Clinicopathological Features

临床病理特征
  • 文章类型: Journal Article
    背景:肠道细菌与结直肠癌(CRC)及其临床病理特征有关。
    目的:开发肠道细菌亚型并探索CRC的潜在微生物靶标。
    方法:来自914名志愿者的粪便样本(376个CRC,363例晚期腺瘤,和175个正常对照)用于16SrRNA测序。无监督学习用于产生肠道微生物亚型。绘制了肠道细菌群落组成和聚类效应。分析了肠道细菌丰度的差异。然后,我们评估了CRC相关细菌与亚型的关联以及肠道细菌与临床信息的关联.构建基于肠道差异细菌的CatBoost模型以鉴定包括CRC和晚期腺瘤(AA)的疾病。
    结果:四种肠道微生物亚型(A,B,C,D)最终通过无监督学习获得。每个亚型的特征细菌均为A亚型中的大肠杆菌-志贺氏菌,B型链球菌,C亚型的Blautia,和D亚型中的拟杆菌临床信息(例如,游离脂肪酸和总胆固醇)和CRC病理信息(例如,肿瘤深度)在肠道微生物亚型之间变化。芽孢杆菌,乳酸杆菌,等。,与B亚型呈正相关。落叶松科,等。,与C亚型和科氏杆菌负相关,Coriobacteriales,等。,发现了D亚型。最后,基于肠道微生物亚型,提高了CatBoost模型对CRC鉴定的预测能力.
    结论:肠道微生物亚型提供了特征性的肠道细菌,有望有助于CRC的诊断。
    BACKGROUND: Gut bacteria are related to colorectal cancer (CRC) and its clinicopathologic characteristics.
    OBJECTIVE: To develop gut bacterial subtypes and explore potential microbial targets for CRC.
    METHODS: Stool samples from 914 volunteers (376 CRCs, 363 advanced adenomas, and 175 normal controls) were included for 16S rRNA sequencing. Unsupervised learning was used to generate gut microbial subtypes. Gut bacterial community composition and clustering effects were plotted. Differences of gut bacterial abundance were analyzed. Then, the association of CRC-associated bacteria with subtypes and the association of gut bacteria with clinical information were assessed. The CatBoost models based on gut differential bacteria were constructed to identify the diseases including CRC and advanced adenoma (AA).
    RESULTS: Four gut microbial subtypes (A, B, C, D) were finally obtained via unsupervised learning. The characteristic bacteria of each subtype were Escherichia-Shigella in subtype A, Streptococcus in subtype B, Blautia in subtype C, and Bacteroides in subtype D. Clinical information (e.g., free fatty acids and total cholesterol) and CRC pathological information (e.g., tumor depth) varied among gut microbial subtypes. Bacilli, Lactobacillales, etc., were positively correlated with subtype B. Positive correlation of Blautia, Lachnospiraceae, etc., with subtype C and negative correlation of Coriobacteriia, Coriobacteriales, etc., with subtype D were found. Finally, the predictive ability of CatBoost models for CRC identification was improved based on gut microbial subtypes.
    CONCLUSIONS: Gut microbial subtypes provide characteristic gut bacteria and are expected to contribute to the diagnosis of CRC.
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  • 文章类型: Journal Article
    目的:本荟萃分析的目的是研究肺癌中三级淋巴细胞浸润的临床病理和预后意义。
    方法:在许多数据库中进行了系统搜索,包括PubMed,WebofScience,科克伦图书馆,Embase,CNKI,Wangfangdate,和CBM,直到2024年1月。我们计算了危险比(HR),赔率比(OR),和置信区间(CI),并用Stata15软件完成了这项荟萃分析。
    结果:14项研究,包括3101名患者,进行了分析。高TLS检测与较长的OS相关(HR=0.545,95%CI:0.359-0.827,p=0.004),DFS(HR=0.431,95%CI:0.350-0.531,p<0.001),和RFS(HR=0.430,95%CI:0.325-0.569,p<0.001)。同时,据观察,TLS的检测结果与辅助化疗的给药显著相关(OR=1.505,95%CI:1.017-2.225,p=0.041).不仅如此,但与晚期N期(N=1,2和3)相比,早期N期(N=0)TLS检测显著升高的发生率更高(OR=1.604,95%CI:1.021-2.521,p=0.04).
    结论:已观察到TLS检测的提高与扩展OS相关,DFS,和RFS在肺癌病例中的应用。这一发现表明TLS可能作为肺癌的有价值的预后生物标志物。
    OBJECTIVE: The purpose of this meta-analysis was to examine the clinicopathological and prognostic significance of tertiary lymphocytic infiltrates in lung cancer.
    METHODS: A systematic search was performed in many databases, including PubMed, Web of Science, Cochrane Library, Embase, CNKI, Wangfangdate, and CBM, up until January 2024. We calculated the hazard ratio (HR), odds ratios (OR), and confidence interval (CI), and accomplished this meta-analysis with Stata 15 software.
    RESULTS: 14 studies, including 3101 patients, were subjected to analysis. High TLS detection was associated with a longer OS (HR = 0.545, 95% CI: 0.359-0.827, p = 0.004), DFS (HR = 0.431, 95% CI: 0.350-0.531, p < 0.001), and RFS (HR = 0.430, 95% CI: 0.325-0.569, p < 0.001). Meanwhile, it was observed that a higher detection of TLS was significantly correlated with the administration of adjuvant chemotherapy (OR = 1.505, 95% CI: 1.017-2.225, p = 0.041). Not only that, but there was a higher occurrence of significantly elevated TLS detection in the early N stages (N = 0) compared to the advanced N stages (N = 1, 2, and 3) (OR = 1.604, 95% CI: 1.021-2.521, p = 0.04).
    CONCLUSIONS: Elevated detection of TLS has been observed to be correlated with extended OS, DFS, and RFS in cases of lung cancer. This finding suggests that TLS could potentially serve as a valuable prognostic biomarker for lung cancer.
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  • 文章类型: Journal Article
    本研究旨在探讨酰基辅酶A硫酯酶8(ACOT8)在乳腺癌中的表达及其与临床病理特征的关系。患者生存,和免疫浸润。
    我们对不同癌症类型的ACOT8mRNA差异表达进行了综合分析,其次是生存分析。我们专注于BC,使用在线数据库在mRNA和蛋白质水平评估ACOT8表达,qRT-PCR,和免疫组织化学。使用不同的数据库评估ACOT8表达与临床病理参数之间的关联。此外,我们通过分析各种队列和数据库,调查了ACOT8在BC患者中的预后意义.此外,我们预测了一个潜在的信号通路,并确定miR-1-3p可能是ACOT8的上游调节因子.最后,ACOT8与免疫系统浸润的关系,以及免疫检查点分子,被检查过。
    我们的发现表明BC中ACOT8mRNA和蛋白水平上调。ACOT8表达升高与各种临床病理特征呈正相关,提示患者预后不良。功能富集分析表明ACOT8参与脂质代谢,线粒体成分,和核糖体功能。此外,我们确定了ACOT8和免疫系统标记之间的联系,免疫细胞浸润,和免疫检查点。
    本研究为BC中ACOT8上调及其与临床病理特征和患者预后的关联提供了令人信服的证据。此外,我们的研究结果表明,靶向ACOT8和免疫检查点可能会增强BC患者免疫治疗的有效性.
    UNASSIGNED: This study aimed to investigate the expression of Acyl-CoA thioesterase 8 (ACOT8) in breast cancer (BC) and its association with clinicopathological characteristics, patient survival, and immune infiltration.
    UNASSIGNED: We conducted a comprehensive analysis of ACOT8 mRNA differential expression across various cancer types, followed by survival analysis. We focused on BC, where ACOT8 expression was evaluated at both the mRNA and protein levels using online databases, qRT-PCR, and immunohistochemistry. Associations between ACOT8 expression and clinicopathological parameters were assessed using different databases. Additionally, we investigated the prognostic significance of ACOT8 in BC patients by analyzing various cohorts and databases. Furthermore, we predicted a potential signaling pathway and identified miR-1-3p as a possible upstream regulator of ACOT8. Finally, the relationship between ACOT8 and immune system infiltration, as well as immune checkpoint molecules, was examined.
    UNASSIGNED: Our findings demonstrated upregulated ACOT8 mRNA and protein levels in BC. Elevated ACOT8 expression correlated positively with various clinicopathological characteristics, indicating an unfavorable prognosis for patients. Functional enrichment analysis suggested ACOT8 involvement in lipid metabolism, mitochondrial components, and ribosomal functions. Moreover, we identified connections between ACOT8 and immune system markers, immune cell infiltration, and immune checkpoints.
    UNASSIGNED: This study provides compelling evidence for ACOT8 upregulation in BC and its association with clinicopathological features and patient outcomes. Additionally, our findings suggest that targeting ACOT8 and immune checkpoints might enhance the effectiveness of immunotherapy in BC patients.
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  • 文章类型: Journal Article
    背景:胃肝样腺癌(HAS)是一种极为罕见且独特的恶性胃肿瘤,其预后比非胃肝样腺癌(非HAS)差。本研究探讨了HAS和非HAS患者的临床病理特征,以提供对HAS治疗策略的见解。
    方法:从2023年12月26日起,我们对PubMed进行了全面搜索,WebofScience,科克伦图书馆,和相关研究的Embase.com数据库。两位作者独立筛选了这些研究,评估他们的质量,提取的数据,并进行了分析。本研究于2024年1月2日在PROSPERO注册。
    结果:在筛选833篇文章后,纳入了9项回顾性研究进行分析。HAS和非HAS组共有350和924名患者入组,分别。虽然在年龄上没有观察到显著差异,性别,肿瘤大小,T3或T4阶段,两组之间的N2或N3阶段,HAS组淋巴结转移率较高(OR=1.93,95%CI:1.19-3.13,p=0.007),肝转移(OR=3.45,95%CI:2.26-5.28,p<0.001),血管侵犯(OR=2.76,95%CI:2.05-3.71,p<0.001)。此外,HAS组的3年生存率(HR=2.35,95%CI:1.70-3.25,p<0.001)和5年生存率(HR=3.63,95%CI:1.49-8.88,p=0.005)较低,但较低的淋巴透过率(OR=0.68,95%CI:0.47-0.99,p=0.040)。
    结论:根据目前的临床证据,HAS患者具有明显的临床病理特征,更大的侵入性,与非HAS患者相比,预后较差。需要进一步的研究来制定HAS的最佳治疗策略。
    BACKGROUND: Hepatoid adenocarcinoma of the stomach (HAS) is an extremely rare and unique malignant gastric tumor with a significantly worse prognosis than non-hepatoid adenocarcinoma of the stomach (non-HAS). The present study explored the clinicopathological features of HAS and non-HAS patients to provide insights into HAS treatment strategies.
    METHODS: From December 26, 2023, we performed a comprehensive search of the PubMed, Web of Science, Cochrane Library, and Embase.com databases for relevant studies. Two authors independently screened the studies, evaluated their quality, extracted data, and performed the analyses. This study was registered with PROSPERO on January 2, 2024.
    RESULTS: Nine retrospective studies were included for analysis after screening 833 articles. A total of 350 and 924 patients were enrolled in the HAS and non-HAS groups, respectively. While no significant differences were observed in age, sex, tumor size, T3 or T4 stage, and N2 or N3 stage between the two groups, the HAS group exhibited higher rates of lymph node metastasis (OR = 1.93, 95% CI: 1.19-3.13, p = 0.007), liver metastasis (OR = 3.45, 95% CI: 2.26-5.28, p < 0.001), and vascular invasion (OR = 2.76, 95% CI: 2.05-3.71, p < 0.001). Additionally, the HAS group had lower 3-year survival rates (HR = 2.35, 95% CI: 1.70-3.25, p < 0.001) and 5-year survival rates (HR = 3.63, 95% CI: 1.49-8.88, p = 0.005), but lower rates of lymphatic permeation (OR = 0.68, 95% CI: 0.47-0.99, p = 0.040).
    CONCLUSIONS: Based on the current clinical evidence, patients with HAS present distinct clinicopathological features, greater invasiveness, and poorer prognosis than non-HAS patients. Further research is warranted to develop optimal treatment strategies for HAS.
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  • 文章类型: Journal Article
    尽管有证据表明丙酮酸激酶肌肉同工酶(PKM)在癌症发展中具有重要作用,其在结直肠癌(CRC)中的特殊功能尚不清楚.本研究旨在阐明PKM及其亚型的具体作用和作用机制,PKM1和PKM2在CRC进展中的作用。
    我们分析了PKM,PKM1和PKM2在CRC组织中的表达及其与临床病理特征的相关性。构建质粒以调节CRC细胞中这些同工型的表达。细胞行为改变,包括葡萄糖代谢改变,使用海马能量计进行评估,和细胞计数试剂盒-8(CCK8)测定以确定5-氟尿嘧啶(5-FU)对不同CRC细胞组的抑制浓度。
    我们的结果显示在CRC组织中显著的PKM过表达,与晚期T分期和淋巴结转移等不良预后因素相关。较低的PKM1/PKM2比值与这些不良后果相关。功能上,PKM1过表达降低细胞迁移和侵袭,增加5-FU灵敏度。相反,PKM2过表达促进恶性性状并降低5-FU敏感性。有趣的是,糖酵解抑制剂的引入减弱了PKM对CRC细胞生物学功能的影响,提示糖酵解依赖性机制。
    本研究确定PKM1/PKM2比值在CRC进展和5-FU反应中至关重要。PKM1过表达降低CRC恶性程度并增加5-FU敏感性,而PKM2则相反。值得注意的是,糖酵解抑制剂减轻PKM对CRC细胞的影响,强调糖酵解依赖机制。这些见解表明,靶向PKM亚型和糖酵解途径是一种有前途的CRC治疗策略,有可能增强治疗效果。
    UNASSIGNED: Despite evidence suggesting a significant role of pyruvate kinase muscle isozyme (PKM) in cancer development, its particular function in colorectal cancer (CRC) remains unclear. This study aimed to elucidate the specific role and mechanism of PKM and its isoforms, PKM1 and PKM2, in the progression of CRC.
    UNASSIGNED: We analyzed PKM, PKM1, and PKM2 expression in CRC tissues and their correlation with clinicopathological features. Plasmids were constructed to modulate these isoforms\' expression in CRC cells. Cellular behavior changes, including glucose metabolism alterations, were assessed using the Seahorse Energy Meter, and the Cell Counting Kit-8 (CCK8) assay to determine the inhibitory concentration of 5-fluorouracil (5-FU) on different CRC cell groups.
    UNASSIGNED: Our results showed significant PKM overexpression in CRC tissues, which was correlated with negative prognostic factors such as advanced T stages and lymph node metastasis. A lower PKM1/PKM2 ratio was associated with these adverse outcomes. Functionally, PKM1 overexpression decreased cell migration and invasion, increasing 5-FU sensitivity. Conversely, PKM2 overexpression promoted malignant traits and reduced 5-FU sensitivity. Intriguingly, the introduction of glycolysis inhibitors attenuated the impact of PKM on the biological functions of CRC cells, suggesting a glycolysis-dependent mechanism.
    UNASSIGNED: This study establishes the PKM1/PKM2 ratio as crucial in CRC progression and 5-FU response. PKM1 overexpression reduces CRC malignancy and increases 5-FU sensitivity, while PKM2 does the opposite. Notably, glycolysis inhibitors lessen PKM\'s impact on CRC cells, highlighting a glycolysis-dependent mechanism. These insights suggest targeting PKM isoforms and glycolysis pathways as a promising CRC therapeutic strategy, potentially enhancing treatment efficacy.
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    文章类型: English Abstract
    目的:分析临床病理特征,肾上腺皮质癌合并静脉癌栓的预后价值及外科治疗经验.
    方法:收集2018-2023年北京大学第三医院手术治疗的肾上腺皮质癌患者的相关资料。将患者分为静脉癌栓组和非癌栓组。使用Wilcoxon秩和检验来比较定量变量。卡方检验和Fisher精确检验用于比较分类变量。采用Kaplan-Meier法估计生存率。
    结果:共纳入27例肾上腺皮质癌患者,其中11例(40.7%)有静脉癌栓。在静脉肿瘤血栓患者中,8例患者为女性,3例为男性。中位年龄为49(36,58)岁。中位体重指数为26.0(24.1,30.4)kg/m2。七名患者在初次就诊时出现症状。6例患者有高血压病史。2例患者皮质醇水平升高。在左侧发现了三个肿瘤,在右侧发现了8个.肿瘤直径中位数为9.4(6.5,12.5)cm。在左边,有一例肿瘤血栓局限于左肾上腺中央静脉,未侵入左肾静脉,两例肿瘤血栓生长延伸到肝脏下方的下腔静脉。1例右肾上腺中央静脉癌栓未侵入下腔静脉。4例瘤栓侵入肝下下腔静脉,3例扩展到肝后部。欧洲肾上腺肿瘤研究网络(ENSAT)Ⅲ期患者10例,ENSATⅣ期患者1例。开放手术6例,单纯腹腔镜手术4例,机器人辅助腹腔镜手术1例。两名患者接受了同侧肾切除术。中位手术时间为332(261,440)分钟。术中出血中位数为900(700,2200)mL。中位住院时间为9(5,10)天。癌栓患者的中位生存时间为24.0个月,中位复发时间为7.0个月。16例无瘤栓患者的中位生存期和复发时间均未达到。癌栓患者的3年总生存率(OS)较差(40.9%vs.71.4%;Log-rank,P=0.038)和2年无复发生存率(RFS)(9.1%vs.53.7%;Log-rank,P=0.015)与非肿瘤血栓患者相比。
    结论:肾上腺皮质癌伴静脉癌栓患者预后较差。根据不同的肿瘤血栓位置,不同的肾上腺肿瘤切除和静脉肿瘤血栓清除方法治疗本病是安全有效的。
    OBJECTIVE: To analyze the clinicopathological features, prognostic value and surgical treatment experience in patients with adrenocortical carcinoma with venous tumor thrombus.
    METHODS: We collected relevant data of the patients with adrenocortical carcinoma who had undergone surgery in Peking University Third Hospital from 2018 to 2023. The patients were divided into venous tumor thrombus group and non-tumor thrombus group. The Wilcoxon rank sum test was used to compare the quantitative variables. The chi-squared test and Fisher\'s exact test were used to compare the categorical variables. The Kaplan-Meier method was used to estimate the survival rate.
    RESULTS: A total of 27 patients with adrenocortical carcinoma were included, of whom 11 cases (40.7%) had venous tumor thrombus. In the patients with venous tumor thrombus, 8 patients were female and 3 were male. The median age was 49 (36, 58) years. The median body mass index was 26.0 (24.1, 30.4) kg/m2. Seven patients presented with symptoms at their initial visit. Six patients had a history of hypertension. Elevated levels of cortisol were observed in 2 cases. Three tumors were found on the left side, while 8 were found on the right side. Median tumor diameter was 9.4 (6.5, 12.5) cm. On the left, there was a case of tumor thrombus limited to the central vein of the left adrenal gland without invasion into the left renal vein, and two cases of tumor thrombus growth extending into the inferior vena cava below the liver. One case of tumor thrombus on the right adrenal central vein did not invade the inferior vena cava. Four cases of tumor thrombus invaded the inferior vena cava below the liver and three cases extended to the posterior of the liver. Ten patients were in European Network for the Study of Adrenal Tumors (ENSAT) stage Ⅲ and one was in ENSAT stage Ⅳ. Open surgery was performed in 6 cases, laparoscopic surgery alone in 4 cases and robot-assisted laparoscopic surgery in 1 case. Two patients underwent ipsilateral kidney resection. Median operative time was 332 (261, 440) min. Median intraoperative bleeding was 900 (700, 2 200) mL. Median hospital stay was 9 (5, 10) days. Median survival time for the patients with tumor thrombus was 24.0 months and median time to recurrence was 7.0 months. The median survival and recurrence time of 16 patients without tumor thrombus were not reached. The patients with tumor thrombus had worse 3-year overall survival (OS) rate (40.9% vs. 71.4%; Log-rank, P=0.038) and 2-year recurrence-free survival (RFS) (9.1% vs.53.7%; Log-rank, P=0.015) rates compared with the patients with non-tumor thrombus.
    CONCLUSIONS: Patients with adrenocortical carcinoma with venous tumor thrombus have poor prognosis. Different adrenal tumor resections and venous tumor thrombus removal procedures based on different tumor thrombus locations are safe and effective in treating this disease.
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  • 文章类型: Journal Article
    驱动蛋白家族蛋白2A(KIF2A)是一种微管解聚酶,参与各种癌症的进展;然而,其在子宫内膜癌(EC)中的临床应用尚不清楚。本研究的目的是评估KIF2A的表达及其与EC患者预后的关系。对230例接受肿瘤切除术的EC患者的数据进行了回顾,回顾性研究。使用免疫组织化学(IHC)在肿瘤组织的230份福尔马林固定石蜡包埋(FFPE)标本和非肿瘤组织的50份FFPE标本中测量KIF2A表达。KIF2A在EC肿瘤组织中表达升高与非肿瘤组织(P<0.001)。此外,肿瘤KIF2A表达与淋巴管浸润(P=0.004)和国际妇产科联合会(FIGO)分期(P=0.001)相关。高肿瘤KIF2A表达(IHC评分>3)与较短的无病生存期(DFS;P=0.014)和总生存期(OS;P=0.012)相关。此外,时间依赖性受试者工作特征曲线显示,肿瘤KIF2A表达在6年内每个时间点的复发和死亡风险评估中具有可接受的用途。曲线下的每个面积保持稳定在≥0.7。值得注意的是,肿瘤KIF2A表达(高vs.低)独立预测较短的DFS(危险比,2.506;P=0.013),而非OS(P>0.05)。此外,来自人类蛋白质图谱数据库的信息表明,高肿瘤KIF2A表达与EC患者的OS恶化相关(P=0.027)。肿瘤KIF2A不仅与淋巴管浸润和较高的FIGO分期有关,但也反映了EC患者的不良生存率。
    Kinesin family protein 2A (KIF2A) is a microtubule depolymerase that participates in the progression of various cancers; however, its clinical utility in endometrial carcinoma (EC) remains unclear. The aim of the present study was to assess KIF2A expression and its relationship with prognosis in patients with EC. Data from 230 patients with EC who underwent tumor resection were reviewed in the current, retrospective study. KIF2A expression was measured in 230 formalin-fixed paraffin-embedded (FFPE) specimens of tumor tissue and 50 FFPE specimens of non-tumor tissue using immunohistochemistry (IHC). KIF2A expression was elevated in EC tumor tissue vs. non-tumor tissue (P<0.001). Furthermore, tumor KIF2A expression was linked with lymphovascular invasion (P=0.004) and higher International Federation of Gynecology and Obstetrics (FIGO) stage (P=0.001). High tumor KIF2A expression (IHC score>3) was correlated with shorter disease-free survival (DFS; P=0.014) and overall survival (OS; P=0.012). Moreover, the time-dependent receiver operating characteristic curves revealed that tumor KIF2A expression had an acceptable use for estimating the relapse and death risks at each timepoint within 6 years, with each area under the curve remaining stable at ≥0.7. Notably, tumor KIF2A expression (high vs. low) independently forecast shorter DFS (hazard ratio, 2.506; P=0.013), but not OS (P>0.05). Furthermore, information from The Human Protein Atlas database indicated that high tumor KIF2A expression was associated with worse OS in patients with EC (P=0.027). Tumor KIF2A is not only associated with lymphovascular invasion and higher FIGO stage, but also reflects unfavorable survival in patients with EC.
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  • 文章类型: Journal Article
    驱动基因是靶向治疗功效的重要预测因子。检测肺腺癌(LUAD)患者的驱动基因突变可以帮助筛选靶向药物并提高患者的生存效益。本研究旨在探讨LUAD中驱动基因的突变特征及其与临床病理特征的相关性。
    在2019年7月至2022年9月期间,共从邵逸夫爵士医院选择了440名LUAD患者。使用下一代测序技术分析术后组织标本的基因突变,聚焦,包括表皮生长因子受体EGFR,ALK,ROS1,RET,KRAS,MET,BRAF,HER2、PIK3CA和NRAS。同时,收集并整理临床病理资料进行多维相关分析.
    440名LUAD患者,48例患者未检测到驱动基因突变.驱动基因突变的患者比例高达89.09%。前三个驱动基因突变是EGFR,KRAS,和MET。共检测到69种类型的EGFR突变,并分布在蛋白酪氨酸激酶催化域(56,81.16%),富弗林蛋白酶样半胱氨酸区(9,13.04%),受体结合域(3,4.35%),和EGFR跨膜结构域(1,1.45%)。343例LUAD患者发生单基因位点突变,但是突变基因类型涵盖了所有测试基因。我们的研究结果表明,EGFR突变更常见于非吸烟和女性患者(P<0.01)。KRAS突变在男性患者和吸烟者中更为普遍(P<0.01)。ROS1突变的肿瘤直径较大(P<0.01),RET突变在吸烟者中更为普遍(P<0.05)。
    LUAD患者表现出不同的基因突变,这可能同时发生。多种突变的综合分析对于疾病的准确诊断和有效治疗至关重要。使用NGS可以大大扩展我们对基因突变的理解,并促进对多个基因突变的综合分析,为有针对性的治疗方法提供关键证据。
    UNASSIGNED: Driver genes are essential predictors of targeted therapeutic efficacy. Detecting driver gene mutations in lung adenocarcinoma (LUAD) patients can help to screen for targeted drugs and improve patient survival benefits. This study aims to investigate the mutation characterization of driver genes and their correlation with clinicopathological features in LUAD.
    UNASSIGNED: A total of 440 LUAD patients were selected from Sir Run Run Shaw Hospital between July 2019 and September 2022. Postoperative tissue specimens were analyzed for gene mutations using next-generation sequencing technology, focusing, including epidermal growth factor receptor EGFR, ALK, ROS1, RET, KRAS, MET, BRAF, HER2, PIK3CA and NRAS. At the same time, clinicopathological data were collected and organized for multidimensional correlation analysis.
    UNASSIGNED: Of 440 LUAD patients, driver gene mutations were not detected in 48 patients. The proportion of patients with driver gene mutations was as high as 89.09%. The top three driver genetic mutations were EGFR, KRAS, and MET. Sixty-nine types of EGFR mutations were detected and distributed in the protein tyrosine kinase catalytic domain (56, 81.16%), Furin-like cysteine-rich region (9, 13.04%), receptor binding domain (3, 4.35%), and EGFR transmembrane domain (1, 1.45%). Single gene locus mutation occurred in 343 LUAD patients, but the mutation gene types covered all tested genes. Our findings showed that EGFR mutations were more commonly observed in non-smoking and female patients (P<0.01), KRAS mutations were more prevalent in male patients and smokers (P<0.01), ROS1 mutations had larger tumor diameters (P<0.01) and RET mutations were more prevalent in smokers (P<0.05).
    UNASSIGNED: LUAD patients exhibit diverse genetic mutations, which may co-occur simultaneously. Integrated analysis of multiple mutations is essential for accurate diagnosis and effective treatment of the disease. The use of NGS can significantly expand our understanding of gene mutations and facilitate integrated analysis of multiple gene mutations, providing critical evidence for targeted treatment methods.
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  • 文章类型: Journal Article
    背景:脑包虫病相对罕见,在病理诊断方面,区分脑囊型包虫病(CCE)和脑肺泡型包虫病(CAE)很重要。我们旨在描述CCE和CAE患者的不同临床病理特征。
    方法:收集2012年1月1日至2023年6月30日新疆医科大学第一附属医院病理科确诊的脑包虫病患者27例。我们比较了患者的临床特征,MRI特征,CCE和CAE的病理表现。
    结果:在27例脑包虫病中,CAE23例,CCE4例。CCE和CAE患者的临床表现主要包括头痛(21例,77.78%),肢体运动障碍(6例,22.22%),癫痫发作(4例,14.81%)和视觉障碍(2例,7.41%)。CAE病例的平均发病年龄为34.96±11.11岁,CCE病例为9.00±7.26年。所有CAE患者均在大脑和颅外器官中表现出多种受累,而所有CCE患者均在大脑中观察到孤立性病变,而3例CCE病例没有颅外受累。MRI中CCE的病变显示为单个孤立的圆形,与周围组织的界限很好,病变周围没有明显的水肿,而CAE病变表现为颅内多发病变,病变周围边缘模糊和水肿,在病变中可以观察到多个小囊泡。CAE病灶边缘可增强,CCE病灶无明显强化。CCE病灶为透明囊肿,壁约0.1cm。微观上,囊肿壁以嗜酸性角质层为特征,一侧是嗜碱性胚层细胞,有时可见为原脑结节。虽然CAE病变是结节表面粗糙且不均匀的结节结构,切开的切片是囊性和实性的;显微镜下,CAE病变有凝固性坏死区域,而原头淋巴结几乎看不见.由巨噬细胞组成的炎症细胞区域,淋巴细胞,上皮样细胞,浆细胞,嗜酸性粒细胞,在病变周围可以看到成纤维细胞。炎症细胞区域附近的脑组织可能显示细胞凋亡,变性,坏死,和细胞水肿,而离病变稍远一点的脑组织显示出正常的形态。
    结论:脑包虫病的发病率较低,对于病理学家来说,包虫病的诊断以及CAE和CCE的鉴别诊断具有挑战性.掌握CAE和CCE的不同临床病理特征有助于病理学家做出准确的诊断。
    BACKGROUND: Cerebral echinococcosis is relatively rare, and it is important to distinguish cerebral cystic echinococcosis (CCE) from cerebral alveolar echinococcosis (CAE) in terms of pathological diagnosis. We aim to describe the different clinicopathological features among patients with CCE and CAE.
    METHODS: We collected 27 cases of cerebral echinococcosis which were diagnosed in the Department of Pathology of the First Affiliated Hospital of Xinjiang Medical University from January 1, 2012, to June 30, 2023. We compared the patients\' clinical characteristics, MRI features, and pathologic manifestations of CCE and CAE.
    RESULTS: Among 27 cases of cerebral echinococcosis, 23 cases were CAE and 4 cases were CCE. The clinical manifestations of both CCE and CAE patients mainly included headache (21 patients, 77.78%), limb movement disorders (6 patients, 22.22%), epileptic seizures (4 patients, 14.81%) and visual disturbances (2 patients, 7.41%). The average onset age of CAE cases was 34.96 ± 11.11 years, which was 9.00 ± 7.26 years in CCE cases. All CAE patients presented with multiple involvements in the brain and extracranial organs while all CCE patients observed a solitary lesion in the brain and 3 CCE cases had no extracranial involvement. Lesions of CCE in MRI showed a single isolated circular, which was well demarcated from the surrounding tissues and with no obvious edema around the lesions, whereas CAE lesions presented as multiple intracranial lesions, with blurred edges and edema around the lesions, and multiple small vesicles could be observed in the lesions. The edge of CAE lesions could be enhanced, while CCE lesions have no obvious enhancement. CCE foci were clear cysts with a wall of about 0.1 cm. Microscopically, the walls of the cysts were characterized by an eosinophilic keratin layer, which was flanked on one side by basophilic germinal lamina cells, which were sometimes visible as protocephalic nodes. While the CAE lesion was a nodular structure with a rough and uneven nodule surface, and the cut section was cystic and solid; microscopically, the CAE lesion had areas of coagulative necrosis, and the proto-cephalic nodes were barely visible. Inflammatory cell areas consisting of macrophages, lymphocytes, epithelioid cells, plasma cells, eosinophils, and fibroblasts can be seen around the lesion. Brain tissues in the vicinity of the inflammatory cell areas may show apoptosis, degeneration, necrosis, and cellular edema, while brain tissues a little farther away from the lesion show a normal morphology.
    CONCLUSIONS: With the low incidence of brain echinococcosis, the diagnosis of echinococcosis and the differential diagnosis of CAE and CCE are challenging for pathologists. Grasping the different clinical pathology characteristics of CAE and CCE is helpful for pathologists to make accurate diagnoses.
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  • 文章类型: Journal Article
    目的:肺乳头状腺瘤是一种极其罕见的良性肿瘤。它来自II型肺细胞和俱乐部细胞,这表明它可能来源于双向分化的干细胞。仅报道一例FGFR2-IIIb过表达。
    方法:2例肺乳头状腺瘤,有临床资料,组织学形态学,分析免疫表型和分子特征。
    结果:两种肿瘤均为未包囊结节,由乳头状结构组成,纤维血管核内衬单层长方体或柱状上皮,无坏死,核异型和有丝分裂,或入侵。但是恶性转化特征包括复杂的分支结构和明显扩大,不规则,在一个案例中,拥挤的恶性细胞。免疫组化显示肿瘤细胞TTF1、NapsinA强阳性,EMA和CK7,CEA和P63阴性,Ki-67增殖指数较低。EGFR体细胞突变exon19:c.2236_2256delinsATC(p。通过下一代测序(NGS)技术在一例中发现了E746_S752delinsI)。
    结论:肺乳头状腺瘤非常罕见。实际上,所有乳头状腺瘤在临床上都是沉默的,并且是偶然发现的。它们是良性肿瘤,切除是治愈性的。NGS首次检测到该类型肿瘤患者的EGFR19外显子缺失突变,我们的结果提示肺乳头状腺瘤的恶性转化可能是由EGFR突变介导的。
    OBJECTIVE: Pulmonary papillary adenoma is an extremely rare benign tumor. It is derived from type II lung cells and club cells, suggesting that it may originate from stem cells with two-way differentiation. Only one case has been reported with FGFR2-IIIb overexpression.
    METHODS: Two cases of pulmonary papillary adenoma with available data on clinical features, histological morphology, immunophenotype and molecular characteristics were analyzed.
    RESULTS: Both tumors were well-circumscribed unencapsulated nodules composed of papillary structures with fibrovascular cores lined by a single layer of cuboidal or columnar epithelium without necrosis, nuclear atypia and mitoses, or invasion. But malignant transformation features include complex branching structures and significantly enlarged, irregular, and crowded malignant cells in one case. Immunohistochemistry showed that the tumor cells were strongly positive for TTF1, NapsinA, EMA and CK7 and negative for CEA and P63, with a low Ki-67 proliferation index. The EGFR somatic mutation exon19:c.2236_2256delinsATC (p.E746_S752delinsI) was found in one case by next-generation sequencing (NGS) technology.
    CONCLUSIONS: Pulmonary papillary adenoma is very rare. Virtually all papillary adenomas are clinically silent and discovered incidentally. They are benign tumors, and resection is curative. An EGFR 19 exon deletion mutation in a patient with this tumor type was detected for the first time by NGS, and our results suggest that the malignant transformation of pulmonary papillary adenoma may be mediated by EGFR mutation.
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