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Three novel rare TP53 fusion mutations in a patient with multiple primary cancers: a case report 一名多原发性癌症患者的三种新型罕见 TP53 融合突变:病例报告
Pub Date : 2024-01-08 DOI: 10.1097/ot9.0000000000000024
Mengyao Lu, Xuemei Zhang, Qian Chu, Yuan Chen, Peng Zhang
As survival rates improve and detection technologies advance, the occurrence of multiple primary cancers (MPCs) has been increasing. Approximately 16% of cancer survivors develop a subsequent malignancy, with lung cancer often developing after esophageal cancer due to potential “field cancerization” effects. Despite this observation, the genetic heterogeneity underlying MPCs remains understudied. However, the recent emergence of genetic testing has expanded the scope of investigations into MPCs to investigate signatures underlying cancer predisposition. This report reveals 3 unprecedented TP53 fusion mutations in a Chinese patient afflicted by MPCs, namely, AP1M2–TP53 (A1;T11) fusion, TP53–ILF3 (T10;I13) fusion, and SLC44A2–TP53 (S5;T11) fusion. This patient exhibited an extended period of survival after diagnosis of extensive-stage small cell lung cancer, which occurred 6 years after the diagnosis of esophageal squamous cell cancer. This unique report may provide supplementary data that enhance our understanding of the genetic landscape of MPCs.
随着生存率的提高和检测技术的进步,多发性原发性癌症(MPC)的发生率也在不断上升。约有 16% 的癌症幸存者会罹患后续恶性肿瘤,由于潜在的 "现场癌化 "效应,肺癌通常会在食道癌之后发生。尽管观察到了这一现象,但 MPCs 的遗传异质性仍未得到充分研究。不过,最近出现的基因检测扩大了对 MPCs 的研究范围,以调查癌症易感性的基本特征。本报告揭示了一名中国多发性骨髓瘤患者的三种前所未有的TP53融合突变,即AP1M2-TP53 (A1;T11)融合、TP53-ILF3 (T10;I13)融合和SLC44A2-TP53 (S5;T11)融合。该患者在确诊食管鳞状细胞癌 6 年后又被确诊为广泛期小细胞肺癌,并延长了生存期。这份独特的报告可提供补充数据,加深我们对 MPC 遗传结构的了解。
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引用次数: 0
Research progress on lung cancer stem cells in epidermal growth factor receptor–tyrosine kinase inhibitor targeted therapy resistance in lung adenocarcinoma 表皮生长因子受体-酪氨酸激酶抑制剂靶向治疗肺腺癌耐药性中的肺癌干细胞研究进展
Pub Date : 2024-01-04 DOI: 10.1097/ot9.0000000000000028
Hong Zhang, Yanbin Wang, Xianglin Yuan, Yanmei Zou, Hua Xiong
Lung cancer is the leading cause of cancer-related deaths globally. In recent years, with the widespread use of genetic testing, epidermal growth factor receptor–tyrosine kinase inhibitor (EGFR-TKI)–targeted drugs have been efficacious to patients with lung adenocarcinoma exhibiting EGFR mutations. However, resistance to treatment is inevitable and eventually leads to tumor progression, recurrence, and reduction in the overall treatment efficacy. Lung cancer stem cells play a crucial role in the development of resistance toward EGFR-TKI–targeted therapy for lung adenocarcinoma. Lung cancer stem cells possess self-renewal, multilineage differentiation, and unlimited proliferation capabilities, which efficiently contribute to tumor formation and ultimately lead to tumor recurrence and metastasis. In this study, we evaluated the origin, markers, stemness index, relevant classic studies, resistance mechanisms, related signaling pathways, and strategies for reversing lung cancer stem cell resistance to EGFR-TKIs to provide new insights on delaying or reducing resistance and to improve the treatment efficacy of patients with EGFR-mutated lung adenocarcinoma in the future.
肺癌是全球癌症相关死亡的首要原因。近年来,随着基因检测的广泛应用,表皮生长因子受体-酪氨酸激酶抑制剂(EGFR-TKI)靶向药物对表皮生长因子受体突变的肺腺癌患者产生了疗效。然而,耐药性是不可避免的,最终会导致肿瘤进展、复发和整体疗效下降。肺癌干细胞在肺腺癌表皮生长因子受体-TKI靶向治疗的耐药性发展过程中起着至关重要的作用。肺癌干细胞具有自我更新、多系分化和无限增殖能力,能有效促进肿瘤形成,并最终导致肿瘤复发和转移。本研究对肺癌干细胞的起源、标志物、干性指数、相关经典研究、耐药机制、相关信号通路以及逆转肺癌干细胞对EGFR-TKIs耐药的策略进行了评估,以期为延缓或降低耐药提供新的见解,并在未来提高EGFR突变肺腺癌患者的治疗效果。
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引用次数: 0
Analysis of EGFR Gene Mutations in Lung Adenocarcinoma in Karamay, Xinjiang 新疆克拉玛依肺腺癌表皮生长因子受体基因突变分析
Pub Date : 2023-12-22 DOI: 10.1097/ot9.0000000000000007
Yuhua Ma, Yuanxin Li, Min Jiang, Jing Gao, Yining Lai, Kamila Kulaixijiang, Min Zhu, Fei Liang
To investigate the mutation types and mutation rate of the epidermal growth factor receptor (EGFR) gene in patients with lung adenocarcinoma and the clinical features of lung adenocarcinoma with EGFR gene mutations in Karamay, Xinjiang, China. Paraffin-embedded tissue samples of adenocarcinoma patients were collected in the Karamay Central Hospital from March 2016 to June 2019, and mutations in exon 18–21 of the EGFR gene were detected by the allele-specific amplification polymerase chain reaction (Amplification Refractory Mutation System–PCR) method. The relationships between the mutation types, mutation incidence, and clinical features were analyzed. Of the 170 patients with lung adenocarcinoma, 83 had EGFR mutations. The total mutation rate of EGFR in patients with lung adenocarcinoma was 48.8%, which included mutations in exons 18 (1.2% [2/170]), 19 (19.4% [33/170]), 20 (2.4% [4/170]), and 21 (20.6% [35/170]). Intriguingly, there was a case with 9 mutations in exons 20 and 21. The mutations in exon 19 of EGFR resulted in the deletion of codons 746 to 750. The main mutation in exon 21 was L858R (91.4% [32/35]). There was no significant difference in exons 19 and 21 mutation rates (P > 0.05). The mutation rate of EGFR in female patients was significantly higher than that in male patients (P < 0.05) but had no correlation with the age, smoking status, and clinical stage of patients with non–small cell lung cancer (P > 0.05). The EGFR mutation rate may be related to the degree of tumor differentiation. Among patients with lung adenocarcinoma in Kelamayi (city in Xinjiang), EGFR mutations were more frequently detected in female patients, and the main sites of mutations were exons 19 and 21.
目的 探讨中国新疆克拉玛依肺腺癌患者表皮生长因子受体(EGFR)基因的突变类型和突变率,以及EGFR基因突变肺腺癌的临床特征。 2016年3月至2019年6月在克拉玛依市中心医院采集腺癌患者石蜡包埋组织样本,采用等位基因特异性扩增聚合酶链反应(扩增难治性突变系统-PCR)方法检测EGFR基因18-21外显子突变。分析了突变类型、突变发生率和临床特征之间的关系。 在170例肺腺癌患者中,有83例发生了表皮生长因子受体突变。肺腺癌患者的表皮生长因子受体总突变率为48.8%,其中包括18号外显子突变(1.2% [2/170])、19号外显子突变(19.4% [33/170])、20号外显子突变(2.4% [4/170])和21号外显子突变(20.6% [35/170])。耐人寻味的是,有一个病例的第 20 和 21 号外显子出现了 9 个突变。表皮生长因子受体 19 号外显子的突变导致 746 至 750 号密码子缺失。第 21 号外显子的主要突变是 L858R(91.4% [32/35])。第 19 和 21 号外显子的突变率无明显差异(P > 0.05)。女性患者的表皮生长因子受体突变率明显高于男性患者(P < 0.05),但与非小细胞肺癌患者的年龄、吸烟状况和临床分期无相关性(P > 0.05)。表皮生长因子受体突变率可能与肿瘤的分化程度有关。 在新疆克拉玛依市的肺腺癌患者中,女性患者的表皮生长因子受体(EGFR)突变率较高,突变的主要位点是第19和21号外显子。
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引用次数: 0
Controversies and future directions in the management of gallbladder cancer 胆囊癌治疗的争议和未来方向
Pub Date : 2023-12-22 DOI: 10.1097/ot9.0000000000000003
J. Lendoire, L. Gil
Gallbladder cancer (GBC) is a rare malignancy worldwide, with 140,000 new patients each year and more than 100,000 deaths annually. The review aims to address the controversial aspects of managing GBC. Regional differences of the study worldwide remain pending, and comparative mutational profiles will provide more information on the pathogenesis of GBC. However, certain pathologic aspects are discussed, such as the staging of early GBC, outcome differences between T2 pathologically staged patients, and the necessity of a uniform pathologic report. The surgical management of GBC is still under debate. The extent of liver resection, type of lymphadenectomy, and selection of patients for extended resection are aspects of the disease that require revision. Laparoscopic and robotic approaches were initially slow to develop. However, with time, they have demonstrated their value in the surgical management of GBC. The OMEGA survey, performed to analyze the management practice of surgical treatment of GBC worldwide, demonstrated differences from the recommended guidelines. The OMEGA study, the largest cohort study, examined the outcomes of surgical intervention in 3676 patients from 133 centers. Regarding future directions, the value of collaborative efforts between centers and regions must be emphasized to better understand the different aspects of the disease and globally improve therapeutic strategies for GBC.
胆囊癌(GBC)是全球罕见的恶性肿瘤,每年新增患者 14 万人,每年死亡人数超过 10 万人。本综述旨在探讨管理 GBC 的争议性问题。全球范围内研究的地区差异仍悬而未决,比较突变图谱将为 GBC 的发病机制提供更多信息。然而,本文讨论了某些病理方面的问题,如早期 GBC 的分期、T2 病理分期患者的预后差异以及统一病理报告的必要性。GBC 的手术治疗仍在争论之中。肝脏切除的范围、淋巴腺切除的类型以及选择扩大切除范围的患者都是需要修正的方面。腹腔镜和机器人方法最初发展缓慢。然而,随着时间的推移,它们在 GBC 手术治疗中的价值得到了证明。OMEGA 调查旨在分析全球 GBC 外科治疗的管理实践,结果显示与推荐指南存在差异。OMEGA 研究是规模最大的队列研究,调查了来自 133 个中心的 3676 名患者的手术治疗结果。关于未来的发展方向,必须强调中心和地区之间合作的价值,以更好地了解疾病的不同方面,并在全球范围内改进 GBC 的治疗策略。
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引用次数: 0
Integrated bioinformatics analysis identifies immune-related epithelial-mesenchymal transition prognostic biomarkers and immune infiltrates in patients with lung adenocarcinoma 综合生物信息学分析确定肺腺癌患者中与免疫相关的上皮-间质转化预后生物标志物和免疫浸润
Pub Date : 2023-12-22 DOI: 10.1097/ot9.0000000000000008
Yu Huang, Peng Zhang, Shu-Chang Zhou, Qing Liu
Lung cancer, particularly lung adenocarcinoma (LUAD), is highly lethal. Understanding the critical interaction between epithelial-mesenchymal transition (EMT) and the immune status of patients is imperative for clinical assessment. We conducted bioinformatics analysis to identify potential immune-related EMT (iEMT) prognostic genes and explored the immune status in LUAD. Using data from The Cancer Genome Atlas and GSE68465, differentially expressed genes, were identified, and a risk model was constructed. Cluster analysis was conducted using the Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathways. Our findings revealed 69 differentially expressed iEMT genes, with risk values demonstrating independent prognostic significance for both The Cancer Genome Atlas and GSE68465 samples. The risk value was positively correlated with tumor stage. Immune cell infiltration analysis showed a significant decrease in resting dendritic cells and an increase in CD4 memory T cells in high-risk groups with poor survival prognoses. The immunotherapy analysis revealed weak immunotherapeutic effects in the high-risk group. This study provides insights into potential aberrant differential iEMT genes and risk models and explores immune landscapes that inform personalized immunotherapy in patients with LUAD.
肺癌,尤其是肺腺癌(LUAD)的致死率很高。了解上皮-间质转化(EMT)与患者免疫状态之间的关键相互作用对于临床评估至关重要。 我们进行了生物信息学分析,以确定潜在的免疫相关EMT(iEMT)预后基因,并探索LUAD的免疫状态。我们利用癌症基因组图谱(The Cancer Genome Atlas)和GSE68465中的数据确定了差异表达基因,并构建了风险模型。利用基因本体和京都基因组百科全书途径进行了聚类分析。 我们的研究结果表明,在癌症基因组图谱和 GSE68465 样本中,有 69 个 iEMT 差异表达基因的风险值具有独立的预后意义。风险值与肿瘤分期呈正相关。免疫细胞浸润分析显示,在生存预后较差的高危人群中,静息树突状细胞显著减少,CD4 记忆 T 细胞增加。免疫治疗分析显示,高危组中的免疫治疗效果较弱。 这项研究深入揭示了潜在的异常差异iEMT基因和风险模型,并探索了免疫景观,为LUAD患者的个性化免疫疗法提供了依据。
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引用次数: 0
Immunotherapy for hepatocellular carcinoma: molecular pathogenesis and clinical research progress 肝细胞癌的免疫疗法:分子发病机制与临床研究进展
Pub Date : 2023-12-22 DOI: 10.1097/ot9.0000000000000013
Xuesong Li, Feng Xia
The treatment of hepatocellular carcinoma (HCC) is advancing rapidly in the 21st century. Although there are various treatment methods, the most promising breakthrough seems to be in immunotherapy. Recent guidelines from the American Society of Clinical Oncology and the European Association for the Study of the Liver have recommended immunotherapies with strong antitumor effects for HCC treatment. Emerging systemic therapeutic strategies, such as immune checkpoint inhibitors combined with targeted therapy or local treatment, are among the most promising for improving overall and tumor-free survival times in patients with HCC. This review analyzes the molecular mechanisms of existing immune checkpoint inhibitors, vaccines, and chimeric antigen receptor–T cells; summarizes the latest progress in relevant clinical research; and outlines future trends and opportunities for HCC immunotherapy.
在 21 世纪,肝细胞癌(HCC)的治疗进展迅速。虽然治疗方法多种多样,但最有希望取得突破的似乎是免疫疗法。美国临床肿瘤学会和欧洲肝脏研究协会最近发布的指南推荐将具有强大抗肿瘤作用的免疫疗法用于 HCC 治疗。新兴的全身治疗策略,如免疫检查点抑制剂与靶向治疗或局部治疗相结合,是最有希望改善 HCC 患者总生存期和无瘤生存期的治疗策略之一。本综述分析了现有免疫检查点抑制剂、疫苗和嵌合抗原受体-T 细胞的分子机制,总结了相关临床研究的最新进展,并概述了 HCC 免疫疗法的未来趋势和机遇。
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引用次数: 0
Efficacy of continuous arterial perfusion chemotherapy combined with transarterial chemoembolization regional arterial thermal perfusion in the treatment of pancreatic cancer with liver metastases 持续动脉灌注化疗联合经动脉化疗栓塞区域动脉热灌注治疗肝转移胰腺癌的疗效
Pub Date : 2023-12-22 DOI: 10.1097/ot9.0000000000000001
Zhuo Zhong, Jian Yang, Jing-Zi Luo, Xiong Xie, Zhi-Mei Huang, De Long
The aim of the study was to investigate the efficacy of continuous transcatheter arterial infusion chemotherapy combined with transarterial chemoembolization (TACE) for the treatment of advanced pancreatic cancer with liver metastasis. Sixty patients with advanced pancreatic cancer and liver metastases were enrolled in this study. In the treatment group, 31 patients underwent continuous transcatheter arterial infusion chemotherapy combined with TACE regional arterial thermal perfusion, whereas 29 patients included in the control group received intravenous chemotherapy with gemcitabine and S-1. All patients received maintenance chemotherapy with S-1 after 4 cycles of the study regimen. Treatment efficacy, quality of life, survival, and toxicity were evaluated. Efficacy was better in the treatment group than in the control group, as reflected by the objective remission, partial remission, and disease progression rates (all P < 0.05). The Eastern Cooperative Oncology Group and Numerical Rating Scale pain scores were also higher in the treatment group (both P < 0.05). In survival analysis, the 1-year overall survival rates in the treatment and control groups were 64.516% and 10.345%, respectively, whereas the median overall survival times were 16 and 6 months, respectively (both P < 0.05). The 6-month progression-free survival rates in the treatment and control groups were 77.419% and 13.790%, respectively, and the median progression-free survival times were 12 and 3 months, respectively (both P < 0.05). The rates of hematological and nonhematological toxicological adverse effects were also lower in the treatment group (both P < 0.05). Although the rate of liver dysfunction was higher in the treatment group, this finding had no adverse effects on prognosis. Continuous transcatheter arterial infusion chemotherapy combined with TACE regional arterial perfusion chemotherapy resulted in better efficacy and safety outcomes in patients with pancreatic cancer and liver metastasis, suggesting its utility as a reference method for the clinical treatment of advanced pancreatic cancer.
该研究旨在探讨持续经导管动脉输注化疗联合经动脉化疗栓塞术(TACE)治疗晚期胰腺癌肝转移的疗效。 这项研究共招募了 60 名晚期胰腺癌肝转移患者。在治疗组中,31 名患者接受了连续经导管动脉输注化疗和 TACE 区域动脉热灌注,而对照组中的 29 名患者则接受了吉西他滨和 S-1 静脉化疗。所有患者在接受4个周期的研究方案后都接受了S-1的维持化疗。对治疗效果、生活质量、存活率和毒性进行了评估。 从客观缓解率、部分缓解率和疾病进展率来看,治疗组的疗效优于对照组(P均<0.05)。治疗组的东部肿瘤合作组和数字评分量表疼痛评分也更高(均为 P <0.05)。在生存分析中,治疗组和对照组的1年总生存率分别为64.516%和10.345%,中位总生存时间分别为16个月和6个月(均为P < 0.05)。治疗组和对照组的6个月无进展生存率分别为77.419%和13.790%,中位无进展生存时间分别为12个月和3个月(均为P < 0.05)。治疗组的血液学和非血液学毒性不良反应发生率也较低(均为 P < 0.05)。虽然治疗组的肝功能异常率较高,但这一结果对预后没有不良影响。 连续经导管动脉灌注化疗联合TACE区域动脉灌注化疗在胰腺癌肝转移患者中取得了更好的疗效和安全性,可作为晚期胰腺癌临床治疗的参考方法。
{"title":"Efficacy of continuous arterial perfusion chemotherapy combined with transarterial chemoembolization regional arterial thermal perfusion in the treatment of pancreatic cancer with liver metastases","authors":"Zhuo Zhong, Jian Yang, Jing-Zi Luo, Xiong Xie, Zhi-Mei Huang, De Long","doi":"10.1097/ot9.0000000000000001","DOIUrl":"https://doi.org/10.1097/ot9.0000000000000001","url":null,"abstract":"\u0000 \u0000 \u0000 The aim of the study was to investigate the efficacy of continuous transcatheter arterial infusion chemotherapy combined with transarterial chemoembolization (TACE) for the treatment of advanced pancreatic cancer with liver metastasis.\u0000 \u0000 \u0000 \u0000 Sixty patients with advanced pancreatic cancer and liver metastases were enrolled in this study. In the treatment group, 31 patients underwent continuous transcatheter arterial infusion chemotherapy combined with TACE regional arterial thermal perfusion, whereas 29 patients included in the control group received intravenous chemotherapy with gemcitabine and S-1. All patients received maintenance chemotherapy with S-1 after 4 cycles of the study regimen. Treatment efficacy, quality of life, survival, and toxicity were evaluated.\u0000 \u0000 \u0000 \u0000 Efficacy was better in the treatment group than in the control group, as reflected by the objective remission, partial remission, and disease progression rates (all P < 0.05). The Eastern Cooperative Oncology Group and Numerical Rating Scale pain scores were also higher in the treatment group (both P < 0.05). In survival analysis, the 1-year overall survival rates in the treatment and control groups were 64.516% and 10.345%, respectively, whereas the median overall survival times were 16 and 6 months, respectively (both P < 0.05). The 6-month progression-free survival rates in the treatment and control groups were 77.419% and 13.790%, respectively, and the median progression-free survival times were 12 and 3 months, respectively (both P < 0.05). The rates of hematological and nonhematological toxicological adverse effects were also lower in the treatment group (both P < 0.05). Although the rate of liver dysfunction was higher in the treatment group, this finding had no adverse effects on prognosis.\u0000 \u0000 \u0000 \u0000 Continuous transcatheter arterial infusion chemotherapy combined with TACE regional arterial perfusion chemotherapy resulted in better efficacy and safety outcomes in patients with pancreatic cancer and liver metastasis, suggesting its utility as a reference method for the clinical treatment of advanced pancreatic cancer.\u0000","PeriodicalId":345149,"journal":{"name":"Oncology and Translational Medicine","volume":"7 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138944912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risk evaluation of splenic hilar lymph node metastasis and survival analysis of patients with advanced gastric cancer 晚期胃癌患者脾门淋巴结转移的风险评估和生存分析
Pub Date : 2023-12-22 DOI: 10.1097/ot9.0000000000000010
Guang-cai Niu, Youlong Zhu, Xuanxuan Xiong
There is no consensus regarding the influence of prophylactic no. 10 lymph node (LN) dissection in patients with advanced gastric cancer (AGC). We aimed to evaluate whether patients with AGC could benefit from no. 10 LN dissection and to explore the clinicopathological indicators of no. 10 LN metastasis. We analyzed the data of 218 patients with AGC who underwent standard D2 lymphadenectomy (SD2; n = 108) or modified D2 lymphadenectomy (MD2; n = 110) between January 2017 and January 2021. In addition, we examined factors influencing no. 10 LN metastasis in the SD2 group. Differentiation, tumor location, and no. 4 positive LNs were significantly correlated with no. 10 LN metastasis (P < 0.05). Borrmann classification, differentiation, depth of invasion, LN metastasis (N), and tumor size were found to correlate with survival in univariate analyses. Age, sex, extent of gastrectomy, tumor location, and extent of lymphadenectomy were not associated with survival (P > 0.05). The median survival times were 72.23 and 68.56 months for the SD2 and MD2 groups, respectively (P = 0.635). Postoperative major morbidity and mortality rates were 37.96% and 3.70% in the SD2 group, and 23.64% and 1.82% in the MD2 group, respectively. Based on our findings, prophylactic no. 10 lymphadenectomy may be recommended in patients with AGC who exhibit positive no. 4 LN status, poor differentiation, and tumors located on the greater curvature.
关于对晚期胃癌(AGC)患者进行预防性 No.10淋巴结(LN)清扫术对晚期胃癌(AGC)患者的影响尚未达成共识。我们的目的是评估 AGC 患者是否能从 10 号淋巴结清扫术中获益,并探讨其临床病理变化。10号淋巴结转移的临床病理指标。 我们分析了2017年1月至2021年1月期间接受标准D2淋巴结切除术(SD2;n = 108)或改良D2淋巴结切除术(MD2;n = 110)的218例AGC患者的数据。此外,我们还研究了影响No.10淋巴结转移的影响因素。 分化、肿瘤位置和 no.4个阳性LN与10号LN转移明显相关(P<0.05)。单变量分析发现,Borrmann分类、分化、浸润深度、LN转移(N)和肿瘤大小与生存率相关。年龄、性别、胃切除范围、肿瘤位置和淋巴结切除范围与生存率无关(P > 0.05)。SD2组和MD2组的中位生存时间分别为72.23个月和68.56个月(P = 0.635)。SD2组术后主要发病率和死亡率分别为37.96%和3.70%,MD2组分别为23.64%和1.82%。 根据我们的研究结果,预防性 No.10淋巴结切除术。4淋巴结阳性、分化差以及肿瘤位于大弯处的AGC患者,建议进行预防性10号淋巴结切除术。
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引用次数: 0
Eosinophil disorders: an update on diagnosis and management 嗜酸性粒细胞疾病:诊断和管理的最新进展
Pub Date : 2023-12-22 DOI: 10.1097/ot9.0000000000000012
Chuanyi M. Lu
Eosinophilia can be seen in almost all medical subspecialty patients. Delay in diagnostic workup and treatment is associated with significant morbidity and mortality. Clinical vigilance and timely referral for diagnostic evaluation are critical. Causes of hypereosinophilia (HE) are diverse and can be grouped under 3 categories: primary (neoplastic), secondary (reactive), and idiopathic. Advances in molecular genetic diagnostics have led to elucidation of the genetic basis for many neoplastic hypereosinophilic disorders. One common molecular feature is formation of a fusion gene, resulting in the expression of an aberrantly activated tyrosine kinase (TK). The World Health Organization endorsed a biologically oriented classification scheme and created a new major disease category, namely, myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions. Rearrangement of other TK genes and activating somatic mutation(s) in TK genes have also been reported in eosinophilic neoplasms. Diagnostic evaluation of HE involves a combination of clinical, histopathologic, and immunophenotypic analyses, as well as molecular genetic testing, including next-generation sequencing–based mutation panels. The management of primary HE is largely guided by the underlying molecular genetic abnormalities. Good knowledge of recent advances in HE is necessary to ensure timely and accurate diagnosis and to help optimize patient care.
嗜酸性粒细胞增多症几乎见于所有内科亚专科患者。延误诊断和治疗会导致严重的发病率和死亡率。临床警惕和及时转诊诊断评估至关重要。嗜酸性粒细胞增多症(HE)的病因多种多样,可分为三类:原发性(肿瘤性)、继发性(反应性)和特发性。分子遗传诊断技术的进步已阐明了许多肿瘤性嗜酸性粒细胞过多症的遗传基础。一个共同的分子特征是融合基因的形成,导致异常活化的酪氨酸激酶(TK)的表达。世界卫生组织批准了一个以生物学为导向的分类方案,并创建了一个新的主要疾病类别,即具有嗜酸性粒细胞增多和酪氨酸激酶基因融合的髓细胞/淋巴细胞肿瘤。嗜酸性粒细胞性肿瘤中也有其他 TK 基因重排和 TK 基因激活性体细胞突变的报道。嗜酸性粒细胞瘤的诊断评估包括临床、组织病理学和免疫表型分析,以及分子遗传学检测,包括基于下一代测序的基因突变检测。原发性 HE 的治疗主要以潜在的分子遗传异常为指导。要确保及时准确的诊断并帮助优化患者护理,就必须充分了解 HE 的最新进展。
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引用次数: 0
Venous thromboembolism in patients with liver cancer: a retrospective study 肝癌患者的静脉血栓栓塞:一项回顾性研究
Pub Date : 2023-12-22 DOI: 10.1097/ot9.0000000000000004
Sheng-Li Yang, Jing Zhan, M. Peng, Ling-Zhi Hou, Qiu-Yi He, Hao-Ran Jin, Bai Wei, Jian-Li Hu
Little is known about the association between venous thromboembolism (VTE) and tumors. In this study, we identified the clinical features of patients with liver cancer who presented with at least 1 VTE episode. This was a retrospective case-control study of a single-institution database with univariate and multivariate analyses using χ 2 and Fisher exact tests. Statistical significance was set at P < 0.05. The overall incidence of VTE in the patients with liver cancer was 1.2%. More than half (53.8%) of the 13 patients with liver cancer and venous thrombosis died within 2 months. The thrombus in 12 patients (92.3%) was located within the deep veins, whereas the other patient (7.7%) was diagnosed with a pulmonary embolism. Of the 11 patients, 9 (69.2%) had swelling and/or pain symptoms. All 6 patients with peripherally inserted central catheters (PICCs) had thrombosis, accounting for 46.2% of all patients with liver cancer and venous thrombosis. Compared with the controls, liver cancer patients with PICC tubes, thrombosis-related symptoms such as swelling and pain, traumatic stimulation such as fracture, acute respiratory distress syndrome, and interventional therapy or hemostasis drugs were prone to be diagnosed with VTE (P < 0.05). Liver cancer and thrombosis are rare and have poor prognoses. Liver cancer with thrombosis may be associated with PICC catheterization, traumatic stimulation, or hemostatic drugs. Patients with liver cancer and thrombosis often present with swelling and pain.
人们对静脉血栓栓塞症(VTE)与肿瘤之间的关系知之甚少。在这项研究中,我们确定了至少发生过一次 VTE 的肝癌患者的临床特征。 这是一项针对单一机构数据库的回顾性病例对照研究,使用χ 2 和费雪精确检验进行单变量和多变量分析。统计显著性以 P < 0.05 为标准。 肝癌患者中 VTE 的总发生率为 1.2%。在 13 名肝癌合并静脉血栓的患者中,超过一半(53.8%)的患者在 2 个月内死亡。12 名患者(92.3%)的血栓位于深静脉,另一名患者(7.7%)被诊断为肺栓塞。11 名患者中,有 9 名(69.2%)出现肿胀和/或疼痛症状。6名使用外周置入中心导管(PICC)的患者均有血栓形成,占所有肝癌合并静脉血栓形成患者的46.2%。与对照组相比,PICC置管、血栓相关症状(如肿胀和疼痛)、外伤刺激(如骨折)、急性呼吸窘迫综合征、介入治疗或止血药的肝癌患者易被诊断为VTE(P < 0.05)。 肝癌合并血栓形成较为罕见,且预后较差。肝癌合并血栓形成可能与 PICC 导管、外伤刺激或止血药物有关。肝癌合并血栓形成的患者通常表现为肿胀和疼痛。
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引用次数: 0
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Oncology and Translational Medicine
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