CT结合内镜检查诊断胃肠道间质瘤的价值

目的:探讨CT结合内镜检查诊断胃肠道间质瘤(GIST)的价值.方法:回顾分析18例均经手术病理检验证实为GIST病人的CT及内镜检查资料.结果:(1)18例GIST的CT表现为类圆形或分叶状肿瘤,边界清楚,13例平扫及增强密度均匀,强化明显,5例瘤灶内有坏死液化区;肿瘤周围肠管不同程度受压移位或粘连.(2)15例源于胃、十二指肠及结肠的间质瘤均行内镜检查,4例瘤侧胃壁镜下所见黏膜呈外压性改变者未行咬检;11例伴有溃疡形成,溃疡处咬检获取病理组织.(3)18例均行手术后光镜观察及免疫组化检查,18例CD-117均为阳性,13例CD-34阳性,10例Vimentin阳性.结论:CT与内镜相结合检查,能提高胃、十二指肠及结肠GIST定位、定性的准确性.     

胃肠道间质瘤113例的临床诊治分析

目的:探讨胃肠道间质瘤(gastrointestinal stromal tumor, GIST)的临床表现、病理特征诊断和治疗措施.方法:对113例GIST患者的-临床资料进行回顾性分析.结果:以消化道出血就诊者58例,上腹疼痛或腹胀45例,腹部包块7例,肠梗阻3例.肿瘤位于食管2例,胃53例,小肠47例,结肠4例,直肠7例;肿瘤体积2 cm ×2 cm×2 cm～10 cm×12 cm×l5 cm.病理检查结果:良性34例(30.1%),交界性31例(27.4%),恶性48例(42.4%);表现为梭形(43例)、上皮样(32例)或多形性(38例).全部患者均行手术切除,手术切除不全(3例)、术后复发(8例)或远处转移(4例)的患者应用Gleevec辅助治疗.随访6个月～9年,13例患者死亡,31例术后复发,其中12例服用甲磺酸依马替尼(Gleevec)部分缓解,69例患者健在.结论:GIST临床表现主要为消化道慢性出血、上腹部不适等;消化内镜及钡气双重对比造影检查是胃及结直肠间质瘤的主要诊断方法,剖腹探查或腹腔镜腹腔探查是早期诊断小肠间质瘤的主要手段;Gleevec治疗不能完全切除或切除术后复发的GIST患者具有较好的临床疗效.     

胃肠道间质瘤的临床表现及诊断

目的探讨胃肠间质瘤的临床表现和诊断.方法我院自2002年1月～2004年10月收治并经病理证实的29例胃肠道间质瘤( GIST)的临床资料进行回顾性分析.结果本组男性18例,女性11例(男女之比1.6∶1,平均年龄53.6岁,50岁以上发病占62%),部位以胃最为多见.内窥镜检查阳性率80%,消化道造影74%,CT阳性率为94%.病理表现:肿瘤多为梭形细胞和上皮细胞组成.CD 34阳性(70%)、CD 117阳性(75%).结论 GIST是一种具有潜在恶性的肿瘤.常规内窥镜、消化道造影、B超等检查仍有相当病人漏诊,CT在诊断方面有一定的实用价值.GIST的确认有赖于病理组织学和免疫组化检查.CD 34和CD 117阳性在诊断上有其特殊意义.     

胃肠间质瘤35例诊治体会

为了探讨胃肠间质瘤(GIST)的诊断和治疗,回顾性分析35例GIST的临床资料及预后.病变位于胃21例,小肠7例,直肠3例,十二指肠和小肠系膜各2例.临床主要表现为腹部疼痛不适、腹部包块及消化道出血.B超、CT检查示,腹腔肿瘤18例中,胃占位病变11例,直肠占位和盆腔肿瘤各2例,肝占位或转移8例.16例内镜检查示,胃黏膜下病变11例,直肠黏膜下病变1例;7例行超声内镜检查,5例提示胃间质瘤,1例提示直肠间质瘤.术前14例初诊为胃间质瘤,仅1例病理确诊.35例均行手术切除,其中姑息性切除9例,根治性手术26例,无手术死亡.33例患者获得随访3～128个月,中位随访时间27个月.全组死亡11例(33.3%),生存时间6～59个月,中位生存时间13个月;22例生存(66.7%),生存时间3～128个月,中位生存时间28个月.4例患者术后格列卫辅助治疗,仅1例带瘤生存.初步研究结果提示,GIST临床无特征性表现,超声内镜有助诊断,只有彻底切除肿瘤有望取得好的疗效,正规使用格列卫有助提高疗效.     

胃肠道间质肿瘤伴肝转移18例临床分析

目的:总结胃肠道间质肿瘤(gastrointestinal stromal tumors,GIST)伴肝转移的诊断及治疗经验。方法:回顾性分析18例胃肠道间质肿瘤伴肝转移的临床资料。结果:胃肠道间质瘤伴肝转移18例,其中12例位于胃,2例位于十二指肠,4例位于结肠。临床表现主要为消化道出血(60%),腹部包块(25%),体检发现贫血(25%)。术前均行内窥镜、B超及CT检查,术前12例病理确诊(66.7%)。全组均行手术切除,无手术死亡和手术并发症,其中局部切除3例,12例扩大切除 肝转移灶切除 淋巴结清扫。6例患者术后服用甲磺酸伊马替尼(格列卫)辅助治疗。16例患者获得随访,1年生存率为88.9%,3年生存率为48.6%。结论:GIST伴肝转移术前确诊率低,综合分析有助于提高确诊率。手术切除为主的综合治疗是最可靠的治疗方法。     

胃肠道间质瘤67例临床分析

目的：探讨胃肠道间质瘤（GIST）的临床特点及诊治方法。方法：回顾性分析67例GIST患者的临床资料。结果：临床主要表现为腹部疼痛和腹部不适35例，腹部包块6例，消化道出血26例；病变部位胃44例，小肠13例，结肠直肠6例。66例患者行手术治疗。结论：内镜以及影像学检查对GIST病变定位有重要作用。GIST的确诊依靠病理学检查。手术切除是病理确诊和治疗的主要方法。     

胃间质瘤与非胃间质瘤的超声表现及病理危险度分级的对比研究

目的:比较胃间质瘤与非胃间质瘤的超声图像表现及病理危险度分级间的差异,评价超声检查预测胃间质瘤和非胃间质瘤危险度的临床价值。方法:回顾性分析经手术后病理证实为胃肠道间质瘤（GIST）的55例患者的超声图像表现,按肿瘤的生长部位分为胃间质瘤组和非胃间质瘤组,对比分析两组间超声图像表现及病理危险度分级的差异。结果:非胃间质瘤组的恶性危险度更高,在瘤体最大径≤5 cm、呈类圆形、内部不伴无回声、血流稀少方面,两组间危险度相比较均具有统计学差异(P＜0.05)。同时,瘤体最大径>5 cm、形态不规则、内伴无回声、血流丰富和伴有转移的GIST恶性危险度更高,具有统计学差异(P＜0.05)。结论:胃间质瘤与非胃间质瘤的恶性程度存在一定差异,非胃来源的GIST恶性程度高于胃来源的间质瘤,超声图像特征有助于评估肿瘤的危险度,为临床治疗和判断预后提供指导信息。     

胃原发胃肠道间质瘤25例临床病理分析

目的:探讨原发于胃的胃肠道间质肿瘤(GIST)的临床病理特点.方法:回顾性分析2005年～2009年胃的GIST患者临床病理资料.结果:25例GIST患者实施胃镜检查,其中20例可见糜烂溃疡、息肉样包块,3例见黏膜平滑、皱襞消失,2例未见异常;病理活检结果18例可见肿瘤组织.肿瘤危险性等级极低1例,低4例,中等8例,高12例.结论:胃GIST临床表现无特异性,胃镜检查及活检有诊断意义,术后病理学检查为唯一的确诊方法.     

10例胃间质瘤临床病理分析

近年来 ,许多学者通过免疫组化及超微结构对胃肠间质瘤 (gastriointestinalstromaltumor,GIST)进行研究。我院近两年来收治 10例胃间质瘤 ,现将其临床病理特点分析报告如下。一、临床资料本组 10例中 ,男性 5例 ,女性 5例 ,年龄 4 0～ 75岁。主要症状为上腹隐痛伴黑便 ,体征以上腹部包块为主。术前胃镜检查多数诊断为胃癌或胃平滑肌 (肉 )瘤 ,活检多为黏膜慢性炎症。术前CT诊断为腹腔肿物或胃壁内占位病变。 10例均行手术切除。其中全胃切除 3例 ,近端胃大部切除 4例 ,远端胃大部切除 2例 ,局部切除 1例。术后病理诊断为胃间质瘤平滑肌瘤…     

原发性小肠肿瘤53例临床分析

目的：探讨原发性小肠肿瘤的类型、临床特点及诊断方法。方法：回顾性分析53例原发性小肠肿瘤的临床和病理资料。结果：小肠良性肿瘤11例，其中平滑肌瘤3例，占27.3％小肠恶性肿瘤42例，其中间质细胞肉瘤17例，占40．5％：其次为腺癌15例，占35．7％。胃十二指肠镜检查18例，其中9例阳性；CT检查32例，其中25例阳性结论：应综合利用纤维胃十二指肠镜、CT、选择性动脉造影和逆行胰胆管造影（ERCP）等检查手段，以提高小肠肿瘤的诊断率。     

胃肠道间质瘤87例临床病理分析

  目的 探讨胃肠道间质瘤（GISTs）的临床病理特点。方法 应用常规病理及免疫组化观察87例胃肠道间质瘤，并复习相关文献。结果 本组GISTs均为成年人，年龄28 ~ 73岁，平均53岁。发生于胃56例，小肠29例，结肠2例。镜下肿瘤由梭形细胞和上皮样细胞以不同的比例构成。瘤细胞vimentin均阳性，CD117，CD34多为弥漫强阳性，SMA、S-100在肿瘤向平滑肌和神经方向分化时阳性。结论 GISTs好发于中老年人，肿瘤由梭形细胞和上皮样细胞构成，免疫组化特征为CD117，CD34阳性。     

胃肠间质瘤47例临床分析

目的总结胃肠间质瘤的临床病理和免疫组织化学（免疫组化）特征，探讨其诊断和治疗，并评价预后。方法对2002年1月-2007年3月5年期间收治的47例胃肠间质瘤病人的临床资料进行回顾性分析，并完成随访。结果47例病人中CD117阳性40例（85．1％），CD34阳性39例（83．0％），S-100阳性10例（21．3％），平滑肌肌动蛋白SMA阳性3例（6．4％），结蛋白desmin全部阴性。结论CT结合内镜检查可提高诊断率，最终确诊主要依靠病理及免疫组化，CD117是诊断GIST的重要标记物，手术完整切除肿瘤效果满意．恶性GIST宜行较大范围的切除术，必要时须行联合脏器切除。     

Association métachrone d’un adénocarcinome rectal et d’une GIST: à propos d’un cas

Background

Gastointestinal stromal tumors (GISTs) are rare neoplasms. They represent less than 1% of all gastrointestinal tumors. Little is known about their association with other tumors of different histogenesis. Coexistence of GISTs, especially with metachronous or synchronous colorectal cancer, is a phenomenon with increasing number of relative reports in the last five years.

Case report

We report a 64-year-old man, with no history of disease, presenting with colorectal adenocarcinoma, treated with concomitant chemoradiotherapy, anterior resection of rectum, and adjuvant chemotherapy. After 9 months, he developed a locally advanced recurrent tumor. The patient received a second-line chemotherapy. Radiology estimate after six cycles discovered incidentally an antral gastric mass, which measured 5/4 cm in tomodensitometry imaging. Histological examination of mass’s biopsy revealed a GIST, and immunohistochemistry proved positive CD117. The patient continued to receive chemotherapy because of both malignant progress of colorectal adenocarcinoma and poor prognosis. Surgery of GISTs will be considered if complete or partial responses to chemotherapy of colorectal cancer are achieved.

Discussion

The coexistence of GISTs and other primary tumors is usually discovered incidentally during GI surgery for carcinoma, or during work-up for radiological or endoscopy exploration. The known genetic pathways of tumorigenesis are different for the two neoplasms: c-kit appears to be occasionally overexpressed in colorectal cancer, and it is not clear if the protein is indeed a key player in the carcinogenetic process, as it is in GISTs. Other studies are necessary to assess if tyrosine-kinase inhibitors could be used in a multimodality regimen in colorectal cancer.     

胃肠间质瘤的影像学特征与病理学的相关性

目的探讨胃肠间质瘤（GISTs）的影像学和病理组织学特征。方法回顾性分析26例胃肠间质瘤的影像学资料,并与病理学做对照。结果26例GISTs中,位于小肠10例,胃8例,大肠6例,肠系膜和网膜各1例。其影像学特点和病理学表现如下：（1）肿块多为外生性生长（19例, 73．1％）,边缘光整,压迫邻近结构,肿瘤直径为5．1-23．5 cm,平均直径（11．6±5．9）cm;（2）肿块内部密度或信号不均匀,瘤内见坏死21例（80．8％）,出血15例（57．7％）,钙化3例（11．5％）;（3）在增强后的CT和MRI图像上,不均匀强化者21例（80．8％）,表现为肿块周边及内部斑片样强化,并可见条状强化的血管影12例;均匀强化5例（19．2％）;（4）远处转移见于肝（7例）和腹膜（4例）,但不伴淋巴结转移;（5）病理学：梭形细胞型18例（69．2％）,上皮细胞型6例（23．1％）,混合型2例（7．7％）;免疫组化染色：26例患者CD117全部阳性,22例患者CD34阳性。结论胃肠间质瘤典型特征为外生性生长,体积较大,瘤内可见条状血管影、出血和坏死;转移多见于肝和腹膜,无淋巴结转移。组织学分型以梭形细胞型最多见,其次为上皮细胞型。CT和MRI是诊断GISTs的理想方法。     

Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa

BACKGROUND: Gain-of-function mutations of the c-kit protooncogene, mainly clustered in the juxtamembrane domain, have been reported in a significant fraction of gastrointestinal (GI) stromal tumors (GISTs) that represent the most common mesenchymal tumor of the GI tract. Two families also have been described with a GIST predisposition syndrome with a germline c-kit mutation affecting either the juxtamembrane domain or the tyrosine kinase domain. Here, the authors report on a family in which the dominantly inherited trait of hyperpigmented spots was inherited from an individual who developed multiple GISTs with diffuse hyperplasia of the myenteric plexus by his son, who was affected with urticaria pigmentosa. METHODS: Screening for the c-kit mutation was performed by means of polymerase chain reaction-based denaturing gradient gel electrophoresis/constant denaturing gel electrophoresis followed by direct sequencing of abnormal conformers. Expression of KIT and CD34 was determined by immunohistochemistry. RESULTS: In peripheral blood DNA samples, both affected family members showed a previously undescribed c-kit mutation in the juxtamembrane domain, resulting in the substitution of alanine for valine(559). Mutation and polymorphic marker analyses on DNA samples from three GISTs and two skin biopsy specimens evidenced the same mutation in the heterozygous condition. Immunohistochemical examination showed coexpression of CD117 (c-kit) and CD34 in all independent GISTs and CD117 positivity in mast cells from the skin lesions. CONCLUSIONS: Comparative analysis of clinical presentation and mutation mapping in the families described to date point to the peculiar association of mast cells, melanocytic dysfunction, and GIST predisposition in carriers of c-kit mutations within the juxtamembrane domain.     

35例胃肠道间质瘤的临床病理及免疫组织化学探讨

目的:探讨胃肠道间质瘤(GISTs)的病理组织形态和免疫组织化学特点及其在良性、潜在恶性、恶性临床分布特点方法:选用35例临床资料完整、病理诊断准确的病例(均经免疫组织化学测定CD117、CD34、SMA、S-100、NSE)结果:35例GISTs恶性(包括潜在恶性)达85.0%以上;组织形态以梭形细胞为主23例(65.7%),上皮样细胞7例(20.0%),混合型5例(14.2%);免疫组织化学阳性表达率CD117 74.3%(26/35例)、CD34 68.6%(24/35例)、NSE65.7%(23/35例)、S-100 31.4%(11/35例)、SMA 48.6%、(17/35例);向神经分化13例,向平滑肌分化5例,双向分化12例,未分化5例.结果:GISTs是消化道最常见的间叶性肿瘤,CD117及CD34等免疫标记物配合使用,可起互补作用并对其作出正确诊断.     

肠道胃肠间质瘤的临床病理改变

目的:了解肠道胃肠间质瘤(gastrintestinal stromal tumors GIST)的特殊临床病理改变。方法:收集31例肠道胃肠间质瘤的临床病理资料,每例常规光镜切片观察,作免疫组化CD34、CD117、SMA、S100、CKp标记。结果:肠道胃肠间质瘤临床症状以腹痛、肿块、便血为主。分布在十二指肠、小肠和直肠。以高危险度胃肠间质瘤为主。免疫组化标记:肿瘤细胞以CD34和CD117阳性为主。结论:肠道胃肠间质瘤临床症状与肠恶性肿瘤相似,诊断依据组织学改变和免疫组化标记,并以此判断肿瘤的危险度。     

Expression profiling of GIST: CD133 is associated with KIT exon 11 mutations, gastric location and poor prognosis

In gastrointestinal stromal tumors (GISTs), KIT exon 11 deletions are associated with poor prognosis. The aim of this study was to determine the gene expression profiles of GISTs carrying KIT exon 11 deletions and to identify genes associated with poor prognosis. Expression profiling was performed on nine tumors with KIT exon 11 deletions and 7 without KIT exon 11 mutations using oligonucleotide microarrays. In addition, gene expression profiles for 35 GISTs were analyzed by meta-analysis. Expression of CD133 (prominin-1) protein was examined by tissue microarray (TMA) analysis of 204 GISTs from a population-based study in western Sweden. Survival analysis was performed on patients subjected to R0 resection (n=180) using the Cox proportional hazards model. Gene expression profiling, meta-analysis, and qPCR showed up regulation of CD133 in GISTs carrying KIT exon 11 deletions. Immunohistochemical analysis on TMA confirmed CD133 expression in 28% of all tumors. CD133 positivity was more frequent in gastric GISTs (48%) than in small intestinal GISTs (4%). CD133 positivity was also more frequent in GISTs with KIT exon 11 mutations (41%) than in tumors with mutations in KIT exon 9, platelet-derived growth factor receptor α (PDGFRA), or wild-type tumors (0-17%). Univariate survival analysis showed a significant correlation between the presence of CD133 protein and shorter overall survival (hazard ratio=2.23, p=0.027). Multivariate analysis showed that CD133 provided additional information on patient survival compared to age, sex, National Institutes of Health (NIH) risk group and mutational status. CD133 is expressed in a subset of predominantly gastric GISTs with KIT exon 11 mutations and poor prognosis.     

CD117和CD34在胃肠道间质瘤中的表达及其临床意义

目的：探讨CD117和CD34在胃肠道间质瘤（GISTs）中的表达及其临床意义。方法：免疫组织化学法检测CD117和CD34在46例GISTs患者手术切除肿瘤组织和24例真性平滑肌瘤（对照组）中的表达,并观察GISTs的病理学特征。结果：GISTs患者手术切除肿瘤组织在光镜下主要由数量不等的梭形和（或）上皮样细胞组成,梭形细胞排列成束状、编织状或旋涡状,上皮样细胞多呈弥漫片状、束状或巢状排列,两种细胞可按不同比例混合性或单一性组成肿瘤的实体。CISTs组织中CD117、CD34阳性表达率分别为100．0％、84．8％,对照组真性平滑肌瘤组织中CD117和CD34均：无表达。GISTs主要发生在胃（52,2％,24／46）和小肠（26．1％,12／46）。结论：CD117和CD34是诊断GISTs比较特异性的抗体,具有非常重要的诊断价值。     

两镜联合治疗30例胃间质瘤的临床体会

目的:探讨胃镜联合腹腔镜手术切除胃间质瘤的安全性、可靠性。方法:回顾性总结天津市人民医院消化外科自2004年7 月至2009年3 月共30例胃间质瘤患者采用胃镜联合腹腔镜手术切除的临床病理资料,并进行随访。其中男18例,女12例。结果:30例患者术前经胃镜、超声胃镜、上消化道钡餐造影及腹部CT、腹部核磁共振检查诊断胃间质瘤。瘤体位于胃后壁11例,胃前壁19例;胃底部10例,胃体部16例（大弯侧11例,小弯侧5 例）,小弯近贲门1 例,胃窦体交界部3 例。30例手术均获成功,无手术死亡及中转开腹,手术时间40~120min,平均时间70min;术中出血量20~80mL,术后测量肿瘤直径0.7~5.0cm,平均直径1.5cm。术后免疫组化结果为:CD117 阳性28例（93.3%）,CD34阳性26例（86.7%）。 术后病理判定肿瘤生物学风险行为结果,极低度风险18例,低度风险9 例,中度风险3 例,高度风险0 例。术后48h 内下床活动、恢复胃肠功能,术后2～3 天进流质饮食,无术后并发症,术后住院4～7 天。术后随访1～36个月,经胃镜复诊,未发现复发及转移。结论:胃间质瘤临床表现缺乏特异性,诊断主要依靠上消化道造影、电子胃镜、超声内镜及CT检查。手术切除是胃间质瘤唯一有效的治疗方法,胃镜联合腹腔镜手术治疗安全、可靠,并发症少,并具有定位准确、创伤小,术后恢复快,疗效确切等优点,值得被广泛推广应用。