MALAT1

MALAT1
  • 文章类型: Case Reports
    胃母细胞瘤是一种极其罕见的胃肿瘤。其发病机制尚不清楚,临床症状缺乏特异性。本文旨在报道一例胃母细胞瘤,为其诊断提供参考,治疗,和这种疾病的预后。
    回顾性报道一例51岁女性胃母细胞瘤的诊断和治疗。结合患者影像学、病理结果等临床资料与相关文献进行分析。
    患者的主诉是黑便的存在持续超过两周。腹部增强CT显示胃窦结节,微探头超声内镜被认为是“胃窦突出病变”。入院后初步诊断为“胃间质瘤”,2021年9月23日进行了手术治疗。术后病理示:胃混合性上皮间质瘤,结合免疫组织化学染色,提示胃母细胞瘤。在2年的随访中没有观察到肿瘤复发或转移的迹象。
    结合现有文献报道,胃母细胞瘤的发病率主要在年轻男性中较高,好发部位是胃窦.肿瘤的生物学行为趋于惰性,大多数病例的预后良好。然而,由于案件数量极少,这一结论仍需要大量病例和后续数据来支持。术后病理及免疫组化检查是目前唯一明确诊断的方法,手术是治疗的首选。
    UNASSIGNED: Gastroblastoma is an extremely rare gastric tumor. Its pathogenesis remains unclear and there is a lack of specific clinical symptoms. The aim of this paper is to report a case of gastroblastoma and provide references for the diagnosis, treatment, and prognosis of this disease.
    UNASSIGNED: The diagnosis and treatment of a 51-year-old female patient with gastroblastoma were retrospectively reported. Analyzing this case by combining the clinical data such as imaging and pathological results of patients with the relevant literature.
    UNASSIGNED: The patient\'s chief complaint was the presence of melena persisted for over two weeks. Abdominal contrast-enhanced CT showed gastric antral nodules, and micro-probe endoscopic ultrasonography was considered as \"gastric antral protruding lesions\". The initial diagnosis of \"gastric stromal tumor\" was made after admission, and surgical treatment was performed on September 23, 2021. Postoperative pathology showed that gastric mixed epithelial and stromal tumor, combined with immunohistochemical staining, was suggestive of gastroblastoma. No signs of tumor recurrence or metastasis were observed during the 2-year follow-up.
    UNASSIGNED: Combined with the existing literature reports, the incidence of gastroblastoma is mainly higher in young men, and the predilection site is gastric antrum. The biological behavior of the tumor tends to be indolent, and the prognosis of most cases is favorable. However, due to the extremely small number of cases, this conclusion still needs a large number of cases and follow-up data to support. Postoperative pathological and immunohistochemical examination results are the only methods for definite diagnosis at present, and surgery is the first choice for treatment.
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  • 文章类型: Journal Article
    背景:2型糖尿病(T2DM)是一种慢性,终身疾病。T2DM的分子机制和病理生理学尚未完全阐明。长非编码RNA转移相关的肺腺癌转录物1(lncRNAMALAT1)的失调被认为是许多疾病中发现的功能障碍的主要促成因素之一。包括内分泌系统。这项研究的目的是研究lncRNAMALAT1单核苷酸多态性(SNP)与中国汉族人群T2DM之间的关系。
    方法:我们对三个SNP进行了基因分型(rs3200401C>T,rs619586A>G,MALAT1基因的rs11227209C>G),包括571名T2DM患者和526名对照。采用logistic回归分析不同基因型与2型糖尿病发病风险的关系,结果用比值比(OR)及其95%置信区间(95CI)表示,然后按年龄分层,性别,BMI。两侧P<0.05被认为具有统计学意义。
    结果:我们发现rs3200401多态性的CT+TT基因型与中国汉族人群的T2DM风险增加显著相关(OR=1.77;95%CI:1.35-2.33;P调整<0.001)。而MALAT1rs619586AG+GG基因型与T2DM风险降低相关(OR=0.67;95%CI:0.48-0.94;P调整=0.021).随后的分层分析表明,与rs3200401CC基因型相比,CT+TT基因型与男性的T2DM风险增加相关,女性,年龄≥65岁,和BMI≥24亚组(OR=1.68,95%CI:1.10-2.56,P调整=0.016;OR=1.83,95%CI:1.27-2.62,P调整=0.001;OR=1.86,95%CI:1.38-2.52,P调整<0.001;OR=2.13,95%CI:1.45-3.15,P调整<0.001)。单倍型分析显示,T-A-C单倍型的T2DM风险增加1.533倍(95%CI,1.208-1.945,P<0.001),C-G-G与T2DM风险降低相关。rs11227209与T2DM风险无显著相关性(P>0.05)。
    结论:结果表明,MALAT1rs619586和rs3200401在中国汉族人群中具有T2DM的易感性,并为未来糖尿病及其并发症的治疗提供了新的遗传靶标。
    BACKGROUND: Type 2 diabetes mellitus (T2DM) is a chronic, lifelong disease. The molecular mechanisms and pathophysiology of T2DM have not yet been fully elucidated. Dysregulation of the long non-coding RNA metastasis associated lung adenocarcinoma transcript 1 (lncRNA MALAT1) is considered one of the main contributing factors of the dysfunction found in many diseases, including those of the endocrine system. The aim of this study was to investigate the association between lncRNA MALAT1 single nucleotide polymorphisms (SNPs) and T2DM in the Chinese Han population.
    METHODS: We genotyped three SNPs (rs3200401 C > T, rs619586 A > G, rs11227209 C > G) of the MALAT1 gene, including 571 T2DM patients and 526 controls. The association between different genotypes and the risk of T2DM was analyzed using logistic regression, and the results were expressed by odds ratio (OR) and its 95% confidence interval (95%CI), and then stratified by age, sex, and BMI. P < 0.05 on both sides was considered as statistically significant.
    RESULTS: We found that the CT + TT genotypes of the rs3200401 polymorphism were significantly associated with an increased risk of T2DM in Chinese Han population (OR = 1.77; 95% CI:1.35-2.33; Padjusted < 0.001), whereas MALAT1 rs619586 AG + GG genotypes were associated with a reduced risk of T2DM (OR = 0.67; 95% CI:0.48-0.94; Padjusted = 0.021). Subsequent stratified analysis showed that compared with the rs3200401 CC genotype, CT + TT genotypes were associated with an increased risk of T2DM in the male, female, age ≥ 65 years, and BMI ≥ 24 subgroups (OR = 1.68, 95% CI:1.10-2.56, Padjusted = 0.016; OR = 1.83, 95% CI:1.27-2.62, Padjusted = 0.001; OR = 1.86, 95% CI:1.38-2.52, Padjusted < 0.001; OR = 2.13, 95% CI:1.45-3.15, Padjusted < 0.001; respectively). Haplotype analysis showed that T-A-C haplotype had a 1.533-fold increased risk of T2DM (95% CI, 1.208-1.945, P < 0.001) and C-G-G was associated with a decreased risk of T2DM. No significant association was found between rs11227209 and T2DM risk (P > 0.05).
    CONCLUSIONS: The results suggest that MALAT1 rs619586 and rs3200401 confer susceptibility for T2DM in the Chinese Han population and provide new genetic targets for the treatment of diabetes and its complications in the future.
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