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circEFR3A promotes breast cancer progression by sponging miR-590-3p to upregulate androgen receptor expression. circEFR3A通过海绵miR-590-3p上调雄激素受体的表达来促进乳腺癌的进展。
IF 2.2 4区 医学 Q3 ONCOLOGY Pub Date : 2025-07-17 eCollection Date: 2025-09-01 DOI: 10.3892/ol.2025.15192
Yunzhe Mi, Xinle Wang, Han Song, Zhenyu Wu, Sainan Li, Fei Liu, Wei Liu, Meixiang Sang, Cuizhi Geng

Circular (circ)RNA, a type of non-coding RNA, serves a critical role in several diseases, including cancer. The present study aimed to elucidate the involvement of hsa_circ_0006522 (circEFR3A) in the advancement of breast cancer (BC) and uncover the molecular mechanisms behind its function. Fluorescence in situ hybridization (FISH) was performed on a tissue microarray to assess the expression and intracellular localization of circEFR3A. Kaplan-Meier analysis and Cox proportional hazards model were utilized to evaluate the potential prognostic significance of circEFR3A in relation to the overall survival of patients with BC. The biological function was assessed through gain- and loss-of-function experiments. In addition, dual luciferase reporter assays, RNA immunoprecipitation, FISH and western blotting were performed to identify the interaction between circEFR3A, microRNA (miR)-590-3p and androgen receptors (ARs). Rescue experiments were performed to identify the hypothetical regulatory role of circEFR3A on BC progression in vivo and in vitro. The results of the present study demonstrated that circEFR3A was significantly upregulated in BC tissues and was associated with a poor prognosis in patients. Findings from the Cell Counting Kit-8, colony formation and Transwell assays revealed that increased circEFR3A expression notably promoted BC cell proliferation, invasion and migration, as well as tumor growth in vivo. Mechanistically, circEFR3A was demonstrated to act as a molecular sponge for miR-590-3p in vitro and in vivo, thereby regulating AR expression and functioning as an oncogene. In summary, the findings of the present study indicate that circEFR3A acts as a novel oncogene in BC by sponging miR-590-3p, leading to the upregulation of AR expression and consequently driving BC progression.

环状RNA (circ)是一种非编码RNA,在包括癌症在内的几种疾病中起着关键作用。本研究旨在阐明hsa_circ_0006522 (circEFR3A)在乳腺癌(BC)进展中的作用,并揭示其功能背后的分子机制。在组织微阵列上进行荧光原位杂交(FISH)来评估circEFR3A的表达和细胞内定位。利用Kaplan-Meier分析和Cox比例风险模型评估circEFR3A与BC患者总生存期的潜在预后意义。通过功能增益和功能损失实验评估生物功能。此外,通过双荧光素酶报告基因检测、RNA免疫沉淀、FISH和western blotting检测circEFR3A、microRNA (miR)-590-3p和雄激素受体(ARs)之间的相互作用。我们进行了救援实验,以确定circEFR3A在体内和体外对BC进展的假设调节作用。本研究结果表明,circEFR3A在BC组织中显著上调,并与患者预后不良相关。细胞计数试剂盒-8、集落形成和Transwell实验的结果显示,circEFR3A表达的增加显著促进了BC细胞的增殖、侵袭和迁移,以及肿瘤在体内的生长。在机制上,circEFR3A被证明在体外和体内作为miR-590-3p的分子海绵,从而调节AR表达并作为癌基因发挥作用。总之,本研究的结果表明circEFR3A在BC中作为一种新的致癌基因,通过抑制miR-590-3p,导致AR表达上调,从而推动BC的进展。
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引用次数: 0
Robot‑assisted laparoscopic partial cystectomy for urachal carcinoma: A case report. 机器人辅助腹腔镜膀胱部分切除术治疗尿管癌1例报告。
IF 2.5 4区 医学 Q3 ONCOLOGY Pub Date : 2025-04-01 eCollection Date: 2025-05-01 DOI: 10.3892/ol.2025.15003
Chujin Ye, Qifan Xie, Zhiye Liu, Fangqianyu Zhong, Kun Wei, Xiaoyong Pu

Urachal carcinoma is a rare and aggressive malignancy with an unknown aetiology and poor prognosis. The present case report described a 31-year-old male patient who initially presented with a 5-day history of haematuria. FDG-PET/CT demonstrated nodules in the anterior wall of the bladder with increased glucose metabolism, which were suggestive of malignancy. A cystoscopic biopsy confirmed the diagnosis of urachal carcinoma. The patient underwent en bloc robot-assisted laparoscopic modified partial cystectomy, along the umbilicus and urachus resection, and pelvic lymph node dissection. The patient recovered within 2 weeks postoperatively, with complete tumour resection confirmed by pathological analysis, which showed negative margins and no recurrence was detected during a 5-month follow-up. The current case highlighted the potential of robot-assisted laparoscopic surgery as an effective treatment option for urachal carcinoma, offering insights for further optimization and broader clinical application, and reviewed the currently available literature.

尿管癌是一种罕见的侵袭性恶性肿瘤,病因不明,预后差。本病例报告描述了一名31岁男性患者,最初表现为5天血尿史。FDG-PET/CT显示膀胱前壁结节伴糖代谢增高,提示恶性肿瘤。膀胱镜活检确诊为尿管癌。患者接受了整体机器人辅助腹腔镜改良部分膀胱切除术,沿脐和脐切除,以及盆腔淋巴结清扫。患者术后2周内康复,病理证实肿瘤完全切除,5个月随访,切缘阴性,无复发。本病例强调了机器人辅助腹腔镜手术作为尿管癌有效治疗选择的潜力,为进一步优化和更广泛的临床应用提供了见解,并回顾了现有文献。
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引用次数: 0
Gastric carcinoma harbouring loss‑of‑function mutations in the PIK3R1, ATRX and RBM10 genes exhibits diverse histological features associated with EBV infection and TP53 inactivation: A case report. 携带PIK3R1、ATRX和RBM10基因功能缺失突变的胃癌表现出与EBV感染和TP53失活相关的多种组织学特征:一个病例报告。
IF 2.5 4区 医学 Q3 ONCOLOGY Pub Date : 2025-04-01 eCollection Date: 2025-05-01 DOI: 10.3892/ol.2025.15002
Se Un Jeong, Euno Choi, Yongil Kim, Jaeyoung Byeon, So-Woon Kim

This study presents a novel case of gastric carcinoma (GC) with diverse histological features and unique molecular alterations. A 62-year-old man with hematemesis was diagnosed with advanced GC and hepatic metastasis. Despite palliative gastrectomy to control bleeding, the patient succumbed within 6 months. Histological examination revealed three distinct tumour components: Gastric adenosquamous carcinoma (GASC), GC with lymphoid stroma (GCLS) and poorly differentiated adenocarcinoma (PDAD). Immunohistochemical staining, next-generation sequencing and Epstein-Barr virus (EBV) in situ hybridisation were performed to characterise the tumour. The GASC component revealed diffuse p40 and p63 immunoreactivity, while the GCLS and PDAD components were negative for both markers. All components harboured a missense mutation in the phosphoinositide-3-kinase regulatory subunit 1 gene and deletions in the ATRX and RNA binding motif protein 10 genes. Additionally, the GCLS component was EBV positive and the PDAD component demonstrated concurrent EBV infection and TP53 inactivation. The present case highlights the importance of thorough molecular and histological evaluation, as distinct molecular alterations and heterogenous EBV status in histologically diverse components may significantly influence patient prognosis and treatment strategies.

本研究报告了一例具有不同组织学特征和独特分子改变的新型胃癌。62岁男性呕血被诊断为晚期胃癌和肝转移。尽管姑息性胃切除术以控制出血,但患者在6个月内死亡。组织学检查显示三种不同的肿瘤成分:胃腺鳞癌(GASC),胃腺鳞癌伴淋巴样间质(GCLS)和低分化腺癌(PDAD)。采用免疫组织化学染色、新一代测序和eb病毒(EBV)原位杂交来表征肿瘤。GASC组分显示p40和p63的弥漫性免疫反应性,而GCLS和PDAD组分对这两种标志物均呈阴性。所有成分都包含磷酸肌醇-3-激酶调控亚基1基因的错义突变和ATRX和RNA结合基序蛋白10基因的缺失。此外,GCLS组分EBV阳性,PDAD组分显示EBV感染和TP53失活。本病例强调了彻底的分子和组织学评估的重要性,因为不同的分子改变和组织学不同成分的异质EBV状态可能会显著影响患者的预后和治疗策略。
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引用次数: 0
Primary leiomyosarcoma of the ureter: A case report. 输尿管原发性平滑肌肉瘤1例。
IF 2.5 4区 医学 Q3 ONCOLOGY Pub Date : 2025-04-01 eCollection Date: 2025-05-01 DOI: 10.3892/ol.2025.15004
Raffaele Baio, Olivier Intilla, Giovanni Molisso, Umberto Di Mauro, Diodato Ferrante, Giuseppe Di Lorenzo, Carlo Buonerba, Rita Citarella, Tommaso Pagano, Roberto Sanseverino

Malignant tumors of the smooth muscle of the ureter are extremely rare, with ~13 cases of leiomyosarcoma of the ureter being reported to date. A 59-year-old Caucasian woman presented to 'Umberto I' Hospital (Nocera Inferiore, Italy) with acute abdominal pain, predominantly in the right lumbar fossa. The patient exhibited a functional single kidney, due to left renal atrophy for a long-standing stenosis of the pyelo-ureteric joint. With the exception of this condition and hypertension (under medical therapy), the patient was in excellent clinical condition. Furthermore, the patient was not a smoker. Computed tomography indicated a stricture with a peri-ureteral soft tissue mass of 45×52 mm at the middle third of the ureter at the level of common iliac vessels. Laparoscopic excision with safety margin and a right tension free end-to-end anastomosis between the two stumps of the ureter was performed. The diagnosis of leiomyosarcoma of the right ureter was made by pathological examination. Although leiomyosarcoma is rarely noted in the urinary tract, it should be considered in the differential diagnosis of ureteral stricture disease and retroperitoneal tumors.

输尿管平滑肌恶性肿瘤极为罕见,迄今为止报道的输尿管平滑肌肉瘤约13例。一名59岁白人妇女因急性腹痛(主要在右腰窝)来到Umberto I医院(意大利Nocera Inferiore)。患者表现出单肾功能,由于长期狭窄的肾盂输尿管左肾萎缩。除此病和高血压(药物治疗)外,患者临床状况良好。此外,该患者不吸烟。计算机断层扫描显示输尿管中三分之一处髂总血管水平处输尿管周围软组织肿块45×52 mm狭窄。腹腔镜下安全边缘切除,两根输尿管残端间无张力端对端吻合。病理诊断为右输尿管平滑肌肉瘤。虽然平滑肌肉瘤很少发生在泌尿道,但在输尿管狭窄疾病和腹膜后肿瘤的鉴别诊断中应予以考虑。
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引用次数: 0
Bone mesenchymal stem cell‑derived exosome‑encapsulated microRNA‑125b‑5p inhibits ovarian cancer progression via DDX5 downregulation. 骨间充质干细胞来源的外泌体包裹的microRNA - 125b - 5p通过下调DDX5抑制卵巢癌进展。
IF 2.5 4区 医学 Q3 ONCOLOGY Pub Date : 2025-04-01 eCollection Date: 2025-05-01 DOI: 10.3892/ol.2025.15001
Yuxia Wang, Wei Wang, Dan Zheng, Ying Gao

Exosomes can be used to mediate the delivery of nucleic acids such as microRNA-125b-5p (miR-125b-5p), a tumor-suppressor in certain types of cancer, into tumor cells. The present study investigated the use of bone mesenchymal stem cells-derived exosome (BMSCs-Exo) delivery of miR-125b-5p in ovarian cancer (OC). BMSCs were transfected with miR-125b-5p mimic, from which exosomes termed Exo-miR-125b-5p mimic were extracted. The expression levels of miR-125b-5p in OC tissue samples, BMSCs, exosomes and SKOV3 cells were quantified using reverse transcription-quantitative PCR. The influence of Exo-miR-125b-5p mimic on the biological functions of OC was evaluated through cell proliferation, invasion, migration and apoptosis assays. The targeting relationship between miR-125b-5p and DEAD-box helicase 5 (DDX5) was verified, and the expression levels of DDX5 in OC samples and SKOV3 cells were quantified using western blotting. miR-125b-5p was downregulated in tumor tissue samples from patients with OC. BMSCs-Exo reduced the malignant properties of SKOV3 cells in vitro, and these effects were be advanced by miR-125b-5p upregulation. miR-125b-5p targeted and inhibited DDX5 expression. DDX5 overexpression inhibited Exo-miR-125b-5p-induced suppression of OC development. Overall, this study highlights that BMSCs-Exo-encapsulated miR-125b-5p inhibited OC progression via DDX5 downregulation, providing insight into the molecular mechanisms underlying OC.

外泌体可用于介导将microRNA-125b-5p (miR-125b-5p)等核酸传递到肿瘤细胞中,microRNA-125b-5p是某些类型癌症中的肿瘤抑制因子。本研究调查了骨间充质干细胞来源的外泌体(BMSCs-Exo)在卵巢癌(OC)中递送miR-125b-5p的使用。用miR-125b-5p mimic转染骨髓间充质干细胞,从中提取称为Exo-miR-125b-5p mimic的外泌体。采用逆转录-定量PCR方法定量检测miR-125b-5p在OC组织样本、BMSCs、外泌体和SKOV3细胞中的表达水平。通过细胞增殖、侵袭、迁移和凋亡实验评估Exo-miR-125b-5p mimic对OC生物学功能的影响。验证miR-125b-5p与DEAD-box解旋酶5 (DDX5)的靶向关系,并采用western blotting定量检测OC样品和SKOV3细胞中DDX5的表达水平。miR-125b-5p在OC患者的肿瘤组织样本中下调。BMSCs-Exo在体外降低SKOV3细胞的恶性特性,并且这些作用通过miR-125b-5p上调而得到推进。miR-125b-5p靶向并抑制DDX5的表达。DDX5过表达抑制exo - mir -125b-5p诱导的OC发育抑制。总体而言,本研究强调bmscs - exo封装的miR-125b-5p通过下调DDX5抑制OC的进展,从而深入了解OC的分子机制。
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引用次数: 0
Erratum: [Corrigendum] Knockdown of lncRNA C5orf66‑AS1 inhibits osteosarcoma cell proliferation and invasion via miR‑149‑5p upregulation. [勘误]lncRNA C5orf66‑AS1的下调通过miR‑149‑5p上调抑制骨肉瘤细胞的增殖和侵袭。
IF 2.5 4区 医学 Q3 ONCOLOGY Pub Date : 2025-03-31 eCollection Date: 2025-05-01 DOI: 10.3892/ol.2025.15000
Hui Zhang, Jie Song

[This corrects the article DOI: 10.3892/ol.2021.13018.].

[这更正了文章DOI: 10.3892/ol.2021.13018.]。
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引用次数: 0
Achieving stringent complete remission in relapsed/refractory multiple myeloma with liver extramedullary disease after CAR‑T cell therapy: A case report. CAR - T细胞治疗后复发/难治性多发性骨髓瘤伴肝髓外疾病患者达到严格的完全缓解:1例报告
IF 2.5 4区 医学 Q3 ONCOLOGY Pub Date : 2025-03-28 eCollection Date: 2025-05-01 DOI: 10.3892/ol.2025.14999
Lingyun Zhou, Danbo Liu, Fang Du, Jiao Chen, Wenyi Lu, Hongxian Xiang, Haifei Chen

Multiple myeloma (MM) is a clonal plasma cell malignancy characterized by bone marrow infiltration and the presence of monoclonal proteins in the blood and urine. However, despite the advances that have been made in terms of its treatment, relapsed/refractory MM (RRMM) remains a significant challenge. Chimeric antigen receptor (CAR)-T cell therapy, which involves the engineering of T-cells to express CARs targeting specific antigens on tumor cells, has emerged as a promising therapeutic approach for RRMM. The present case report presents a patient with RRMM with liver extramedullary disease (EMD) who achieved stringent complete remission following CAR-T cell therapy. This case report highlights the efficacy of CAR-T cell therapy in treating RRMM, also discussing the patient's clinical course, treatment outcomes and side effects, and moreover, a review of the literature that focuses on the treatment of EMD using CAR-T cell therapy.

多发性骨髓瘤(MM)是一种以骨髓浸润和血液和尿液中存在单克隆蛋白为特征的克隆性浆细胞恶性肿瘤。然而,尽管在治疗方面取得了进展,但复发/难治性MM (RRMM)仍然是一个重大挑战。嵌合抗原受体(CAR)-T细胞疗法是一种很有前途的治疗RRMM的方法,它涉及到t细胞的工程化,以表达靶向肿瘤细胞上特定抗原的CAR。本病例报告提出了一例伴有肝髓外疾病(EMD)的RRMM患者,在CAR-T细胞治疗后达到严格的完全缓解。本病例报告强调了CAR-T细胞治疗RRMM的疗效,并讨论了患者的临床病程、治疗结果和副作用,此外,还回顾了有关CAR-T细胞治疗EMD的文献。
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引用次数: 0
Predicting prognosis of patients with triple‑negative breast cancer undergoing neoadjuvant chemotherapy based on inflammatory status at different time points: A propensity score matching analysis. 基于不同时间点炎症状况预测三阴性乳腺癌新辅助化疗患者的预后:倾向评分匹配分析
IF 2.5 4区 医学 Q3 ONCOLOGY Pub Date : 2025-03-27 eCollection Date: 2025-05-01 DOI: 10.3892/ol.2025.14998
Qian Guo, Bingping Wang, Xinran Gao, Pu Zhao, Shuang Lv

Triple-negative breast cancer (TNBC) is a highly aggressive subtype of breast cancer with limited targeted treatment options, making the identification of reliable prognostic markers crucial for improving patient outcomes. The present study aimed to assess the predictive ability of pre-chemotherapy and pre-surgery inflammatory status on the prognosis of patients with TNBC undergoing neoadjuvant therapy. A total of 422 patients with TNBC who received neoadjuvant chemotherapy at the Inner Mongolia People's Hospital between January 2017 and December 2022 were selected for analysis. Fasting venous blood samples were collected 1 day prior to chemotherapy and 1 day prior to surgery to assess and calculate inflammatory markers, including the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), systemic immune-inflammation index (SII) and systemic inflammation response index (SIRI). The optimal cut-off values of the inflammatory markers were determined using receiver operating characteristic curves. Survival analysis was used to evaluate the differences in survival and significant prognostic factors. Propensity score matching (PSM) analysis was performed to further asses the prognostic value of the relevant factors. Survival analysis indicated that patients with high pre-chemotherapy and pre-surgery NLR, PLR, SII and SIRI scores exhibited shorter overall survival (OS) rates compared with those with low scores (all P<0.05). Multivariate analysis revealed that tumor-node-metastasis stage, pathological complete response and pre-surgery SII were independent prognostic factors for OS. Following PSM, the area under the curve for SII was 0.642 and patients with high SII scores exhibited shorter OS rates than those with low scores (χ2=8.452; P=0.004). Therefore, these results indicated that both pre-chemotherapy and pre-surgery inflammatory statuses are associated with the OS of patients with TNBC undergoing neoadjuvant chemotherapy, notably pre-surgery SII.

三阴性乳腺癌(TNBC)是一种高度侵袭性的乳腺癌亚型,靶向治疗方案有限,因此确定可靠的预后标志物对于改善患者预后至关重要。本研究旨在评估化疗前和手术前炎症状态对TNBC患者新辅助治疗预后的预测能力。选取2017年1月至2022年12月在内蒙古人民医院接受新辅助化疗的TNBC患者422例进行分析。化疗前1天和手术前1天采集空腹静脉血,评估和计算炎症标志物,包括中性粒细胞与淋巴细胞比值(NLR)、血小板与淋巴细胞比值(PLR)、全身免疫炎症指数(SII)和全身炎症反应指数(SIRI)。使用受试者工作特征曲线确定炎症标志物的最佳临界值。生存分析用于评估生存和重要预后因素的差异。采用倾向评分匹配(PSM)分析进一步评估相关因素的预后价值。生存分析显示,化疗前和术前NLR、PLR、SII和SIRI评分较高的患者总生存率(OS)较低(p < p > =8.452;P = 0.004)。因此,这些结果表明,化疗前和术前炎症状态都与接受新辅助化疗的TNBC患者的OS相关,尤其是术前SII。
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引用次数: 0
Respiratory microbiota diversity as a predictive biomarker for the efficacy of PD‑1 blockades in patients with advanced non‑small cell lung cancer: A retrospective exploratory study. 呼吸微生物群多样性作为PD - 1阻断治疗晚期非小细胞肺癌患者疗效的预测性生物标志物:一项回顾性探索性研究
IF 2.5 4区 医学 Q3 ONCOLOGY Pub Date : 2025-03-26 eCollection Date: 2025-05-01 DOI: 10.3892/ol.2025.14997
Liang Zhang, Ming-Jiang Li, Xiao-Ping Li, Bo Yang, Ting Xiao, Ping Wang, Wei-Dong Zhang

Despite advancements in immunotherapy, particularly regarding programmed cell death protein 1 (PD-1)/programmed death-ligand 1 blockades, the clinical outcomes in non-small cell lung cancer (NSCLC) remain variable with limited predictive biomarkers currently available. The present study investigated respiratory microbiota diversity as a potential biomarker to predict the efficacy of PD-1 blockades in patients with advanced NSCLC. A retrospective analysis was conducted on 60 patients treated with PD-1 blockades from May 2019 to May 2023. Clinical data were collected and respiratory microbiota from deep induced sputum specimens were analyzed using 16S rRNA gene sequencing. An index of respiratory microbiota α diversity was applied and exploratory analysis was performed accordingly. The objective response rate (ORR) and disease control rate among the 60 patients receiving PD-1 blockades was 23.3% (95% CI, 13.4-36.0%) and 58.3% (95% CI, 44.9-70.9%), respectively. Analysis of prognostic data of patients with advanced NSCLC receiving PD-1 blockades monotherapy demonstrated a median progression-free survival of 3.4 months (95% CI, 2.54-4.26) and a median overall survival (OS) of 12.3 months (95% CI, 6.29-18.31). Patients were stratified into high and low α diversity groups based on the Shannon diversity index of respiratory microbiota. The ORR was increased in the high diversity group (26.7%) compared with that of the low diversity group (20.0%), although the difference was not statistically significant (P=0.542). Notably, the high diversity group demonstrated a longer median PFS (3.9 vs. 2.8 months; P=0.017) and median OS (16.8 vs. 6.8 months; P=0.016) compared with that of the low diversity group. These findings suggested that PD-1 blockades demonstrate promising therapeutic activity for patients with previously treated advanced NSCLC in clinical practice. Respiratory microbiota α diversity might serve as a potential biomarker to predict the efficacy of PD-1 blockades monotherapy in patients with advanced NSCLC in the future. Therefore, further prospective studies are warranted to validate these findings and to explore the underlying mechanisms by which respiratory microbiota might modulate the immune response to cancer therapy.

尽管免疫疗法取得了进展,特别是程序性细胞死亡蛋白1 (PD-1)/程序性死亡配体1阻断疗法,但非小细胞肺癌(NSCLC)的临床结果仍然多变,目前可用的预测性生物标志物有限。本研究探讨了呼吸微生物群多样性作为预测晚期非小细胞肺癌患者PD-1阻断疗效的潜在生物标志物。对2019年5月至2023年5月60例PD-1阻断治疗患者进行回顾性分析。收集临床资料,采用16S rRNA基因测序对深度诱导痰标本进行呼吸道微生物群分析。采用呼吸微生物群α多样性指数进行探索性分析。60例接受PD-1阻断治疗的患者的客观缓解率(ORR)和疾病控制率分别为23.3% (95% CI, 13.4-36.0%)和58.3% (95% CI, 44.9-70.9%)。对接受PD-1阻断剂单药治疗的晚期NSCLC患者的预后数据分析显示,中位无进展生存期为3.4个月(95% CI, 2.54-4.26),中位总生存期(OS)为12.3个月(95% CI, 6.29-18.31)。根据呼吸微生物群Shannon多样性指数将患者分为高α多样性组和低α多样性组。高多样性组的ORR(26.7%)高于低多样性组(20.0%),但差异无统计学意义(P=0.542)。值得注意的是,高多样性组表现出更长的中位PFS(3.9个月vs 2.8个月;P=0.017)和中位OS (16.8 vs. 6.8个月;P=0.016),与低多样性组比较。这些发现表明,PD-1阻断剂在临床实践中对先前治疗过的晚期NSCLC患者显示出有希望的治疗活性。呼吸微生物群α多样性可能作为预测PD-1阻断剂单药治疗晚期非小细胞肺癌疗效的潜在生物标志物。因此,需要进一步的前瞻性研究来验证这些发现,并探索呼吸道微生物群可能调节癌症治疗免疫反应的潜在机制。
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引用次数: 0
SNP array analysis facilitates the identification of novel chromosomal alterations associated with disease and SNPs related to adverse drug reactions in neuroblastoma. SNP阵列分析有助于识别神经母细胞瘤中与疾病相关的新染色体改变和与药物不良反应相关的SNP。
IF 2.5 4区 医学 Q3 ONCOLOGY Pub Date : 2025-03-24 eCollection Date: 2025-05-01 DOI: 10.3892/ol.2025.14988
Kailan Chen, Hanpeng Li, Yujie Luo, Jiaqi Liu, Huichao Liu, Yongli Tian, Yifei Yu, Yun Xu, Li Chen, Qiong Xu, Ying Li

Chromosomal abnormalities are common characteristics of neuroblastoma, and have been associated with treatment, relapse and survival risk factors. The processes governing the incidence or advancement of chromosomal copy number abnormalities remain unclear, despite progress in understanding their prognostic implications. The present study aimed to provide a comprehensive understanding of genetic alterations, clinical implications, and the association between copy number aberrations (CNAs) and clinical parameters. Single nucleotide polymorphism (SNP) array analysis was performed on a set of 45 neuroblastoma samples to examine chromosomal CNAs and SNPs. Logistic regression analysis was performed to identify SNPs associated with adverse drug reactions (ADRs). In the present study, numerous CNAs were observed in 92% of neuroblastoma tumors, while CNAs were found in 15% of ganglioneuroblastoma tumors. The segmental alterations were mainly observed in stage 3 or 4 neuroblastoma cases that had tumor sizes >10 cm. The present study concentrated on analyzing entire chromosome modifications and revealed that, in contrast to gain, loss of heterozygosity (LOH) mostly occurred during stages 3 and 4 of neuroblastoma. Only stage 3 and 4 neuroblastomas with tumor sizes >10 cm were found to exhibit loss of the Y chromosome, which was associated with similar clinical characteristics as segmental alterations. LOH of the whole chromosome might be a subgroup of whole chromosome alterations, and could be a novel prognosis and treatment marker. Using a regression model, 13 SNPs were identified to be strongly associated with ADRs following chemotherapy for neuroblastoma. Although validation studies in independent cohorts are required, the present findings support the use of CNAs and SNPs for predicting neuroblastoma treatment outcomes.

染色体异常是神经母细胞瘤的常见特征,并且与治疗、复发和生存危险因素相关。控制染色体拷贝数异常的发生或进展的过程仍然不清楚,尽管在了解其预后意义方面取得了进展。本研究旨在全面了解基因改变、临床意义以及拷贝数畸变(CNAs)与临床参数之间的关系。对45例神经母细胞瘤样本进行单核苷酸多态性(SNP)阵列分析,检测染色体CNAs和SNP。进行Logistic回归分析以确定与药物不良反应(adr)相关的snp。在本研究中,92%的神经母细胞瘤肿瘤中观察到大量的CNAs,而15%的神经节神经母细胞瘤肿瘤中发现CNAs。节段性改变主要见于肿瘤大小为bb10 ~ 10cm的3期或4期神经母细胞瘤病例。本研究集中分析了整个染色体的修饰,并揭示了与获得相反,杂合性缺失(LOH)主要发生在神经母细胞瘤的第3和第4期。只有肿瘤大小为bbb10 cm的3期和4期神经母细胞瘤表现为Y染色体缺失,其临床特征与节段性改变相似。全染色体LOH可能是全染色体改变的一个亚群,可能是一种新的预后和治疗指标。使用回归模型,确定了13个snp与神经母细胞瘤化疗后不良反应密切相关。虽然需要在独立队列中进行验证研究,但目前的研究结果支持使用CNAs和snp来预测神经母细胞瘤治疗结果。
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引用次数: 0
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Oncology Letters
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