胃肠道间质瘤的诊治新进展

胃肠道间质瘤（GIST）是胃肠道最常见的间叶源性肿瘤,原癌基因c—kit突变是其主要发病机制之一。以CD117为代表的免疫织化学染色在其诊断中是一个重要的决定性因素。手术完整切除仍然是其首选治疗,分子靶向治疗是进展期GIST治疗上的一次飞跃,本文对GIST的诊治新进展进行综述。     

胃肠间质瘤个体化治疗策略的探讨

胃肠间质瘤（GIST）是最常见的胃肠道间叶源性肿瘤，多见于胃和小肠，GIST多具有恶性潜能，生物学行为可以从良性到高度恶性不等。GIST的预后与肿瘤的发病部位、瘤体大小、核分裂数以及肿瘤是否破裂密切相关，伊马替尼辅助治疗明显延长了GIST患者的生存时间。近年对于GIST患者实施个体化治疗的理念也得到了越来越多的重视，本文就GIST个体化治疗的策略研究进行阐述。     

胃肠道间质瘤的诊断和治疗

编者按胃肠道间质瘤(gastrointestinal stromal tumors,GIST)是一类独立来源于胃肠道间叶组织、以梭形细胞为主非定向分化的肿瘤,因其多发生于空腔脏器的肌层,曾被误认为平滑肌瘤、上皮平滑肌肉瘤等.近几年,我们对GIST的认识从各个方面都有了很大的提高.GIST的影像学诊断是目前诊断GIST的主要方法,其影像学特征对判定肿瘤生物学行为,了解肿瘤周围组织浸润情况及有无远处转移提供一定的信息;对于疾病的早期发现、及时治疗、治疗方案的选择以及预后有着重要意义.在GIST的病理研究方面取得了不少进展,为GIST诊断和危险度判定提供了重要依据,现如今,GIST的综合治疗已经越来越受到人们的重视,相信随着研究的不断深入,会有更多更好的办法应用于GIST的治疗,我们对此充满信心.山西医科大学第一医院放射科李健丁教授特组织本期焦点论坛,将围绕GIST的影像诊断、病理诊断、临床治疗问题进行初步讨论,希望能引起同行专家的兴趣,提出更深入的见解.     

胃肠道间质瘤的诊断策略及其临床价值分析

胃肠道间质瘤(GIST)是胃肠道最常见的间叶源性肿瘤,起源于胃肠道Cajal间质细胞(ICC),是一类缺乏分化或未定向分化的非上皮性肿瘤。研究表明,GIST具有恶性潜能,但其临床表现无特异性,且病变多位于黏膜下,诊断相对困难。因此,GIST的早期识别及诊断显得尤其重要。近年来学者们研究了多种关于GIST的诊断策略,本文就目前GIST的诊断策略及其临床价值做一综述。     

野生型胃肠道间质瘤的诊疗进展

胃肠道间质瘤(GIST)是最常见的消化道间叶组织来源肿瘤,约10%的患者不伴有KIT和PDGFRA基因突变,称为野生型GIST。根据发病机制,可分为琥珀酸脱氢酶(SDH)缺陷型、BRAF基因突变型和1型神经纤维瘤病(NF1)基因型等不同亚型,另有约半数患者的发病机制尚不明确。野生型GIST的临床特征、病理表现和疾病治疗均具有一定特殊性。本文就野生型GIST的分子基础、发病机制和临床诊疗进展作一综述。     

胃肠道间质瘤的临床特征及治疗进展

胃肠道间质瘤(gastrointestinal stromal tumor,GIST)是胃肠道最常见的间叶性肿瘤,近年来随着分子生物学、组织病理学和临床医学的研究进展,对其认识不断加深.传统手术与分子靶向药物相结合对GIST的治疗显得尤为重要,以伊马替尼和舒尼替尼等药物为代表的多靶点和多激酶抑制剂在治疗不可切除及复发性GIST中更是受到高度关注.本文主要对该病的基因分析、病理组化特点、手术及辅助治疗相关进展作一综述.     

Clinical and prognostic analysis of 67 patients with gastrointestinal stromal tumors

目的 研究胃肠道间质瘤(GIST)的临床和病理特点及预后.方法 回顾性分析我院近8年来确诊的67例GIST患者的临床资料和病理特点,同时追踪其临床病情进展.结果 67例GIST患者,男女比例为1:1.23,发病年龄19 ～ 79岁,中位发病年龄54岁.发病部位主要为胃(65.7％)和小肠(26.9％).临床表现主要为腹部不适或腹痛(46.3％)和消化道出血( 29.9％),其次为腹部包块(9.0％).GIST的治疗主要以手术为主,首发患者中多表现为原发局限性肿瘤(94.9％).肿瘤直径为5.2 cm.免疫组织化学染色显示CD117阳性率为94.6％,CD34阳性率为91.5％.67例患者均随访,随访时间l～91个月,中位随访时间24个月.患者1年、3年和5年总体生存率分别为95％、92％和90％.结论 胃肠道间质瘤多发于胃和小肠,其临床病理特点不同于其他常见的消化道肿瘤,CD117和CD34分子对其诊断较为重要,GIST的治疗主要以手术为主,预后取决于肿瘤的恶性程度和侵袭危险程度.     

胃小间质瘤的自然转归和手术预后研究

胃肠道间质瘤(GIST)是常见的起源于固有肌层的间叶组织源性肿瘤,小间质瘤系指直径2 cm的GIST。随着内镜诊断技术的发展,临床上发现了越来越多的小GIST,其治疗逐渐引起重视。本文就胃小GIST的研究现状、自然转归和手术预后情况作一综述。     

影像学检查在胃肠道间质瘤诊断与疗效评估中的应用比较

胃肠道间质瘤(GIST)是胃肠道最常见的间叶性肿瘤,近年来由于影像学和病理学研究的进展,人们对其认识也不断加深,各种影像学检查对GIST术前诊断的报道不断增多.此文将对影像学检查在GIST诊断及疗效评估中的应用作一简要阐述,探讨GIST诊断的现状和各种影像学检查的优缺点,为临床选择何种影像学检查提供参考.     

胃肠道间质瘤的治疗进展

胃肠道间质瘤(GIST)是消化道最常见的间叶组织源性肿瘤,其确诊主要依赖于组织学证据和免疫组化标志。由于酪氨酸激酶抑制剂伊马替尼的成功应用,GIST的治疗方法已由原先简单的手术切除发展为针对病情采取包括手术、内镜治疗、辅助治疗和新辅助治疗在内的个体化治疗策略。此文对近年来GIST的各种治疗进展作一综述。     

CT和超声内镜诊断胃肠道间质瘤的现状

胃肠道间质瘤是原发于胃肠道和腹部的间叶源性肿瘤,绝大多数存在c-Kit基因突变。内镜检查胃肠道间质瘤有一定困难,而CT和超声内镜结合有助于胃肠道间质瘤的定位和良、恶性的判断,对指导临床治疗和估计预后有一定的价值。     

胃肠道间质瘤病理诊断新进展

胃肠道间质瘤(gastrointestinal stromal tumors,GIST)是一类胃肠道最常见的间叶源性肿瘤,由于特异的酪氨酸激酶受体c-kit或血小板转化生长因子(PDGFRA)突变而引起的.GIST病理诊断必须依据大体病理学、组织病理学、免疫组织化学检测结果以及基因检测结果综合判断,正确的术前病理诊断和危险度判定对患者进行个体化治疗有着非常重要的意义.本文系统阐述近年来关于GIST病理诊断的最新进展,以及国际国内对GIST危险度分级方案的最新共识.此外本文还总结了对GIST生物学行为评估有一定参考价值的分子生物学指标,供同道参考.     

Current clinical management of gastrointestinal stromal tumor

Gastrointestinal stromal tumors(GISTs) are the most common malignant subepithelial lesions(SELs) of the gastrointestinal tract. They originate from the interstitial cells of Cajal located within the muscle layer and are characterized by over-expression of the tyrosine kinase receptor KIT. Pathologically, diagnosis of a GIST relies on morphology and immunohistochemistry [KIT and/or discovered on gastrointestinal stromal tumor 1(DOG1) is generally positive]. The prognosis of this disease is associated with the tumor size and mitotic index. The standard treatment of a GIST without metastasis is surgical resection. A GIST with metastasis is usually only treated by tyrosine kinase inhibitors without radical cure; thus, early diagnosis is the only way to improve its prognosis. However, a GIST is usually detected as a SEL during endoscopy, and many benign and malignant conditions may manifest as SELs. Conventional endoscopic biopsy is difficult for tumors without ulceration. Most SELs have therefore been managed without a histological diagnosis. However, a favorable prognosis of a GIST is associated with early histological diagnosis and R0 resection. Endoscopic ultrasonography(EUS) and EUS-guided fine needle aspiration(EUSFNA) are critical for an accurate diagnosis of SELs. EUSFNA is safe and effective in enabling an early histological diagnosis and adequate treatment. This review outlines the current evidence for the diagnosis and management of GISTs, with an emphasis on early management of small SELs.     

Thoracoscopic enucleation for small-sized gastrointestinal stromal tumor of the esophagus: report of two cases

Gastrointestinal stromal tumors (GISTs) rarely occur in the esophagus. Surgical approaches for such tumors have not been established, since the standard wedge or segmental resection that is used for intra-abdominal GIST is not possible in the esophagus. We report two cases of small esophageal GIST in which thoracoscopic enucleation was performed. Both patients underwent the thoracoscopic surgery using four trocars. The tumor size was 43 and 32 mm in patients 1 and 2, respectively. The operating time was 240 and 238 min. The final diagnosis was as low-risk GIST in both patients. Postoperative course was uneventful and both patients have been disease-free at a follow-up of 40 and 32 months. Considering the special case of the esophagus and the very good prognosis of low-risk tumors, enucleation under the thoracoscopic technique may be feasible for small-sized esophageal GIST as a minimally invasive surgery. We also review the literature in this report.     

LONG‐TERM FOLLOW UP OF PATIENTS WITH SMALL GASTROINTESTINAL STROMAL TUMORS IN THE STOMACH USING ENDOSCOPIC ULTRASONOGRAPHY‐GUIDED FINE‐NEEDLE ASPIRATION BIOPSY

Background: Gastrointestinal stromal tumors (GIST) are one of the most common mesenchymal tumors of the gastrointestinal tract. GIST are defined by positive immunohistochemical staining for KIT or CD34 and thus are generally diagnosed after surgery. Because small GIST are rarely diagnosed before surgery, the clinical course of these small tumors is not clear. The aim of the present study was to follow changes in size and configuration of small GIST that were pathologically confirmed using endoscopic ultrasonography‐guided fine‐needle aspiration biopsy (EUS‐FNAB). Methods: Between July 1997 and December 2003, 16 tumors in 16 patients (10 men and 6 women) with an immunohistochemical diagnosis of GIST were regularly followed in our hospital. The median patient age when EUS‐FNAB was performed was 62 years (range 26–82 years) and the median follow‐up period was 4.9 years (range 0.5–9.6 years). Results: Fourteen tumors showed no remarkable changes in size and shape during follow up compared with the initial diagnosis. Two tumors enlarged: one tumor approximately doubled its diameter in 8 years and the other tumor increased from 1.8 cm at diagnosis to up to 10 cm after only 2 years. Doubling time of the latter tumor was calculated as 3.1 months. Conclusions: We conclude that EUS‐FNAB might be a good modality for final diagnosis of GIST without surgery, and that GIST without rapid growth on follow up can be endoscopically followed.     

胃肠道间质瘤的影像学研究进展

胃肠道间质瘤(gastrointestinal stromal tumors, GIST)是胃肠道最常见的非上皮性肿瘤,近年随着影像学的发展,诊断胃肠道间质瘤的报道有逐年增高的趋势.本文综述了近年来关于GIST影像诊断的研究进展.     

Clinical implications of doubling time of gastrointestinal submucosal tumors

AIM To evaluate the efficacy of doubling time(DT) of gastrointestinal submucosal tumors(GIST).METHODS From April 1987 through November 2012, a total of 323 patients were given a final histopathological diagnosis of GISTs on surgical resection or endoscopic ultrasound-guided fine-needle aspiration(EUS-FNA) in Kitasato University East Hospital or Kitasato University Hospital. We studied 53 of these patients(34 with resected tumors and 19 with unresected tumors) whose tumors could be measured on EUS on at least two successive occasions. The histopathological diagnosis was GIST in 34 patients, leiomyoma in 5, schwannoma in 3, ectopic pancreas in 1, hamartoma in 1, cyst in 1, Brunner's adenoma in 1, and spindle-cell tumor in 7. We retrospectively calculated the DT of GISTs on the basis of the time course of EUS findings to estimate the growth rate of such tumors.RESULTS The DT was 17.2 mo for GIST, as compared with 231.2 mo for leiomyoma, 104.7 mo for schwannoma, 274.9mo for ectopic pancreas, 61.2 mo for hamartoma, 49.0 mo for cyst, and 134.7 mo for Brunner's adenoma. The GISTs were divided into risk classes on the basis of tumor diameters and mitotic figures(Fletcher's classification). The classification was extremely low risk or low risk in 28 patients, intermediate risk in 3, and high risk in 3. DT of GIST according to risk was 24.0 mo for extremely low-risk plus low-risk GIST, 17.1 mo for intermediate-risk GIST, and 3.9 mo for high-risk GIST. DT of GIST was significantly shorter than that of leiomyoma plus schwannoma(P 0.05), and DT of high-risk GIST was significantly shorter than that of extremely low-risk plus low-risk GIST(P 0.05).CONCLUSION For GIST, a higher risk grade was associated with a significantly shorter DT. Small SMTs should initially be followed up within 6 mo after detection.     

Differential diagnosis of gastrointestinal leiomyoma versus gastrointestinal stromal tumor

Introduction Strategies for the diagnosis of tumors arising in the intestinal muscular wall are rapidly evolving. Immunoreactivity for CD117 (KIT) usually supports the diagnosis of gastrointestinal stromal tumor (GIST), but a small subset of GISTs lacks KIT expression. In these cases the differential diagnosis of KIT-negative GIST versus one of their morphological mimics is difficult and bears critical implications for therapeutic management.Case report Here, we report a case of a KIT-negative smooth muscle cell tumor of the colon in a 21-year-old man with the clinical appearance of GIST. Mutations of the KIT and platelet-derived growth factor receptor alpha (PDGFRA) gene could be ruled out. No chromosomal imbalances characteristic of GIST were found. However, cytogenetic analysis revealed losses at 7q, which has previously been reported in cases of uterine leiomyoma.Discussion We discuss current approaches to the differential diagnosis of true gastrointestinal smooth muscle cell tumor versus GIST.     

DOG1 is useful for diagnosis of KIT-negative gastrointestinal stromal tumor of stomach

Approximately 80%-95%of gastrointestinal stromal tumors(GISTs)show positive staining for KIT,while the other 5%-20%show negative staining.If the tumor is negative for KIT,but is positive for CD34,a histological diagnosis is possible.However,if the tumor is negative for KIT,CD34,S-100,and SMA,a definitive diagnosis is often challenging.Recently,Discovered on GIST-1(DOG1)has received considerable attention as a useful molecule for the diagnosis of GIST.DOG1,a membrane channel protein,is known to be overexpressed in GIST.Because the sensitivity and specificity of DOG1 are higher than those of KIT,positive staining for DOG1has been reported,even in KIT-negative GISTs.KITnegative GISTs most commonly arise in the stomach and are mainly characterized by epithelioid features histologically.We describe our experience with a rare case of a KIT-negative GIST of the stomach that was diagnosed by positive immunohistochemical staining for DOG1 in a patient who presented with severe anemia.Our findings suggest that immunohistochemical staining for DOG1,in addition to gene analysis,is useful for the diagnosis of KIT-negative tumors that are suspected to be GISTs.     

胃肠间质瘤研究新进展

胃肠间质瘤（GIST）是胃肠问质组织中最常见的恶性肿瘤,可发生于食管到肛门的任何部位,以胃和小肠最多见。e—kit原癌基因和血小板起源生长因子受体基因突变是GIST发生的关键因素。初步诊断主要依靠影像学,可帮助了解肿瘤发生的解剖部位、大小、与周围脏器的关系及有无转移等。确诊依靠病理学和免疫组织化学CD117蛋白过表达。GIST传统的治疗方法是外科切除,但目前主张手术联合分子靶向药物的综合治疗,对一些失去手术时机或复发转移的患者使用靶向药物可获得相对好的预后。近年来,随着分子生物学的发展,GIST的诊断和治疗迅速进步,本文针对其临床特征、免疫组织化学、鉴别诊断和治疗等几方面的最新研究进展作一综述。