carcinoid syndrome

类癌综合征
  • 文章类型: Journal Article
    类癌综合征(CS)通常由神经内分泌肿瘤引起。虽然活性物质被认为是腹泻和皮肤潮红等典型症状的主要原因,肠道菌群丰度与CS之间的因果关系尚不清楚.
    从GWAS汇总数据获得与肠道微生物群丰度和CS相关的单核苷酸多态性(SNP)。使用逆方差加权(IVW)方法评估肠道微生物群丰度与CS之间的因果关系。此外,MR-Egger,加权中位数模型,并采用加权模型作为补充方法。利用TwoSampleMR包的异质性功能来评估SNP是否表现出异质性。使用Egger截距和Presso检验来评估SNP是否表现出多效性。采用Leave-One-Out测试来评估SNP的敏感性。Steiger检验用于检查SNP是否具有反向因果关系。进行了双向孟德尔随机化(MR)研究,以阐明肠道微生物群丰度与CS之间的因果关系。
    IVW结果表明6个肠道微生物群与CS之间存在因果关系。在6个肠道微生物类群中,厌氧菌属(IVWOR:0.3606,95CI:0.1554-0.8367,p值:0.0175)对CS具有保护作用。另一方面,科氏杆菌科(IVWOR:3.4572,95CI:1.0571-11.3066,p值:0.0402),肠纹病属(IVWOR:4.2496,95CI:1.3314-13.5640,p值:0.0146),Ruminiclostridium6属(IVWOR:4.0116,95CI:1.2711-12.6604,p值:0.0178),Veillonella属(IVWOR:3.7023,95CI:1.0155-13.4980,p值:0.0473)和Holdemanella属(IVWOR:2.2400,95CI:1.0376-4.8358,p值:0.0400)对CS产生不利影响。未发现CS与上述6个肠道微生物群存在反向因果关系。
    发现六个微生物群与CS有因果关系,需要进一步的随机对照试验进行验证。
    UNASSIGNED: Carcinoid syndrome (CS) commonly results from neuroendocrine tumors. While active substances are recognized as the main causes of the typical symptoms such as diarrhea and skin flush, the cause-and-effect relationship between gut microbiota abundance and CS remains unclear.
    UNASSIGNED: The Single Nucleotide Polymorphisms (SNPs) related to gut microbiota abundance and CS were obtained from the GWAS summary data. The inverse variance weighted (IVW) method was used to assess the causal relationship between gut microbiota abundance and CS. Additionally, the MR-Egger, Weighted Median model, and Weighted model were employed as supplementary approaches. The heterogeneity function of the TwoSampleMR package was utilized to assess whether SNPs exhibit heterogeneity. The Egger intercept and Presso test were used to assess whether SNPs exhibit pleiotropy. The Leave-One-Out test was employed to evaluate the sensitivity of SNPs. The Steiger test was utilized to examine whether SNPs have a reverse causal relationship. A bidirectional mendelian randomization (MR) study was conducted to elucidate the inferred cause-and-effect relationship between gut microbiota abundance and CS.
    UNASSIGNED: The IVW results indicated a causal relationship between 6 gut microbiota taxa and CS. Among the 6 gut microbiota taxa, the genus Anaerofilum (IVW OR: 0.3606, 95%CI: 0.1554-0.8367, p-value: 0.0175) exhibited a protective effect against CS. On the other hand, the family Coriobacteriaceae (IVW OR: 3.4572, 95%CI: 1.0571-11.3066, p-value: 0.0402), the genus Enterorhabdus (IVW OR: 4.2496, 95%CI: 1.3314-13.5640, p-value: 0.0146), the genus Ruminiclostridium6 (IVW OR: 4.0116, 95%CI: 1.2711-12.6604, p-value: 0.0178), the genus Veillonella (IVW OR: 3.7023, 95%CI: 1.0155-13.4980, p-value: 0.0473) and genus Holdemanella (IVW OR: 2.2400, 95%CI: 1.0376-4.8358, p-value: 0.0400) demonstrated a detrimental effect on CS. The CS was not found to have a reverse causal relationship with the above 6 gut microbiota taxa.
    UNASSIGNED: Six microbiota taxa were found to have a causal relationship with CS, and further randomized controlled trials are needed for verification.
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  • 文章类型: Journal Article
    神经内分泌肿瘤(NENs)是一组具有神经内分泌分化的异质性肿瘤,可来自任何器官。它们占美国所有恶性肿瘤的2%。相当比例的NEN患者经历内分泌失衡后增加的胺或肽激素分泌,影响他们的生活质量和预后。在过去的十年里,病理分类,NENs-高分化神经内分泌肿瘤(NETs)和低分化神经内分泌癌(NECs)的诊断技术和治疗选择已经有了明显的发展。NEN的诊断主要取决于临床特征或偶然的影像学发现。激素或非激素生物标志物(如血清5-羟色胺,尿液5-HIAA,胃泌素和VIP)和疑似NEN的组织学是,因此,对于确认诊断和分类为NET或NEC都至关重要。基于更好的分子理解,NENs的治疗最近取得了进展,包括mTOR的参与,VEGF和肽受体放射性核素治疗(PRRT),这增加了越来越多的证据支持超越完全切除的治疗可能性。由于NENs的发病率在美国和其他几个国家呈上升趋势,医生更有可能看到这些病例,他们更好的理解可能支持早期诊断和为患者量身定制治疗。我们已经收集了NEN的临床重要证据,包括临床实践的相关变化,这些变化极大地更新了我们对NEN患者的诊断和治疗方法。
    Neuroendocrine neoplasms (NENs) are a group of heterogeneous tumors with neuroendocrine differentiation that can arise from any organ. They account for 2% of all malignancies in the United States. A significant proportion of NEN patients experience endocrine imbalances consequent to increased amine or peptide hormone secretion, impacting their quality of life and prognosis. Over the last decade, pathologic categorization, diagnostic techniques and therapeutic choices for NENs-both well-differentiated neuroendocrine tumors (NETs) and poorly differentiated neuroendocrine carcinomas (NECs)-have appreciably evolved. Diagnosis of NEN mostly follows a suspicion from clinical features or incidental imaging findings. Hormonal or non-hormonal biomarkers (like serum serotonin, urine 5-HIAA, gastrin and VIP) and histology of a suspected NEN is, therefore, critical for both confirmation of the diagnosis and classification as an NET or NEC. Therapy for NENs has progressed recently based on a better molecular understanding, including the involvement of mTOR, VEGF and peptide receptor radionuclide therapy (PRRT), which add to the growing evidence supporting the possibility of treatment beyond complete resection. As the incidence of NENs is on the rise in the United States and several other countries, physicians are more likely to see these cases, and their better understanding may support earlier diagnosis and tailoring treatment to the patient. We have compiled clinically significant evidence for NENs, including relevant changes to clinical practice that have greatly updated our diagnostic and therapeutic approach for NEN patients.
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  • 文章类型: Case Reports
    BACKGROUND: Neuroendocrine tumors (NETs) can secrete bioactive amines in the bloodstream, resulting in the carcinoid syndrome characterized by diarrhea and flushing. The frequency of occurrence of primary cardiac neuroendocrine neoplasms is lesser than that of metastases, and hence, metastases must be adequately ruled out before diagnosis. Cardiac tumors, both primary and metastatic, mainly result in heart-related symptoms, such as heart failure and acquired valvular dysfunction. Here, we report a unique case of a primary left ventricular neuroendocrine tumor presenting with diarrhea.
    METHODS: A 51-year-old female complaining of intermittent diarrhea for 2 years was admitted to our hospital. Enhancement of total abdominal computed tomography scan, echocardiography, and magnetic resonance imaging indicated a mass in the left ventricle. The indexes of myocardial enzymes were normal. Histologically, round cells with well-differentiated neuroendocrine morphology were arranged in typical pseudo-glandular, trabecular, ribbon-like, and solid nest patterns. Immunohistochemically, the tumor cells were positive for cytokeratin, chromogranin, synaptophysin, and CD56. However, they were negative for caudal type homeobox 2, S100, paired box gene 8, thyroid transcription factor 1, and CD20, which ruled out the origin of gastrointestinal, pancreatic, lung, and Merkel cell carcinomas. The symptoms of diarrhea disappeared after the operation. The patient was asymptomatic at the 9-month follow-up.
    CONCLUSIONS: Cardiac neuroendocrine tumors with diarrhea are considerably rare and related clinical research is limited. We presented a case and reviewed related articles to improve the identification, diagnosis, and management of patients with cardiac neuroendocrine tumors. The site of origin of a neuroendocrine tumor is clinically vital, and identification of an occult primary tumor using imaging modalities is necessary. Immunohistochemistry is well-suited to indicate the origin of the tumor. Regular follow-up is necessary for both poorly differentiated and well-differentiated cardiac neuroendocrine tumors. It is suggested to detect some neuroendocrinal markers for patients with unexplained reasons of diarrhea.
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