SDHA表达缺失:用来识别SDH-缺失性GISTs中SDHA突变

琥珀酸脱氢酶缺失性胃肠道间质肿瘤（SDH-缺失性GISTs）是一种由琥珀酸脱氢酶B（SDHB）免疫组化染色阴性而定义的独特GIST种类，SDH缺失性GISTs显示特征性的临床和病理特征，包括缺少KIT和PDGFRA突变，唯独胃部发生，常见淋巴结转移，独特的上皮样细胞形态常伴丛状或多结节型结构，有多灶性或异时性疾病倾向，常显示伊马替尼原发耐药及胰岛素样GFR1过表达，病变大小和核分裂比率不能预见预后，惰性转移行为。

Gastrointestinal Stromal Tumors (GISTs), Surgical Management and Clinical Outcome

Introduction: This study investigated the incidence, surgical management and outcome of Gastrointestinal Stromal Tumors (GIST) in Upper Egypt. Methods: A retrospective review of all GIST patients admitted a South Egypt Cancer Institute between Jan. 2010 and Dec. 2015 was conducted. Patients’ demographics, clinical presentation, tumor characteristics, radiological, pathological and immunohistochemical findings, surgical procedures, recurrence and mortality were recorded. Results: A total of 36 GIST patients were identified, stomach was the most common site (27.8%) followed by the small intestine (19.4%) and the large intestine (16.7%). The mean age at time of diagnosis as 52.8 ± 14.4 (ranged from 17 to 76 years). Of these 36 cases, 20 (55.6%) cases were males and 16 (44.4%) cases were females with a ratio of 1.2:1. About 22 cases (61.1%) presented with primary tumors, eight cases (22.2%) had primary tumors and metastases, three cases (8.35) presented with recurrent mass, whereas one case (2.2%) presented either with recurrent mass and metastases or metastases only. The majority of cases (22) had tumorsize >5 cm. Patients were stratified as high, intermediate, low and very low risk (50.6%, 30.6%, 11.1% and 2.8%, respectively). Almost all the cases were surgically managed and 75% were completely resectable. During follow up (average 26.5 months), 22 patients showed complete recovery, 7 had recurrent or metastatic disease and 2 died due to liver metastasis. Conclusion: The incidence of GIST in Upper Egypt is apparently low. Surgical resection is the preferred choice of treatment. The demographic data of GIST patients in South Egypt Cancer institute were similar to those published in the literature. Other prospective studies are required to assess the prognosis and the effect of treatment.

Management Colorectal Gastrointestinal Stromal Tumors (Gists) in Surabaya

Introduction: Colorectal gastrointestinal stromal tumors (GISTs) mesenchymal tumor is very uncommon. GISTs effect mostly on the stomach and small intestine and rarely occur in the colon, rectum and esophagus, that originating from precursors of the interstitial cells that originate of Cajal. The symptoms of gastrointestinal stromal tumor depend on the site and size of the tumor, and may include abdominal pain, gastrointestinal bleeding or signs of obstruction;small tumors may, however, be asymptomatic. Some of the patients with gastrointestinal stromal tumor have bloody stools, obstruction and abdominal pain as the commonest manifestation. Immunocytochemical staining for CD117 is helpful in confirming the diagnosis. Case presentation: We report 3 new cases of GISTs: two occurred at the rectal and the other at descending Colon. Two cases are over 50 years of age and, and all cases the chief complain of bowel obstruction, abdominal pain in two cases, and one case with anemia and urine retention. All the patients were operated and were permormed pathology examinatiom. All case ware positive result for immunocytochemical staining CD117. All cases we had presented had size more than 5 cm are considered as unfavorable prognostic factors to Fletcher criteria, all patients scheduled for chemotherapy with Glivec but just one patient continued to used Glivec. Post surgery follows up one patient post milles with urinary incontinence complaints found and that patients are trained to CIC (intermittent catheterization). Conclusion: Colorectal gastrointestinal stromal tumors are very rare and can present as mass abdomen. Resection and chemotherapy are the treatment of choice.

Volvulus of Small Bowel Caused by GISTs: Case Report and Literature Review

Introduction: Gastrointestinal stromal tumors (GISTs) originating from the interstitial cells of Cajal and GISTs are the most frequent mesenchymal tumors in the gastrointestinal tract (20% to 30% occur in the small intestine). Most small-intestinal neoplasms are asymptomatic. The most common mode of presentation is partial small bowel obstruction, with associated symptoms of colicky abdominal pain, abdominal distention, nausea, and vomiting. Obstruction can be caused by luminal narrowing by the tumor itself or intussusception. Case Presentation: We presented an 85-year-old lady presented with acute intestinal obstruction and CT abdomen with contrast revealed, a large well defined solid mass lesion, enhanced in the arterial phase and inseparable from the jejunal loops and it measures 09 × 08 × 07 cm, likely GISTs with secondary volvulus of the small bowel. Emergency laparotomy with complete resection of the tumor and end-to-end anastomosis of jejunum was done. Discussion: Small-intestinal GISTs should be treated with segmental intestinal resection. If the diagnosis is known prior to resection, wide lymphadenectomy can be avoided as GISTs are rarely associated with lymph node metastases. GISTs are resistant to conventional chemotherapy agents. Imatinib (Gleevec) is a tyrosine kinase inhibitor with potent activity against the tyrosine kinase KIT and is used in those with metastatic disease and as an adjuvant chemotherapeutic agent.

十二指肠间质瘤预后危险因素分析及不同手术治疗方式的远期预后比较

目的探讨影响十二指肠间质瘤(duodenal GIST)预后的相关因素及不同手术方式对其远期预后的影响。方法从SEER数据库中提取2000年-2019年诊断为duodenal GIST的患者资料,对其进行回顾性分析。采用多因素Cox比例风险模型,分析影响患者预后的危险因素,使用Kaplan-Meier法,分析内镜治疗组和外科手术组远期预后的差异。结果共纳入473例患者,中位年龄59岁,肿瘤中位直径50 mm。65.1%的患者初诊时为局限期,共390例(82.4%)患者接受手术治疗。其中,内镜治疗46例(11.8%),外科手术344例(88.2%)。多因素Cox分析结果显示,年龄>73岁、男性、肿瘤直径>67 mm和发生远处转移,是影响duodenal GIST患者肿瘤特异性生存期(CSS)的独立危险因素(P<0.05),接受内镜或外科手术治疗是CSS的独立保护因素(P<0.05)。内镜治疗和外科手术治疗duodenal GIST患者的长期生存率相似(5年CSS为84.8%和88.2%,10年CSS为80.1%和80.6%,15年CSS为71.2%和72.3%,P>0.05)。结论年龄>73岁、男性、肿瘤直径>67 mm和肿瘤出现远处转移,是影响duodenal GIST预后的独立危险因素,内镜治疗和外科手术治疗duodenal GIST的长期生存率无明显差异。

Molecular Characterization of Gastrointestinal Stromal Tumors (Gist) and Contribution of Immunohistochemistry in Congolese from Kinshasa

Introduction: The differentiation of digestive tumors very often requires the use of techniques currently not widely in use in the Democratic Republic of Congo (DRC), such as immunohistochemistry. This is perfectly verified for GISTs whose precise, or at least highly certain, diagnosis can only be made using immunohistochemical markers. This underuse of these techniques due to lack of equipment and human skills explains the limited epidemiological data available to date, thus leading to untargeted and too often late treatment of patients. Research question: What contribution can immunohistochemical markers make to the diagnosis of digestive tract tumours? Objective: Discuss the contribution of immunohistochemical markers in the diagnosis of GIST and provide basic data on the epidemiology of these nosological entities in Kinshasa. Methodology: This was a retrospective study carried out at the LEBOMA private anatomy and pathological cytology centre. The main inclusion criterion was any digestive tract block or slide whose diagnosis of GIST had been requalified after review by at least 2 pathologists. An immuhistochemical study was performed using an automated technique (with a Ventana XT machine) using a panel of antibodies: CD-117 and DOG-1 which are listed in the literature as strongly correlated with the occurrence of GIST, all slides were made at Hj Hospital using an OLYMPUS BX41 co-observation microscope. Results: Of 601 cases of digestive tumors recorded during the concerned period, 32 (5.32%) concerned GIST. This prevalence was confirmed by our immunohistochemical results where the expression of CD117 and that of DOG-1 were positive in 90.6% and 100% of cases which prevalence is high compared with the worldwide prevalence according to the literature, respectively. The distribution of the patients concerned was made with a sex ratio of 1.6 women/men with a median age of 53 years. Most cases (81%) had a gastric location and were fusiform GISTs. Conclusion: Gastrointestinal stromal tumours, although rare and underestimated, account for 5.32% of cases in the DRC. This is a considerable and high prevalence compared with the world average. To the best of our knowledge, no studies have been carried out on these aspects in the DRC, which explains the importance of this study. The results of this research demonstrated the contribution of these 2 markers as specific and effective biomarkers for optimal and differential diagnosis in GIST. In view of the above, it is therefore more than necessary to popularise the use of these biomarkers in order to contribute effectively to improving the overall management of gastrointestinal tumours by improving their identification.

内镜下手术治疗2~5 cm胃间质瘤的效果

目的探讨2~5 cm胃间质瘤(gastric GIST)患者的内镜下手术效果。方法选取2017年1月-2020年1月于该院接受治疗的gastric GIST患者412例,根据手术方法不同,分为内镜切除手术组(内镜组,196例)和腹腔镜切除手术组(腹腔镜组,216例)。观察两组患者围手术期指标、术后并发症发生情况、肿瘤位置、危险度分级和术后随访情况等。结果内镜组和腹腔镜组性别、年龄、肿瘤位置、危险度分级、既往是否有手术史以及肿瘤起源层次比较,差异均无统计学意义(P>0.05);内镜组手术时间、禁食时间、留置胃管时间、术后住院时间和术后通便时间短于腹腔镜组,术中出血量少于腹腔镜组,术后并发症发生率为18.37%,低于腹腔镜组的27.78%,差异均有统计学意义(P<0.05)。内镜组术后随访13~33个月,平均(23.04±10.38)个月,腹腔镜组术后随访13~35个月,平均(22.71±10.69)个月,内镜组术后复发4例,无转移发生,占比2.04%,腹腔镜组术后复发8例,转移8例,占比7.41%,内镜组手术破损瘤体4例(2.04%),腹腔镜组手术破损瘤体8例(3.70%),均无死亡发生,两组患者上述指标比较,差异无统计学意义(P>0.05)。结论对2~5 cm的gastric GIST患者采用内镜下手术治疗,能够减少术中出血量,促进术后恢复,降低术后并发症发生率,具有较好的安全性,值得临床推广。

发生于直肠及前列腺间并精囊侵犯后2次手术的胃肠间质瘤1例

目的报告发生于直肠及前列腺间的胃肠道间质瘤(gastrointestinal stromal tumor,GIST)1例。方法对贵州医科大学附属医院2021年11月收治的1例54岁男性GIST病例进行报道并对文献复习。结果在外院被诊断为前列腺原发GIST,随后该院影像学显示该肿块与直肠前壁关系密切,并侵犯精囊,且肠镜及直肠指检提示肿块向肠腔突出,提示直肠原发肿瘤可能性大,但病人有排尿困难症状,且术中发现肿瘤与前列腺剥离困难,不排除前列腺原发可能性。结论发生于直肠及前列腺间的GIST,主要通过结合临床表现、影像学、病理结果及免疫组化等判断原发部位,最后可进行术中探查后综合考虑;针对此类肿瘤的治疗方案仍然以手术为主,靶向治疗提高病人无复发生存率。

Esophagogastric Reconstruction in Cobra-Head Shape with Toupet-Like Partial Anti-Reflux Technique for Resection of Proximal Gastric Tumors. Experience with Three Cases from a Non-Asian Population

Background: Proximal gastrectomy is a rarely performed procedure but a feasible option in benign tumors and malignant neoplasms in the proximal third of the stomach since novel options of reconstructions are available nowadays with fewer long-term sequels. Methods: Report of three cases of proximal gastric gastrointestinal stromal tumors (GIST), with a description of its presentation, histological characteristics, and follow-up after being treated with proximal gastrectomy with cobra head reconstruction. Results: Case 1: A 62-year-old woman with epigastric pain of four months with endoscopic evidence of a cardia GIST. The surgery was performed without complications. The histopathological report confirmed a fusiform GIST of 3.2 × 3 × 2.5 cm, stage IA. No adjuvant treatment was considered. An esophagogram showed no evidence of reflux and no stenosis, and no disease recurrence after 40-months follow-up. Case 2: A 66-year-old woman with dyspepsia and a palpable tumor in the epigastrium. The surgery was performed without complications. The pathology report confirmed a proximal gastric GIST of 13 × 8 × 7 cm, staged II. She received adjuvant treatment with imatinib for 36 months without recurrence and no reflux or stenosis. Case 3: A 55-year-old woman with intermittent hematemesis and right subscapular pain. The surgery was performed without complications. The histopathological report concluded that a GIST tumor of the cardia, 1.4 × 1.2 cm, staged IA. She was left in observation. At a 6-month follow-up, she does not report dysphagia, reflux, or stenosis, and no locoregional recurrence. Conclusions: Open and laparoscopic proximal gastrectomy is a safe therapeutic option for GIST. Furthermore, the reconstruction of the esophagus-gastro anastomosis in the cobra head after proximal gastrectomy is feasible and secure in our population, with good functional results in a short follow-up.

Primary Extra-Gastrointestinal Stromal Tumors (E-GIST) of the Liver, about Two Cases and Review of the Literature Oncology Hospital Experience at Chu Hassan II in FES

Introduction: Primary extra-gastrointestinal stromal tumors (E-GIST) of the liver are rare. The clinical presentation can range from asymptomatic to bleeding or manifestations of mass effect. Cancer surgery followed by adjuvant treatment with imatinib is the standard of care. However, in special circumstances, a cytoreductive approach may represent a therapeutic option. We describe here the case of two patients who presented with a painful and protruding epigastric mass, the first case was a localized E-GIST candidate for neoadjuvant treatment with imatinib with complete resection surgery thereafter with very good evolution, and the second is that of an E-GIST of the liver at an advanced stage with an evolution very quick to death. Conclusion: Primary liver E-GIST is a rare condition. Treatment is based on systemic therapy and total resection surgery. However, cytoreductive surgery will be required when complete resection is not possible.

胃胰腺异位伴异位导管成分癌变临床病理学观察

胃胰腺异位(gastric heterotopic pancreas)是以胃黏膜下或肌层内出现胰腺组织为其特征,是一种少见病,临床一般无特征性症状,常在其他胃疾病手术中或尸检中偶然发现。或者因为异位胰腺组织肿块较大,被疑为肿瘤而手术切除后诊断。有时异位肿物中可见Brunner腺或胃黏膜同时出现,或异位的胰腺组织同时有新生平滑肌束混合存在,此时,又称作腺肌瘤。

66例胃肠道间叶源性肿瘤临床和病理特征分析

背景胃肠道间质瘤(GISTs)是发生于胃肠道的一种特殊类型的间叶源性肿瘤,具有从良性到显著恶性的广谱生物学行为,其特征性分子学改变是c鄄kit基因突变,其他胃肠道间叶源性肿瘤(GIMTs)则无此特征。因此,有必要正确认识和诊断GISTs,以将其与其他GIMTs区分开来。目的加强对GISTs的认识,以正确诊断GISTs。方法总结1980～2004年间杨浦区中心医院GIMTs病例的病史资料,选用CD117、CD34、α鄄平滑肌抗体(SMA)、结蛋白(desmin)和S鄄100这一组抗体对GIMTs进行标记、分类,重点分析GISTs的临床、病理和免疫组化特征。结果本组66例GIMTs中56例为GISTs(84.8%),肿瘤多发生于胃和小肠(91.1%),良性和交界性29例,恶性27例,临床表现主要为中上腹不适、腹部包块和消化道出血。间质瘤组织由梭形细胞和上皮样细胞组成,CD117和CD34呈弥漫性强表达,阳性率分别为89.3%和66.1%,部分病例局灶表达α鄄SMA和S鄄100,阳性率分别为30.4%和7.1%,desmin表达均阴性。平滑肌瘤3例,均弥漫性强表达α鄄SMA和desmin,余阴性。神经鞘瘤4例,均弥漫性表达S鄄100,余阴性。其他少见或难以分类的肿瘤3例。结论本组GIMTs中以GISTs最为多见,平滑肌瘤和神经鞘瘤少见。临床工作中应加强对GISTs临床和病理特征的认识,以提高其诊断和治疗水平。

胃肠道间质瘤四例报告

目的 认识胃肠道间质瘤的临床特点以及诊断和治疗方法。方法 回顾分析我院近期收治的 4例胃肠道间质瘤的资料。结果 3例为缺乏分化特征型 ,1例为向平滑肌和神经双向分化型。 4例均手术切除 ,其中2例进行术后化疗。结论 免疫组化检查可病理确诊 。

胃肠道间质瘤的光镜、电镜及免疫组化研究

目的 :进一步探讨胃肠道间质瘤 (GISTs)的组织起源及病理诊断问题。方法 :18例手术切除标本常规石蜡切片、电镜制片及免疫组化EnVision法标记 ,光镜及电镜观察。结果 :本组 18例光镜下组织学形态均表现为梭形细胞。电镜观察 :无明显平滑肌及神经分化者 14例 ,伴有平滑肌分化的 3例 ,伴有神经分化的 1例。免疫组化染色 :18 18例CD117阳性和 15 18例CD34阳性 ,SMA同时阳性者 1例 ,S 10 0同时少量阳性者 2例 ,Desmin和NSE均为阴性。 18例GISTs被诊断为恶性 13例 ,良性 5例。结论 :GISTs是一类具有特征性的独立的肿瘤 ,CD117是GISTs较具特异性的标记物。目前GISTs的良恶性诊断仍需通过包括光镜。

Grb7在胃肠道间质瘤组织中的表达及其临床意义

目的探讨胃肠道间质瘤(GISTs)中Grb7的表达及其临床意义。方法对194例GISTs构建组织微阵列(TMA),采用免疫组织化学染色检测胃肠道间质瘤组织中Grb7蛋白表达。结果在TMA中,184例可评估(94.8%)。Grb7蛋白阳性率为67.4%。Grb7蛋白阳性表达率与NIH分级、细胞异型性、细胞类型、细胞密集程度、出血、黏膜受侵、周围组织侵犯、转移复发有关。Grb7蛋白阳性表达者及蛋白阴性表达者的5年生存率分别为54.9%,80.0%,两者比较有显著性差异(P<0.05)。结论Grb7表达与GISTs预后有关,Grb7可作为判断胃肠道间质瘤预后的标志物。

胃肠道间质瘤临床病理分析

目的 探讨胃肠道间质瘤(GISTs)临床病理、免疫组化及组织分型。方法 35例胃肠道间质瘤行常规检查,Vimentin,Desmin,SMA,S-100、CD34 5种抗体采用SP法免疫组化检测,结果 35例GISTs中,良性GISTs15例,潜在恶性 GITh 5例,恶性GISTs15例,Vimentin,Desmin,SMA,S-100,CD34阳性分别为35(100.00％),3(8.57％),14(40.00％),15(42.86.),33(94.29％),其中GISTs Ⅰ型13例(37.14％),GISTs Ⅱ型7例(20.00％),GISTsⅢ型10例(28.57％),GISTsⅣ型5例(14.29％)。结论 GISTs是胃肠道最常见的间质性肿瘤,具有多向分化特性,HE形态类似,免疫组化在GISTs诊断中起主要作用,CD34和Vimentin有较高的特异性和敏感性。

Ki-67和cyclin D1蛋白表达的检测对胃肠道间质瘤良恶性判断的意义

目的 探讨Ki -67和cyclinD 1蛋白表达的检测对胃肠道间质瘤(GISTs)良恶性判断的意义。方法 应用免疫组织化学EnVision二步法检测41例GISTs组织中Ki -67和cyclinD1蛋白表达情况。结果 41例GISTs分为良性组(6例)、交界组(13例)和恶性组(2 2例) ,良性组、交界组与恶性组GISTs的Ki- 67标记指数分别为(8.5±3 .9) %、(16.8±8.6) %和(2 1.8%±8.3 ) % ,3组Ki 67标记指数比较有非常显著性差异(P <0 .0 1) ;Ki- 67标记指数与核分裂像数目、肿瘤直径及肿瘤坏死有关。良性组、交界组与恶性组GISTs的cyclinD1阳性表达率分别为16.7% (1/6)、5 3 .8% (7/13 )和68.2 % (15 /2 2 ) ,3个组cyclinD 1阳性表达率比较有显著性差异(P <0 .0 5 ) ,且良性组与交界组以及良性组与恶性组间cyclinD1阳性表达率有显著性差异(P <0 .0 5 ) ,但交界组和恶性组cyclinD1阳性表达率比较无显著性差异(P >0 .0 5 ) ;cyclinD 1阳性表达率与核分裂象数目有关,而与肿瘤直径及肿瘤坏死无关。结论 Ki- 67和cyclinD1蛋白是胃肠道间质瘤良恶性判断的有价值参考指标,结合胃肠道间质瘤形态学综合分析,更能准确客观地判断胃肠道间质瘤的良恶性。