胃肠道间质瘤17例临床诊治分析

目的：探讨胃肠道间质瘤（ GIST ）的临床特点、治疗方法,以提高诊断和治疗效果。方法：回顾分析我院2007年1月～2012年10月17例胃肠道间质瘤患者的临床诊断、治疗、病理及随访。结果：GIST临床表现缺少特异性。17例GIST中,9例（52．9％）发生于胃,6例（35．3％）发生于小肠（其中1例伴肝脏转移）,1例（5．9％）发生于直肠,1例（5．9％）发生于左半结肠系膜根部。 CT检查呈现不规则软组织肿块,大部分边界完整。 GIST免疫组织化学表达CD117阳性者16例（94．1％）,CD34阳性者15例（88．2％）。2例胃间质瘤患者于术后1年死于远处转移,其余患者尚未发现明显远处转移及复发征象。结论：对于疑似GIST患者,可采用胃镜、超声胃镜、B超、CT等多种手段以明确诊断。对于确诊患者,应根据肿瘤的位置、大小等采用适合手术治疗,以降低其复发率和转移率,提高患者生存期。     

胃肠道间质瘤与胃肠道自主神经瘤

以往，临床、影像及病理工作者对消化道平滑肌肿瘤的存在深信不疑，并且认为平滑肌肿瘤是消化道最常见的间叶源性肿瘤。当前，人们已将消化道间叶源性肿瘤(gastroin-testinal mesenchymal tumor，GIMT)以平滑肌肿瘤为主的观点逐渐转变到以胃肠道间质瘤(gastrointestinal stromal tumor，GIST)为主的观点上来，大量文献报道了当前认识的GIST临床病理、免疫表型及分子生物学特点.     

胃肠道恶性间质瘤的临床病理分析

目的 探讨胃肠道恶性间质瘤（ＧＩＳＴ）的临床病理特征。方法 分析了６例ＧＩＳＴ的临床及病理特征。结果 ６例恶性ＧＩＳＴ均无消化道梗阻。临床表现为特异性,广泛分布于胃（６０％）,小肠（３０％）和其它部位（１０％）,１０％～３０％ＧＩＳＴ是恶性的,表现为腹腔内的扩散或肝转移;常规病理学检查,ＧＩＳＴ与平滑肌瘤／肉瘤等其它类型的梭形细胞肿瘤不易区别,确诊需要免疫组化或／和电镜检查;免疫组化ＣＤ３４（＋）,Ｖｉｍｅｎｔｉ（＋）,Ｄｅｓｍｉｎ（－）,Ａｃｔｉｎ（－）,Ｓ－１００（－）;恶性ＧＩＳＴ应用根治性手术,影响预后的因素较多。结论 ＧＩＳＴ具有独特免疫组化表型,是有别于平滑肌肿瘤的一类成分复杂的间叶性肿瘤。     

对胃肠道间质瘤的再认识

胃肠道间质瘤 (gastrointestinalstromaltumor,GIST)是消化道最常见的间叶源性肿瘤 ,长期以来一直被诊断为消化道平滑肌 (肉 )瘤或 (恶性)神经鞘膜瘤。 1 983年 ,Mazur和Clark运用电镜和免疫组织化学重新评估胃间叶源性肿瘤的组织发生 ,发现除个别病例具有明确的平滑肌和神经鞘膜免疫表型和超微结构特征外 ,大部分肿瘤无明确肌性或神经分化特征 ,类似未分化的幼稚间充质细胞 ,从而提出GIST的概念 ,作为在当时情况下难以明确这类肿瘤分化方向的临时替代名称。此后 ,各国学者对GIST进行了深入研究 ,但直至近年发现该肿瘤存在c kit基因的…     

胃肠道间质瘤的误诊因素分析及鉴别

目的:分析胃肠道间质瘤（GIST）的影像误诊因素及鉴别要点。 方法:搜集术前误诊为GIST患者11例,GIST患者术前未正确诊断2例作为此次研究的对象,对所有患者的影像资料进行回顾分析。13例患者均有手术病理,进行MSCT扫描,观察CT影像特征,分析误诊或未正确诊断GIST的影像学因素及鉴别价值。 结果:13例误诊患者中,2例为腹膜后神经鞘瘤、2例为低分化腺癌、2例为异位胰腺、1例为类癌、1例为平滑肌瘤、1例为未分化肉瘤、2例为转移性癌、另外2例小肠间质瘤术前未正确诊断。误诊与肿瘤发生部位、大小、血供来源、生长趋势、观察方法等因素有关。 结论:GIST有一定的影像特点,降低胃肠道间质瘤的误诊,三维重建-肿块准确定位是重中之重,其次应仔细观察肿块细微关键征象,注意肿块血供来源及生长趋势也是鉴别要点。     

胃肠道间质瘤64例免疫标记物应用分析

目的 探讨胃肠道间质瘤(gastrointestinal stromal tumor,GIST)的免疫组化标记物的表达特征,为其诊断及鉴别诊断提供依据.方法 收集85例确诊的胃肠道及腹、盆腔间叶源性肿瘤标本,其中GIST 64例.免疫组化法检测CD117、CD34、DOG1、NSE、S-100、SMA和vimentin的表达.结果 GIST组中CD117、CD34、DOG1、NSE阳性率分别为89.1%、76.6%、96.9%及87.5%;非GIST组中的阳性率分别为4.8%、33.3%、28.6%和50.0%.CD117阴性的GIST组中CD34、NSE、DOG1阳性率分别为28.6%、71.4%和85.7%.结论 GIST中DOG1表达的敏感性高于CD117,在CD117阴性的病例中DOG1优于其他标记物.DOG1与CD117及NSE等联合应用于免疫组化检测足以明确绝大多数GIST的诊断.     

胃肠道间质瘤的研究进展

胃肠道间质瘤是消化道内的一种间叶性肿瘤,近年来才逐渐被大家所认识。免疫组织化学研究发现,绝大多数胃肠道间质瘤特征性表达CD117。随着分子生物学技术的发展,发现肿瘤细胞的c-k it基因或血小板衍生生长因子受体α基因存在突变。外科手术是惟一有治愈可能的治疗方法,但药物伊马替尼可以治疗有些不能手术的肿瘤或已经发生转移的肿瘤。但此药物与多种因素有关,包括肿瘤细胞的基因突变类型。     

胃肠道间质瘤合并消化道癌20例临床病理分析

目的 探讨20例胃肠道间质瘤(gastrointestinal stromal tumor,GIST)合并消化道癌的临床病理特征.方法 回顾性研究165例GIST,对其中20例合并发生消化道癌的病例进行临床病理特征分析并行免疫组化CD117、DOG1等染色.结果 GIST合并发生消化道癌的病例占所有收集GIST病例的12.1%.20例患者中16例男性、4例女性(P＜0.05),年龄44～79岁,平均64.3岁(P＜0.05).19例GIST发生于胃(95.0%),1例发生于食管(5.0%),其中3例为消化道癌根治术中探查发现,其余均为术后病检偶然发现,直径0.4～4.5 cm,平均1.0 cm(P＜0.01).肿瘤细胞均为梭形细胞型,生物学危险度分级为极低危险度18例(90.0%)和低危险度2例(10.0%),免疫标记肿瘤细胞CD117阳性16例(80.0%),DOG1阳性19例(95.0%),其中DOG1阳性、CD117阴性4例(20.0%),CD117阳性、DOG1阴性1例(5.0%).合并发生的消化道癌中胃腺癌10例(50.0%),食管鳞癌9例(45.0%),1例为直肠腺癌(5.0%),肿瘤TNM分期0期1例(5.0%),Ⅰ期3例(15.0%),Ⅱ期7例(35.0%),Ⅲ期9例(45.0%).结论 GIST合并消化道癌并不少见.本病好发于老年男性,其中GIST多发生于胃且生物学危险度低,合并的消化道癌多为胃癌和食管癌.组织学主要为梭形细胞型,危险度分级较低.临床和病理均应重视本病的诊断,特别是在术中探查及术后随访过程中应注意与消化道癌的转移性癌结节鉴别.DOG1能帮助鉴别诊断其他胃肠道间叶源性肿瘤.     

胃肠道间质瘤临床病理研究进展

传统上,胃肠道原发性间叶源性梭形细胞肿瘤几乎都归为平滑肌肿瘤,包括平滑肌瘤与平滑肌肉瘤及它们的各种亚型,但新近研究表明,大多数胃肠道间叶源性肿瘤既不同于典型的平滑肌瘤,也不同于雪旺瘤,而是一组具有不同特征的肿瘤,称为胃肠道间质瘤(ｇａｓｔｒｏｉｎｔｅｓｔｉｎａｌｓｔｒｏｍａｌｔｕｍｏｕｒｓ,ＧＩＳＴｓ)。研究发现较特异和最具实用意义的诊断标准是免疫组织化学检测ｃｋｉｔ基因产物(ＣＤ117)和ＣＤ34的表达〔1,2〕。由于ＧＩＳＴ涵盖了绝大部分胃肠道间叶源性肿瘤,而真正的胃肠道平滑肌瘤及雪旺瘤很少见,因此,作者综合近年…     

胃肠间质瘤28例诊治分析

目的 探讨胃肠间质瘤(GIST)的临床诊断、治疗和预后.方法 回顾性分析南开医院2002年1月至2007年9月收治的胃肠间质瘤28例临床资料及其肿瘤组织病理切片免疫组化结果 .结果 肿瘤部位以胃肠为主,本组均行手术治疗.术后病理诊断10例良性,18例为潜在恶性和恶性;免疫组化CD34阳性19例(67.9%),CD117阳性28例(100%),抗平滑肌抗体(SMA)阳性13例(46.4%),而S-100阳性1例(3.6%).胃间质瘤中CD34表达率在良性肿瘤与恶性肿瘤之间以及交界性肿瘤与恶性肿瘤之间表达差异有显著性意义(P＜0.05).术后随访:良性GIST 10例,平均随访时间25.6个月,8例无局部复发、转移;2例术后1年内复发再手术;恶性GIST 18例,平均随访18.5个月,9例局部复发再手术,5例肝肺转移,4例死亡.结论 CDM可能在胃间质瘤的发生、发展过程中发挥了重要作用.手术完全切除对于GIST是主要的治疗方法 .肿瘤大小及核分裂像数目是GIST重要的预后因素.     

胃肠道间质瘤的螺旋CT诊断价值

目的：探讨螺旋CT平扫和增强扫描对胃肠道间质瘤（GISTs）的诊断价值。方法：回顾性分析33例经手术、病理及免疫组化证实的GISTs患者螺旋CT表现。结果：平扫33例中，瘤体呈均匀等密度10例，肿块周边呈等密度中间略低或不均匀低密度23例。增强扫描16例中，病灶区呈中度或明显均匀强化9例，不均匀强化并可见囊状改变4例，病灶中央大片状坏死伴周边部明显强化3例。33例中良性9例，肿块直径多小于5cm，且呈圆形、类圆形，规则，边界尚清楚；恶性24例，直径多大于5cm，多数向腔外生长，边界不清楚，5例肿块中有坏死出血，4例发现转移灶。结论：螺旋CT检查对GISTs诊断虽无特异性，但可以准确定位，发现转移灶，显著提高GISTs的检出率，弥补常规胃肠道造影和内窥镜检查的不足，对GISTs术前定位和鉴别诊断均有重要价值。     

胃肠道恶性间质瘤的临床病理分析

目的探讨胃肠道恶性间质瘤(GIST)的临床病理特征. 方法分析了6例GIST的临床及病理特征.结果 6例恶性GIST均无消化道梗阻.临床表现无特异性,广泛分布于胃(60%), 小肠(30%)和其它部位(10%),10%～30%GIST是恶性的,表现为腹腔内的扩散或肝转移; 常规病理学检查,GIST与平滑肌瘤/肉瘤等其它类型的梭形细胞肿瘤不易区别,确诊需要免疫组化或/和电镜检查;免疫组化CD34(+),Vimenti(+),Desmin(-),Actin (-) , S-100(-);恶性GIST应行根治性手术,影响预后的因素较多.结论 GIST具有独特免疫组化表型,是有别于平滑肌肿瘤的一类成分复杂的间叶性肿瘤.     

Comparative Ultrastructural Analysis and KIT/PDGFRA Genotype in 125 Gastrointestinal Stromal Tumors

GISTs are the most common mesenchymal neoplasms of the digestive tract and are thought to originate from or differentiate toward the interstitial cell of Cajal lineage. Almost all GISTs express KIT protein and the majority show activating mutations in either KIT or PDGFRA proto-oncogenes. Ultrastructurally, these tumors have been shown to have either a smooth muscle, neuronal, dual, or null phenotype. The objective of this study was to investigate the relationship between ultrastructural features and genotype in a large series of 125 histologically confirmed and CD117 positive GISTs. PCR analysis for the presence of KIT exon 9, 11, 13, and 17 and PDGFRA exon 12 and 18 mutations was performed. There were 62 (50%) tumors located in the stomach and 45 (36%) in the small bowel. Overall, KIT mutations were detected in 93 (75%) patients: 86 (69%) in exon 11, and 7 (6%) in exon 9. A PDGFRA mutation was detected in 7 (6%) cases and 25 (19%) cases had no mutation. Ultrastructurally, skeinoid fibers were seen in 55 (44%) cases and were more common in small bowel than stomach GISTs, and occurred in only in 1 of 16 patients with an ITD (KIT) exon 11 or PDGFRA mutation. Focal actin microfilaments were identified in 82 (65%) cases and did not correlate with location or mutation type. Rare neurosecretory-type granules (NS-G) were seen in 34 (27%) of cases, but were seen in most of the cells in only 5 (4%) cases. GISTs showing both NS-G and microtubules were associated with KIT exon 11 genotype and spindle cell morphology. PDGFRA mutated cases were associated with gastric location, predominantly epithelioid morphology and lacked NS-G.     

Molecular Insights into the Histogenesis and Pathogenesis of Gastrointestinal Stromal Tumors

Gastrointestinal stromal tumors (GISTs) have long been problematic in terms of classification and determination of prognosis. Recent studies have suggested that GISTs differentiate toward a phenotype resembling the interstitial cells of Cajal. This has led to the important discovery that activating mutations in the KIT receptor tyrosine kinase play an important role in the pathogenesis of GISTs. These findings have helped clarify the distinction between GISTs and other mesenchymal neoplasms of the gastrointestinal tract and may translate into an improved ability to predict biologic behavior, as well as suggesting possible avenues for rational drug design for the treatment of GISTs. Int J Surg Pathol 8(1):5-10, 2000     

Subclassification of Gastrointestinal Stromal Tumors Based on Evaluation by Electron Microscopy and Immunohistochemistry

Fifty-six gastrointestinal stromal tumors (GIST) were subclassified by ultrastructural examination and by immunophenotypic analysis using a panel of 13 antibodies. Eighty percent of the tumors originated in the stomach and small intestines. The neoplasms were classified as follows: 42.9% smooth muscle tumors (4 leiomyomas, 9 spindle cell and 8 epithelioid leiomyosarcomas, and 3 mixed spindle cell and epithelioid leiomyosarcomas); 37.5% gastrointestinal autonomic nerve tumors (GANT), 47.6% of which arose in the small intestines; 8.9% mixed leiomyosarcoma/neurogenic tumors; and 10.7% undifferentiated GIST, not otherwise specified. The muscle common actin antibody HHF-35, variably reactive with tumor cells composing 23 of 24 smooth muscle tumors, was found to be the most sensitive marker of leiomyocyte differentiation. One immunophenotypically questionable spindle cell leiomyosarcoma was diagnosed by electron microscopy. Since neuron specific enolase positive cells were found in 1/3 of the leiomyosarcoma cases, the ultrastructural demonstration of synapse-like structures and neurosecretory granules was required for diagnosing GANTs. The immunophenotype of the ultra-structurally undifferentiated GIST was vimentin and CD34 +. Variable numbers of ultrastructurally undifferentiated cells also were found in all of the tumors except 2 leiomyomas. CD34 was also expressed in smooth muscle (54%) and GAN (62%) tumors. Despite their similar light microscopic appearance, GIST are phenotypically heterogeneous, requiring both ultrastructural and immunohistochemical studies for accurate characterization.     

多项肿瘤标志物联合检测在胃肠道肿瘤诊断中的价值

目的探讨血清癌胚抗原(carcino-embryonic antigen,CEA)、CA19-9、CA72-4、胃蛋白酶原(pepsinogen,PG)联合检测在胃肠道肿瘤诊断中的价值。方法以2015年6月至2018年12月在中山大学附属第一医院东院收治的54例胃癌、110例结直肠癌住院患者为研究对象,所有患者均经过影像、胃镜、肠镜或组织病理学确诊,以同期健康体检非肿瘤人群53例作为健康对照组,同期收治的281例非胃癌、结直肠癌的消化道肿瘤(包括肝癌、食道癌、胆管癌)患者作为疾病对照组。采用直接化学发光法检测血清CEA、CA19-9、PG水平,并计算PGⅠ/PGⅡ比值(PGR);采用电化学发光法检测血清CA72-4水平。使用SPSS 25.0进行数据统计处理,结果以P<0.05为差异有统计学意义。结果(1)在胃癌、结直肠癌组中,CEA、CA19-9、CA72-4的测定值明显高于健康对照组;CEA、CA72-4的测定值明显高于疾病对照组;PGⅠ在胃癌、结直肠癌中的测定值明显低于健康对照组;(2)在胃癌组中,PGR的测定值与阳性率与两个对照组比较均有明显差异,PGⅡ的测定值则与两个对照组比较差异均无统计学意义;在结直肠癌组中,PGⅠ、PGⅡ的测定值与健康对照组比较差异有统计学意义,PGR的测定值与阳性率与两个对照组比较差异均无统计学意义。(3)血清肿瘤标志物单项检测对胃肠道肿瘤检测灵敏度不高,但PGR对于胃癌诊断特异性达95%,可作为阴性排除的依据。(4)肿瘤标志物联合检测对胃癌、结直肠癌检测的灵敏度均明显增高,特异性有所下降。其中以四项肿瘤标志物联合检测对胃肠道肿瘤诊断效能较好,ROC曲线下面积均达0.8。结论CEA、CA19-9、CA72-4、PG是诊断胃癌、结直肠癌的可靠指标;CEA、CA19-9、CA72-4、PG联合检测对胃肠道肿瘤的早期辅助诊断有意义,且能明显提高检出率。     

Differential Diagnosis and Molecular Stratification of Gastrointestinal Stromal Tumors on CT Images Using a Radiomics Approach

Treatment planning of gastrointestinal stromal tumors (GISTs) includes distinguishing GISTs from other intra-abdominal tumors and GISTs’ molecular analysis. The aim of this study was to evaluate radiomics for distinguishing GISTs from other intra-abdominal tumors, and in GISTs, predict the c-KIT, PDGFRA, BRAF mutational status, and mitotic index (MI). Patients diagnosed at the Erasmus MC between 2004 and 2017, with GIST or non-GIST intra-abdominal tumors and a contrast-enhanced venous-phase CT, were retrospectively included. Tumors were segmented, from which 564 image features were extracted. Prediction models were constructed using a combination of machine learning approaches. The evaluation was performed in a 100?×?random-split cross-validation. Model performance was compared to that of three radiologists. One hundred twenty-five GISTs and 122 non-GISTs were included. The GIST vs. non-GIST radiomics model had a mean area under the curve (AUC) of 0.77. Three radiologists had an AUC of 0.69, 0.76, and 0.84, respectively. The radiomics model had an AUC of 0.52 for c-KIT, 0.56 for c-KIT exon 11, and 0.52 for the MI. The numbers of PDGFRA, BRAF, and other c-KIT mutations were too low for analysis. Our radiomics model was able to distinguish GISTs from non-GISTs with a performance similar to three radiologists, but less observer dependent. Therefore, it may aid in the early diagnosis of GIST, facilitating rapid referral to specialized treatment centers. As the model was not able to predict any genetic or molecular features, it cannot aid in treatment planning yet.