative Imatinib Mesylate Combined With Rectal-sparing Surgery in Patients With c-KIT Gene-mutant Rectal GIST中国研究中心 1 个：Fuzhou
- 招募中NCT06748690MCB vs EUS-FNA for Preoperative Pathological Evaluation of Gastric SMT中国研究中心 1 个：Beijing
- 招募中NCT06507683Evaluate the Efficacy and Safety of Radiotherapy Combined With Ripretinib in the Treatment of Unresectable Advanced GIST中国研究中心 1 个：Chongqing
- 招募中NCT06640361A Study of Olverembatinib in SDH-deficient GIST.中国研究中心 1 个：Guangzhou
- 招募中NCT07411118RCT of EFTR Versus STER for GIST Treatment中国研究中心 1 个：Shanghai
- 招募中NCT06760819A Study to Learn More About How Well Treatment With Sevabertinib (BAY 2927088) Tablets Works and How Safe it is in Participants Who Have a Solid Tumor With Mutations of the Human Epidermal Growth Factor Receptor 2 (HER2)中国研究中心 6 个：Beijing、Changsha、Hangzhou、Shanghai
- 招募中NCT06926374Prospective Evaluation of Cornerstone Robotics Sentire Surgical System in Major Gastrointestinal and Urologic Surgery中国研究中心 1 个：Hong Kong
- 招募中NCT07559864Comparing Regorafenib Combined With Envafolimab to Physician's Choice in Patients With Metastatic Gastrointestinal Stromal Tumors Harboring KIT Exon 17 Mutations Refractory to Standard Treatment中国研究中心 1 个：Beijing
- 招募中NCT07078136Multicenter Observational Study of Multimodal AI for Upper GI Mesenchymal Tumor Diagnosis中国研究中心 1 个：Wuhan
- 尚未开始招募NCT06772233A Study of Regorafenib Combined With Envafolimab for Metastatic Gastrointestinal Stromal Tumors With Kit Gene Exon 17 Mutation That Failed Standard Treatment中国研究中心 1 个：Beijing
- 尚未开始招募NCT07106411CEH-EUS for Differentiating GISTs and Leiomyomas: A Multicenter Prospective Self-Controlled Study中国研究中心 1 个：Wuhan
- 招募中NCT07218926A Study of IDRX-42 (GSK6042981) Versus (vs) Sunitinib in Participants With Gastrointestinal Stromal Tumors After Imatinib Therapy中国研究中心 9 个：Beijing、Chengdu、Chongqing、Guangzhou、Hangzhou、Jinan 等 9 地
- 招募中NCT07405125Safety of Robotic Surgery for GISTs at Special Anatomic Sites中国研究中心 1 个：Nanjing
- 仅邀请入组NCT07550582Mesenteric Vascular Preconditioning Combined With Laparoscopic and Endoscopic Cooperative Surgery for Submucosal Tumor at the Gastroesophageal Junction中国研究中心 1 个：Beijing
- 招募中NCT07581977A Novel Two-Tooth Clip for ESD and EFTR of GIST中国研究中心 1 个：Beijing
- 招募中NCT07379047Efficacy and Safety of NB003 in Patients With Advanced Gastrointestinal Stromal Tumors (GIST)中国研究中心 30 个：Beijing、Changchun、Changsha、Chengdu、Chongqing、Fuzhou 等 21 地
另有 1 项未列出。
其他状态的试验（49 项）
- 不再提供NCT01613053Continuation of Drug Supply in Chinese Patients After CAMN107DBR01study Termination中国研究中心 3 个：Chengdu、Guangzhou、Shanghai
- 已完成NCT06038552Comparison of Clinical Efficacy of Liver Resection, RFA, TACE, and Drug Therapy in Patients with GIST LM中国研究中心 1 个：Guangzhou
- 已完成NCT00793871Safety And Efficacy Study Of Sunitinib Malate In Chinese Patients With Imatinib Resistant Or Intolerant Malignant Gastrointestinal Stromal Tumor中国研究中心 4 个：Beijing、Nanjing
- 已完成NCT00785785A Study of Nilotinib Versus Imatinib in GIST Patients中国研究中心 4 个：Beijing、Guangzhou、Nanjing、Shanghai
- 已终止NCT00751036Nilotinib 800 Mg And Imatinib 800 Mg For The Treatment Of Patients With Gastrointestinal Stromal Tumors (Gist) Refractory To Imatinib 400 Mg中国研究中心 4 个：Beijing、Chengdu、Guangzhou、Shanghai
- 已完成NCT01267695Perioperative Imatinib Mesylate in Treating Patients With Locally Advanced Gastrointestinal Stromal Tumor中国研究中心 1 个：Beijing
- 已完成NCT01271712Study of Regorafenib as a 3rd-line or Beyond Treatment for Gastrointestinal Stromal Tumors (GIST)中国研究中心 4 个：Beijing、Guangzhou、Nanjing、Shanghai
- 状态未知NCT01768104ESTD vs. VATS for Upper Gastrointestinal Submucosal Tumors中国研究中心 1 个：Guangzhou
- 状态未知NCT02336724A Study of Famitinib in Patients With Gastrointestinal Stromal Tumor中国研究中心 1 个：Nanjing
- 已完成NCT01742299Study to Allow Access to Imatinib for Patients Who Are on Imatinib Treatment in a Novartis-sponsored Study and Are Benefiting From the Treatment as Judged by the Investigator中国研究中心 4 个：Beijing、Guangzhou、Nanjing、Shanghai
- 状态未知NCT02353052Prospective Cohort Study of the Clinical Applications for the Pathologic Type, Staging, and Grading of GIST中国研究中心 1 个：Shanghai
- 已完成NCT03238820Robotic Resection for Patients With Gastric Gastrointestinal Stromal Tumors: a Single-center Study中国研究中心 1 个：Nanjing
- 状态未知NCT03092128A Retrospective Pharmacokinetics and Pharmacogenomics Research of Imatinib in Gastrointestinal Stromal Tumor Treatment中国研究中心 1 个：Guangzhou
- 状态未知NCT04198337Endoscopic Full Thickness Resection for Gastric GIST中国研究中心 1 个：Hong Kong
- 已完成NCT05565066A Real-world Comparison of FNB and FNA in IHC-required Lesions.中国研究中心 1 个：Wuhan
- 状态未知NCT02426762Quick Skin Sealant in Closure of Surgical Wound After Laparoscopic Surgery中国研究中心 1 个：Guangzhou
- 状态未知NCT02776878A Clinical Trial Evaluating the Efficacy and Safety of Dasatinib in Refractory Metastatic GIST中国研究中心 7 个：Beijing、Chengdu、Guangzhou、Nanjing、Shanghai、Taiyuan
- 状态未知NCT02763748the Laparoscopic and Endoscopic Cooperative Surgery of Gastrointestinal Stromal Tumor中国研究中心 1 个：Xi'an
- 状态未知NCT02931981Serum Dickkopf-4 as a Biomarker for the Diagnosis and Treatment of Gastrointestinal Stromal Tumor中国研究中心 1 个：Shanghai
- 已完成NCT06628739Correlation Between Imatinib Trough Concentration and Efficacy in Advanced GIST Patients with Different Genotypes中国研究中心 1 个：Guangzhou
- 状态未知NCT03471273Comparison of Endoscopic and Laparoscopic Resection for Small Gastric Gastrointestinal Stromal Tumor中国研究中心 1 个：Guangzhou
- 已完成NCT03465722(VOYAGER) Study of Avapritinib vs Regorafenib in Patients With Locally Advanced Unresectable or Metastatic GIST中国研究中心 19 个：Beijing、Chengdu、Chongqing、Fuzhou、Guangzhou、Hangzhou 等 15 地
- 状态未知NCT03601234Laparoscopic Endoscopic Cooperative Surgery in the Treatment of Gastric Stromal Tumors中国研究中心 1 个：Xi'an
- 状态未知NCT04106024Efficacy and Safety of Anlotinib in Patients With Advanced Gastrointestinal Stromal Tumor After Failure of Imatinib: a Prospective, Single Arm and Multicenter Trial中国研究中心 1 个：Beijing
- 已完成NCT05800106A Bioequivalence Study of Sunitinib Malate Capsules.中国研究中心 1 个：Changchun
- 已终止NCT04000529Phase Ib Study of TNO155 in Combination With Spartalizumab or Ribociclib in Selected Malignancies中国研究中心 1 个：Chengdu
- 已完成NCT04254939A Study of CS3007 in Subjects With Gastrointestinal Stromal Tumor中国研究中心 16 个：Beijing、Chongqing、Fuzhou、Guangzhou、Hangzhou、Harbin 等 11 地
- 状态未知NCT04143048A Study on Non-invasive Early Diagnosis of Gastrointestinal Stromal Tumors and Differentiation of Benign and Malignant Nodules中国研究中心 1 个：Nanjing
- 已完成NCT04282980A Study of DCC-2618 (Ripretinib) In Patients With With Advanced Gastrointestinal Stromal Tumors (GIST)中国研究中心 9 个：Beijing、Chengdu、Chongqing、Fuzhou、Guangzhou、Shanghai
- 已终止NCT04409223Efficacy and Safety of Famitinib Versus Sunitinib in the Treatment of Advanced Gastrointestinal Stromal Tumour Patients After Failure of Imatinib中国研究中心 1 个：Beijing
- 进行中·不再招募NCT04584008Targeted Agent Evaluation in Digestive Cancers in China Based on Molecular Characteristics中国研究中心 1 个：Beijing
- 状态未知NCT05197933Safety of Laparoscopic Resection for Gastrointestinal Stromal Tumor on Unfavorable Anatomic Site of Stomach中国研究中心 1 个：Shanghai
- 已完成NCT04006769Entacapone Combination With Imatinib for Treatment of GIST中国研究中心 1 个：Changsha
- 已完成NCT05400018Clinical Evaluation of Genetron D842V PCR Kit in GIST Patients中国研究中心 3 个：Beijing、Harbin、Shanghai
- 已完成NCT04633122A Study to Assess DCC-2618 and Sunitinib in Patients With Advanced GIST After Treatment With Imatinib中国研究中心 18 个：Beijing、Chengdu、Chongqing、Fuzhou、Guangzhou、Hangzhou 等 12 地
- 状态未知NCT0500120468Ga-NOTA-RM26 PET/CT for the Detection of Gastrointestinal Stromal Tumor中国研究中心 1 个：Beijing
- 状态未知NCT05697107Ripretinib in Chinese Patients With Advanced GIST: a Real World Study中国研究中心 1 个：Beijing
- 状态未知NCT05132738Ripretinib Used for Resectable Metastatic GIST After Failure of Imatinib Therapy中国研究中心 1 个：Shanghai
- 状态未知NCT05895942Exploring the Molecular Mechanism Based on KIT Mutation中国研究中心 1 个：Xi'an
- 状态未知NCT05354388Ripretinib Combined With Surgery in Advanced GIST That Have Failed Imatinib Therapy: A Multicenter,Observational Study中国研究中心 1 个：Chengdu
另有 9 项未列出。
中国境外的在招试验 67L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国21韩国7法国7德国5意大利5英国4荷兰4西班牙4巴西3墨西哥3中国台湾2日本2丹麦2澳大利亚2另有 13 个国家/地区
CT.gov 报告命中 67 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07724626Hyperpolarized MRI for GIST on Imatinib中国台湾
- 招募中NCT07689201A Study of Velzatinib in Participants With Metastatic and/or Unresectable GIST After Imatinib, Sunitinib, Regorafenib, and Pimitespib日本
- 尚未开始招募NCT07647068Autologous Tumor Infiltrating Lymphocytes With Interleukin-2 for the Treatment of Locally Advanced, Recurrent or Metastatic Gastrointestinal Stromal Tumors美国
- 招募中NCT07618377Study of DCC-2618 in Patients With GIST After at Least 3 Prior Treatments日本
- 招募中NCT07406633KQB198 in Combination With Imatinib in Participants With Advanced/Metastatic GIST in 1st Line Setting (SynerGIST-1st Line)美国
- 招募中NCT07434843PH 2 Pemigatinib in SDH-deficient GIST美国
- 招募中NCT07171203Preoperative Imatinib and Fampridine in KIT Mutant Gastrointestinal Stromal Tumor美国
- 尚未开始招募NCT07273045A Comprehensive, Multinational GIST Registry德国
- 招募中NCT07096609Lenvatinib After Progression on Imatinib, Sunitinib, and Regorafenib for GIST Patients韩国
- 招募中NCT07124000DESTINY-PANTUMOUR04美国
- 尚未开始招募NCT07109024Resistance Profiling Using Functional Imaging and Next Generation Sequencing in Refractory Gastrointestinal Stomal Tumors (GIST)德国
- 招募中NCT07673861Clinical Utility of ctDNA in Detecting Resistance Mechanisms and Delivering Precision Medicine to Cancer Patients英国
- 招募中NCT07522762Long-term Survivorship Challenges of Advanced/Metastatic GIST Patients Responding to Tyrosine Kinase Inhibitor Treatment: an Observational Study荷兰
- 招募中NCT06655246A Study of Ziftomenib in Combination With Imatinib in Patients With Advanced Gastrointestinal Stromal Tumors (GIST)美国
- 招募中NCT06805825A Study of the c-Kit Specific Antibody-Drug Conjugate NN3201 for Advanced and/or Metastatic Solid Tumors Known to Express c-Kit美国
外部标识与链接
OrphanetOMIM:175510OMIM:606764MONDO:0011719GARD:8598ICD-10 C26.9ICD-11 2B5B、XH9HQ1ClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）