小肠的恶性胃肠道间质瘤伴淋巴结转移病理分析

目的 探讨伴淋巴结转移的小肠恶性胃肠道间质瘤的临床病理特征、c-kit基因突变情况,以及对甲磺酸伊马替尼(imatinib mesylate,Glivec)的治疗反应.方法 对2例发生在小肠伴发淋巴结转移的胃肠道间质瘤进行光镜观察、免疫组织化学标志及基因突变分析并随访甲磺酸伊马替尼的治疗效果.结果 2例均为小肠浆膜面肿块,镜下观察肿瘤均以梭形细胞为主,伴有少量上皮样细胞,呈多结节状,并出现大片凝固性坏死;免疫组织化学标志肿瘤细胞CD117阳性,基因突变检测发现均存在c-kit基因第11号外显子的突变.例1显示第11号外显子559～569位点杂合性缺失,伴570、571位点TACATA杂合性突变为GACAGA;例2显示第11号外显子559～565杂合性缺失.结论 小肠胃肠道间质瘤伴淋巴结转移是一种少见病变,需要同发生在此处的其他恶性软组织肿瘤鉴别;该肿瘤对甲磺酸伊马替尼的治疗效果取决于c-kit基因的具体突变类型.     

原发小肠恶性间质瘤伴腹腔广泛转移一例

患者男 ,6 6岁。因间断左中上腹痛二周并发现腹部有包块而于 2 0 0 0年 2月 16日入院。体检 :左中上腹部压疼 ,左侧脐旁可触及一肿物 ,但大小及边界触摸不清。腹部Ｂ超、ＣＴ均显示 :左中上腹部占位性病变 ,肝脏内多发占位性病变 ,考虑为 :转移癌。手术所见 :全腹腔及盆腔的腹膜、肠壁、网膜、系膜上密布大小不等的球形肿物 ,肿瘤部分融合成块 ,有的象葡萄串样 ,肿瘤数目多达近万枚。切除一段空肠上可见一与肠壁紧密黏连的外凸性肿物 ,肿物边界清楚 ,检查肝脏表面及膈面均未见肿瘤组织。临床诊断 ,恶性间皮瘤。病理检查 :送检空肠组织一段 ,…     

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。     

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.     

小肠多发性恶性间质瘤一例

小肠多发性恶性间质瘤一例孙爱静高英贤许元鸿宋继谒患者男，４１岁。因腹痛黑便７天于１９９６年１１月２６日入院。查体：左下腹压痛，轻度反跳痛，行剖腹探查，术中见：从空肠起始部始约７５ｃｍ范围内，小肠腔内密集多发肿物，质硬，多侵破浆膜，表面红，有渗出及粘连...     

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…     

胃肠道间质瘤恶性指标的研究

目的 探讨一组临床病理指标在预测恶性胃肠道间质瘤(GIST)中的价值.方法 回顾性研究840例GIST,假设肉眼播散[包括肝转移和(或)腹腔播散]、显微镜下播散(包括淋巴结转移、血管浸润、脂肪浸润、神经浸润和黏膜浸润)以及肿瘤复发为恶性组,剩余为生物学行为不明组,根据此初步分组后进行多因素分析.结果 多因素分析发现以下形态学指标与恶性组密切相关:核分裂象≥10个/50 HPF、肌层浸润、肿瘤性坏死、围绕血管呈簇状排列以及细胞明显异型(均P<0.01).由此获得了2项肉眼播散、5项镜下播散和5项组织形态学指标.485例具有其中任意一项指标者归入恶性组,其余355例为非恶性组.随访资料提示非恶性组患者5年无瘤生存率(DFS)及5年总生存率(OS)分别为99.3%和100%,而恶性组患者5年DFS及5年OS分别为43.9%和59.7%,恶性组与非恶性组5年DFS与5年OS差异有统计学意义(均为P<0.01).结论 此组12项临床及形态学指标能有效地将恶性GIST从非恶性GIST中区分开来,可用于区分GIST的性质.     

胃肠道间质瘤88例诊治分析

目的 探讨胃肠道间质瘤的诊断及治疗.方法 回顾分析我院2002年2月～2010年6月经手术证实的88例胃肠道间质瘤的临床资料.结果 肿瘤发生于胃44例,小肠20例,肠系膜9例,结直肠6例,十二指肠3例,肝脏3例,盆腔2例,食管1例.完整切除80例,因肿瘤广泛转移行局部切除或活检8例.无手术死亡病例,62例获随访,13例术后复发.结论 外科手术是治疗GIST的首要措施,伊马替尼的靶向治疗可改变复发或转移病人的预后.     

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.     

Gastrointestinal stromal tumor associated with obliterative foam cell vasculopathy

The histologic spectrum of gastrointestinal stromal tumor (GIST) is wide, but as far as we are aware, a specific intraneoplastic vasculopathy has not been described in it. This is the first report of foam cell vasculopathy in a GIST. This combination of lesions arose in a 66-year-old obese woman in treatment for hypothyroidism, hypercholesterolemia and hypertension. The patient presented a 7 cm GIST, located in the anterior wall of the stomach, which histologically showed vessels of varying sizes with striking intimal foam cell infiltration, occasional fibrinoid necrosis, hyalinization, and marked luminal narrowing or occlusion. There was a transmural lymphocytic infiltrate predominantly involving the small vessels. As a consequence of the vasculopathy, extensive tumor areas showed cellular hydropic swelling and microcyst formation. No changes of vasculopathy were observed in non-tumor vessels. The foam cell vasculopathy we have documented was a diffuse process within the GIST, and can be considered an exceptional type of intratumor necrotizing vasculitis.     

Polypoid gastrointestinal stromal tumor of small bowel metastasizing to mesenteric lymph nodes: a case report

Gastrointestinal stromal tumor (GIST) is the commonest gastrointestinal mesenchymal tumor, which rarely metastasizes to lymph nodes. Therefore, unlike cases of adenocarcinoma, lymphadenectomy is seldom warranted. We describe an unusual case of a polypoid GIST of the small bowel which metastasized to the regional mesenteric lymph nodes at the time of primary surgery. The patient was a 79-year-old female who presented with partial bowel obstruction and anemia. The presented case has three unusual features, as the tumor was grossly pedunculated, microscopically pleomorphic, and featured mesenteric lymph node metastasis at the time of diagnosis.     

Gastrointestinal stromal tumors: a contemporary review

The literature on gastrointestinal stromal tumors (GISTs) has rapidly expanded and has demonstrated how scientific advancements in diagnosis can revolutionize the understanding of disease, while paving the way for effective treatment. While KIT (CD117) immunohistochemistry has established our definition of GISTs, molecular genetics continue to refine it. Elucidation of the aberrant receptor tyrosine kinase (RTK) model of GIST pathogenesis through mutations in c-kit and platelet-derived growth factor alpha PDGFR proto-oncogenes has been prerequisite to the use of imatinib mesylate (STI571, Gleevec; Novartis, Switzerland), a molecular inhibitor of several tyrosine kinases, in the treatment of GISTs. In addition to providing a means for effective treatment, clarification of the molecular pathology of GISTs may potentially offer a new classification of these tumors by correlating genotype with histological, immunohistochemical, and clinical phenotype. This article seeks to review current knowledge of GISTs, offering a practical guide to their diagnosis and describing current epidemiological, molecular biological, and therapeutic aspects.     

Mixed endometrial stromal and smooth muscle tumor with heart metastasis: report of a case and review of literature

We presented a case of mixed endometrial stromal sarcoma and smooth muscle cell tumor of the uterus with intravenous metastasis into the right heart. 50 hot mutated key genes of solid tumors were detected by next generation sequencing. The literature about the diagnostic and therapeutic strategies of the disease were reviewed.     

肾混合性上皮间质肿瘤4例报道及文献复习

目的 探讨肾混合性上皮间质肿瘤（mixed epithelial and stromal tumor of the kidney,MESTK）的临床病理学特点、免疫表型和鉴别诊断。方法 运用光镜和免疫组化方法分析4例MESTK,并复习有关文献。结果 女性3例、男性1例,平均发病年龄为39岁。临床表现为腰痛、肉眼或镜下血尿。巨检肿瘤境界清楚,呈实性。镜检以不等量增生、囊性扩张腺上皮与不同排列方式的梭形细胞间质混合组成为特征。免疫表型为梭形细胞vimentin（3／3）、desmin（2／4）、SMA（3／4）、ER（2／3）、PR（3／3）呈阳性表达,不表达CD34（0／3）、S-100蛋白（0／2）、HMB45（0／2）;上皮细胞CKpan（4／4）、EMA（4／4）呈阳性表达。结论 MESTK是一种少见的。肾良性混合性肿瘤,其诊断主要依靠组织病理学和免疫组化标记。     

Splenosis in gastric fundus mimicking gastrointestinal stromal tumor: a report of two cases and review of the literature

Splenosis refers to heterotopic autotransplantation and implantation of splenic tissue following splenic trauma or surgery. Splenosis in gastric fundus is rare and difficult to diagnose, since splenosis has similar manifestation with gastrointestinal stromal tumor (GIST) under routine endoscopy examination. In this report, we present two quite rare case of splenosis. Both of their pre-operative diagnose under endoscopic ultrasonography was considered as GIST. Finally, one in the abdominal cavity, adhering closely to the gastric fundus, measuring 20 mm × 15 mm, was resected by surgical operation, and one in the gastric fundus, measuring 20 mm × 20 mm, was resected by endoscopic surgery. The precise diagnosis of splenosis was distinct by post-operative histopathologic examination. In addition, we also made a mini review of previously published articles, in order to provide indication to solve future doubts in diagnosing and treating splenosis.     

Dedifferentiated gastrointestinal stromal tumor arising de novo from the small intestine

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and usually display monotonous cytologic features and immunoactivity for CD117. Anaplastic GIST, with pleomorphic cells and loss of CD117, until recently have only been reported in patients with chronic imatinib mesylate treatment. Dedifferentiated GISTs arising de novo is a newly identified entity that may prove to be difficult to diagnose. We present the case of a 52-year-old female found to have a dedifferentiated GIST without prior imatinib mesylate therapy. This case is the first reported dedifferentiated GIST arising de novo from the small bowel, and at 30 cm in greatest diameter, the largest reported to date. Additionally, we demonstrate for the first time the loss of DOG1 in the anaplastic component of the tumor. De novo dedifferentiated GIST is a rare and diagnostically challenging tumor that may be mischaracterized unless considered in the differential diagnosis.     

Typical laryngeal carcinoid tumor with recurrence and lymph node metastasis: a case report and review of the literature

Typical carcinoid tumor of the larynx is an extremely rare lesion which arises from neuroendocrine cells scanning in the laryngeal mucosa or submucosal glands. Conventionally, it is a well-differentiated neuroendocrine carcinoma, conservative surgery represents the treatment of choice, and the patient usually has a good prognosis with rarely recurrence and metastasis. In this report, we present a case of typical laryngeal carcinoid tumor with recurrence and lymph node metastasis. The patient was a 58-year-old man, complaints of intermittent burning pain in his both ears for 2 years, and for the recent one month the pain turn to continuous accompanied with a mild discomfort in the throat, he had neither hoarseness, dysphagia, nor any otorrhea and hearing loss. The patient was scheduled to undergo a tracheotomy and then a biopsy under supporting laryngoscopy. During the operation, the frozen section diagnosis from the first and the second time both indicated that the biopsy specimens originated from musculo-epithelia, it couldn’t be differed from malignant to benign. So the mass was simply removed under supporting laryngoscopy. The histopathology from paraffin sections revealed typical carcinoid of the larynx and the second procedure consisted of supraglottic laryngectomy with clear margins, the otalgia resolved and the patient had no difficulty with phonation or swallowing. After 1 year follow-up, the patient was found a mass on his right neck with symptom free, B-ultrasonography indicated several enlargement lymph nodes with some merged on both sides of the neck, the patient was scheduled to undergo a “total-laryngectomy with radical neck dissection on the left side and an elective neck dissection on the right side”. The specimens were positive for cytokeratin, chromogranin A and synaptophysin, a final diagnosis of typical carcinoid was made for the recurrence lesion and the metastasis of the lymph nodes. Though the post-operative recovery was uneventful, the prognosis was not good, the patient died six months later. Here, we review the pertinent references on this subject, and discuss the main managements for typical carcinoid tumor of the larynx.