MEN1基因与肺神经内分泌肿瘤

MEN1基因为近年发现的多内分泌肿瘤综合征1型（multiple endocrine neoplasia type 1 syndrome,MEN1)的易感基因。肺神经内分泌肿瘤约占肺癌的1／3，包括典型类癌、非典型类癌、小细胞未分化肺癌及大细胞神经内分泌癌。本文综述了MEN1基因的结构、功能、失活机制的研究进展及与其肺神经内分泌肿瘤发生、发展的关系，分析了MEN1基因研究中存在的问题。     

MENl基因与肺神经内分泌肿瘤

MEN1基因为近年发现的多内分泌肿瘤综合征1型(multiple endocrine neoplasia type I syndrome,MEN1)的易感基因.肺神经内分泌肿瘤约占肺癌的1/3,包括典型类癌、非典型类癌、小细胞未分化肺癌及大细胞神经内分泌癌.本文综述了MEN1基因的结构、功能、失活机制的研究进展及与其肺神经内分泌肿瘤发生、发展的关系,分析了MEN1基因研究中存在的问题.     

MEN1基因与肺神经内分泌肿瘤

MEN1基因为近年发现的多内分泌肿瘤综合征1型(multiple　endocrine neoplasia type 1　syndrome,MEN1)的易感基因。肺神经内分泌肿瘤约占肺癌的1/3,包括典型类癌、非典型类癌、小细胞未分化肺癌及大细胞神经内分泌癌。本文综述了MEN1基因的结构、功能、失活机制的研究进展及与其肺神经内分泌肿瘤发生、发展的关系,分析了MEN1基因研究中存在的问题。     

胃多发神经内分泌瘤内镜诊治1例

相较于胰腺、直肠、空回肠等神经内分泌瘤,胃神经内分泌瘤更为少见。按中国胃肠胰神经内分泌瘤专家共识（2016年版）,胃神经内分泌瘤可分为3型,1型占70%~80%,2型占5%~6%,3型占14%~25%。笔者报道了1例胃多发神经内分泌瘤,结合临床症状、内镜下表现、病理（免疫组化结果）、内分泌及免疫学指标等,诊断为罕见的2型胃神经内分泌瘤。     

肺的神经内分泌肿瘤主要的放射学表现

目的探讨在一系列的原发性神经内分泌肿瘤(NTLs)病例的关键影像学表现,特别是CT表现。方法分析评估22例病理诊断确诊的(NTLs)患者(12例男性,平均年龄60岁)影像学表现,描述侧重于计算机体层摄影在观察到的变化。结果 5个典型类癌、3个非典型类癌、3个大细胞神经内分泌癌(LCNCs)和11个小细胞肺癌(SCLCs)。只有一个典型类癌特征表现为中央支气管结节合并远端肺不张,而其他表现为的肺结节或肿块;非典型类癌对应了外围混杂密度肿块;3个LCNCs有一个是周围的均质肿块,其他则是边界不清和混杂密度;11个SCLCs对应了中央的、浸润的和非均质肿块及继发的肺及胸膜改变,钙化未在LGNCs和SCLCs表现。LCNCs和SCLCs的所有病例均在较早及后续随访观察发现转移。结论虽然一些成像特点可能类似,但影像学表现与临床信息可能在分别NTLs的组织学类型的发挥相关作用。     

胃肠神经内分泌肿瘤和胰腺神经内分泌肿瘤的区别

胃肠胰神经内分泌肿瘤（GEP-NETs）主要来源于胃肠胰系统的神经内分泌细胞,这一细胞系统和肿瘤是以表达细胞类型特异的肽激素和普通标记物（突触囊泡蛋白、铬粒素A）为特征。其特点为：临床上少见;肿瘤通常较小（〈1 cm）;生长速度较慢（数月或数年）,呈阶段性表达,可能数年无症状;通常在出现症状前即有转移,转移部位多为肝脏和骨,而此时肿瘤的体积通常〉2cm。因此这类肿瘤经常被误诊,诊断过程较复杂,不单单依靠临床,往往需要高端的实验室和扫描手段支持。而GEP-NETs中胃肠神经内分泌肿瘤（NET）和胰腺NET,两者在临床表现、诊断和治疗方面也有不同,需要临床医生重视和加以区分。     

Vater壶腹神经内分泌瘤合并胃肠道间质瘤1例报告

<正>神经内分泌瘤（neuroendoocrine tumor,NET）是一种起源于神经内分泌细胞的异质性肿瘤,可发生于消化道、胰腺、甲状腺、肾上腺、卵巢等器官^[1],发生于Vater壶腹的NET较为罕见,占胃肠道NET的0.3%～1%^[2],而Vater壶腹NET并发胃肠道间质瘤（gastrointestinal stromal tumors,GIST）的病例更罕见,迄今为止未见文献报道。本文将1例Vater壶腹NET合并GIST的病例结合相关文献报道如下。     

内镜诊断胃混合性神经内分泌-非神经内分泌肿瘤1例

报道1例内镜下诊断胃混合性神经内分泌-非神经内分泌肿瘤病例,结合病例的诊疗过程,分析总结其组织学起源、临床特点及内镜诊疗等。     

Case of a tumor comprising gastric cancer and duodenal neuroendocrine tumor

The present report describes a rare case of a tumor composed of early gastric cancer and a duodenal neuroendocrine tumor (NET). A 78-year-old woman underwent esophagogastroduodenoscopy at a local institution for screening of the upper gastrointestinal tract which revealed a protruded tumor through the pyloric ring from the pyloric antrum. The tumor was too large to treat at the facility; consequently, she was referred to our hospital for further management. Esophagogastroduodenoscopy with tumor biopsy of the lesion revealed the diagnosis of early gastric cancer. Endoscopic submucosal dissection was performed with sufficient free margins in both vertical and horizontal directions. Histopathological findings showed NET confined to the submucosal layer and covered by well-differentiated adenocarcinoma. Immunohistochemical stainings showed that the two lesions existed continuously. While the possibility of a collision cancer was considered, it was suggested that the two lesions existed continuously. Finally, the tumor was diagnosed as gastric cancer composed of duodenal NET G1, with a lymphatic invasion of NET component.     

Multidisciplinary management of nonfunctional neuroendocrine tumor of the pancreas

Pancreatic neuroendocrine tumors(PNETs) are a rare and diverse group of tumors; nonfunctional(NF) PNETs account for the majority of cases. Most patients with NF-PNETs have metastatic disease at the time of presentation. A variety of treatment modalities exist, including medical, liver directed, and surgical treatments. Aggressive surgical management is associated with prolonged survival, however available data are limited by selection bias and the frequent combination of PNETs with carcinoid tumors. Although few patients with metastatic disease will be cured, application of currently available therapies in a multidisciplinary setting can lead to excellent outcomes with prolonged patient survival.     

肝脏神经内分泌肿瘤报道1例并文献回顾

背景肝脏可疑恶性肿瘤行手术切除后病理诊断肝脏神经内分泌肿瘤(hepatic neuroendocrin neoplasmas,HNENs)病例,此病例易与肝癌混淆,了解转移性和原发性HNENs的特性,对临床治疗手段有很好的指导意义.病例简介一名56岁男性患者体检发现肝脏占位性病变复查腹部增强CT提示肝脏转移性恶性肿瘤可能;胃部包块考虑良性.手术切除胃部包块并行术中冰冻病理检查提示梭形细胞肿瘤;完整切除肝脏包块术后石蜡病理检查结果提示NENs(G2),患者术后恢复佳.结论本文报道了一例HNENs,考虑转移性.术前诊断不能排除肝脏转移性恶性肿瘤可能.通过对患者病情的详细分析,最终行手术切除治疗并行病理检查确诊.同时我们对HNENs相关文献进行了分析,进一步了解原发和转移性HNENs的临床特征、治疗方案以及预后,以期对此类疾病有更深入的了解,对临床治疗方案决策做证据支撑作用.     

Intramedullary spinal cord metastasis from pancreatic neuroendocrine tumor

Intramedullary spinal cord metastasis (ISCM) is very rare and its optimal treatment remains controversial. Pancreatic neuroendocrine tumor (pNET) is a rare tumor that usually presents with hepatic metastasis. Hepatic failure due to tumor progression is the major cause of death in cases of pNET. To date, no report has described a case of ISCM from pNET. Although spinal cord metastasis of a solid tumor is uncommon, it is a critical condition that can cause a potentially irreversible loss of neurologic function. Here, we report the case of a 45-year-old man who presented with leg weakness and voiding difficulty, and was found to have ISCM from pNET. Surgical treatment prevented further neurological deterioration. This is the first case report of ISCM from pNET.     

Double Ki-67 and synaptophysin labeling in pancreatic neuroendocrine tumor biopsies

BackgroundPancreatic neuroendocrine tumors (PanNETs) are frequently detected on endoscopic ultrasound-guided fine-needle aspiration biopsy (EUS-FNAB) specimens. The conventional methods for evaluating the Ki-67 labeling index (Ki67LI) in EUS-FNAB specimens are laborious, and their results are difficult to interpret. More practical and easy methods for evaluating the Ki67LI in PanNETs from EUS-FNAB specimens is increasing in need.MethodsWe used double Ki-67 and synaptophysin (double Ki-Syn) antibody cocktail; Ki67LI, total Ki-67 positive cells, and total tumor cells were counted and compared with those detected on conventional single Ki-67 immunostaining (single Ki-67) of 96 PanNETs [Grade 1 (G1), 68 cases (71%); G2, 26 (27%); G3, 2 (2%)] from EUS-FNAB specimens.ResultsThe tumor grading between double Ki-Syn and single Ki-67 immunolabeling was highly concordant (correlation, 0.95; Fisher's exact test, P < 0.001). Seven EUS-FNAB specimens (7%) had discrepant results, of which 2 were removed through surgical resection and showed the same tumor grade as that detected on double Ki-Syn immunolabeling. Fifty-four specimens (56%) had higher Ki-67 positive tumor cell counts on single Ki-67 immunolabeling. Sixty-two specimens (65%) had higher total tumor cell counts on double Ki-Syn immunolabeling. The number of specimens with less than 500 total counted tumor cells were significantly reduced when double Ki-Syn immunolabeling was applied [P = 0.046; single Ki-67, 17 specimens (18%); double Ki-Syn, 9 specimens (9%)].ConclusionDouble Ki-Syn immunolabeling enables the accurate counting of the number of proliferating tumor cells without including inflammatory and contaminant epithelial cells compared with single Ki-67 immunolabeling in PanNETs from EUS-FNAB specimens.     

Laparoscopic transduodenal local resection of periampullary neuroendocrine tumor: A case report

Studies on laparoscopic transduodenal local resection have not been readily available.Only three cases have been reported in the English-language literature.We describe herein a case of 25-year-old woman with periampullary neuroendocrine tumor(NET).Endoscopic ultrasonography revealed a duodenal papilla mass originated from the submucosa and close to the ampulla.The periampullary tumor was successfully managed with laparoscopic transduodenal local resection without any procedure-related complications.Pathological examination showed a NET(Grade 2)with negative margin.The patient was followed up for six months without signs of recurrence.This case suggests that laparoscopic transduodenal local resection is a feasible procedure in selected patients with periampullary tumor.     

Unexpected endoscopic full-thickness resection of a duodenal neuroendocrine tumor

A 57-year-old man underwent endoscopy for investigation of a duodenal polyp. Endoscopy revealed a hemispheric submucosal tumor, about 5 mm in diameter, in the anterior wall of the duodenal bulb. Endoscopic biopsy disclosed a neuroendocrine tumor histologically, therefore endoscopic mucosal resection was conducted. The tumor was effectively and evenly elevated after injection of a mixture of 0.2% hyaluronic acid and glycerol at a ratio of 1:1 into the submucosal layer. A small amount of indigo-carmine dye was also added for coloration of injection fluid. The lesion was completely resected en bloc with a snare after submucosal fluid injection. Immediately, muscle-fiber-like tissues were identified in the marginal area of the resected defect above the blue-colored layer, which suggested perforation. The defect was completely closed with a total of 9 endoclips, and no symptoms associated with peritonitis appeared thereafter. Histologically, the horizontal and vertical margins of the resected specimen were free of tumor and muscularis propria was also seen in the resected specimen. Generally, endoscopic mucosal resection is considered to be theoretically successful if the mucosal defect is colored blue. The blue layer in this case, however, had been created by unplanned injection into the subserosal rather than the submucosal layer.     

Diagnosis and management of pancreatic neuroendocrine tumor in von Hippel-Lindau disease

The pancreatic manifestations seen in patients with von Hippel-Lindau(VHL) disease are subdivided into 2 categories:pancreatic neuroendocrine tumors(NET),and cystic lesions,including simple cyst and serous cystadenoma.The VHL-associated cystic lesions are generally asymptomatic and do not require any treatment,unless they are indistinguishable from other cystic tumor types with malignant potential.Because pancreatic NET in VHL disease are non-functioning and have malignant potential,it is of clinical importance to find and diagnose these as early as possible.It will be recommended that comprehensive surveillance using dynamic computed tomography for abdominal manifestations,including pancreatic NET,should start from the age of 15 years in VHL patients.Unlike sporadic non-functioning NET without VHL disease,in which surgical resection is generally recommended,VHL patients at lower metastatic risk of pancreatic NET should be spared the risks of operative resection.     

Ampullary neuroendocrine tumor diagnosed by endoscopic papillectomy in previously confirmed ampullary adenoma

Ampullary adenoma is a common indication for endoscopic papillectomy. Ampullary neuroendocrine tumor(NET) is a rare disease for which complete surgical resection is the treatment of choice. However, because of the morbidity and mortality associated with surgical resection, endoscopic papillectomy is increasingly used in selected cases of low grade, with no metastasis and no invasion of the pancreatic or bile duct. Also, confirmed and complete endoscopic resection of ampullary NET accompanied by adenoma has not been reported to date. We report herein a rare case of an ampullary NET accompanied with adenoma, which was successfully and completely resected via endoscopic papillectomy. Prior to papillectomy, this case was diagnosed as an ampullary adenoma.