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Comparison of 68Ga-PSMA PET and mpMRI for prostate cancer local staging: a comprehensive review and direct meta-analysis. 68Ga-PSMA PET 与 mpMRI 在前列腺癌局部分期方面的比较:全面综述和直接荟萃分析。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-11-01 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1410229
Xinyu Jin, Yijie Cai, Xiaolu Ren

Purpose: This meta-analysis is conducted to evaluate the comparative diagnostic efficacy of 68Ga-PSMA PET vs. mpMRI in detecting local staging of prostate cancer(PCa).

Methods: A comprehensive search was conducted in the PubMed and Embase databases to identify publications up to February 2024. The analysis included studies that evaluated the direct comparison of 68Ga-PSMA PET and mpMRI for local staging of prostate cancer. The reliability of the analyzed studies was evaluated using the QUADAS-2 tool.

Results: The meta-analysis included 10 articles involving 505 patients, which revealed that both 68Ga-PSMA PET and mpMRI had similar sensitivities and specificities in detecting extracapsular extension(ECE) and seminal vesicle invasion(SVI). The sensitivities for ECE were 0.56 (95% CI: 0.41-0.71) for 68Ga-PSMA PET and 0.57 (95% CI: 0.43-0.71) for mpMRI, and specificities were both 0.84 (68Ga-PSMA PET 95% CI: 0.75-0.91, mpMRI 95% CI: 0.76-0.91).For SVI, sensitivities were 0.57 (95% CI: 0.46-0.68) for 68Ga-PSMA PET and 0.70 (95% CI: 0.60-0.80) for mpMRI, with specificities of 0.92 (95% CI: 0.86-0.96) for 68Ga-PSMA PET and 0.94 (95% CI: 0.89-0.98) for mpMRI. There were no notable variations in sensitivity or specificity between the two methods for detecting ECE and SVI (P = 0.89 and 0.93 for ECE, 0.09 and 0.57 for SVI).

Conclusions: This meta-analysis indicates that 68Ga-PSMA PET has similar sensitivity and specificity to mpMRI in local prostate cancer staging. Nevertheless, the limited study sample size calls for further, larger prospective studies to validate these findings.

Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=522438, identifier CRD42024522438.

目的:本荟萃分析旨在评估68Ga-PSMA PET与mpMRI在检测前列腺癌(PCa)局部分期方面的诊断效果比较:方法:在PubMed和Embase数据库中进行了全面检索,以确定截至2024年2月的出版物。分析包括对 68Ga-PSMA PET 和 mpMRI 用于前列腺癌局部分期的直接比较进行评估的研究。使用QUADAS-2工具评估了所分析研究的可靠性:荟萃分析包括10篇文章,涉及505名患者,结果显示68Ga-PSMA PET和mpMRI在检测囊外扩展(ECE)和精囊侵犯(SVI)方面具有相似的敏感性和特异性。68Ga-PSMA PET 对 ECE 的敏感性为 0.56(95% CI:0.41-0.71),mpMRI 为 0.57(95% CI:0.43-0.71),特异性均为 0.84(68Ga-PSMA PET 95% CI:0.75-0.91,mpMRI 95% CI:0.76-0.91)。对于 SVI,68Ga-PSMA PET 的灵敏度为 0.57(95% CI:0.46-0.68),mpMRI 为 0.70(95% CI:0.60-0.80),68Ga-PSMA PET 的特异性为 0.92(95% CI:0.86-0.96),mpMRI 为 0.94(95% CI:0.89-0.98)。两种方法在检测 ECE 和 SVI 的敏感性和特异性方面没有明显差异(ECE 的 P = 0.89 和 0.93,SVI 的 P = 0.09 和 0.57):这项荟萃分析表明,68Ga-PSMA PET 与 mpMRI 在前列腺癌局部分期方面具有相似的敏感性和特异性。尽管如此,由于研究样本量有限,需要进一步开展更大规模的前瞻性研究来验证这些发现。系统综述注册:https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=522438,标识符为 CRD42024522438。
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引用次数: 0
Association between sarcopenia and outcomes of surgically treated oral squamous cell carcinoma: a systematic review and meta-analysis. 肌肉疏松症与口腔鳞状细胞癌手术治疗结果之间的关系:系统回顾与荟萃分析。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-11-01 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1445956
Kai Luo, Kaiming Chen, Yu Li, Yang Ji

Background: Sarcopenia is a significant predictor of perioperative adverse outcomes for a variety of malignancies and has significant negative effects on surgical and oncology outcomes. The development of sarcopenia is mainly attributed to aging, inactivity, poor nutrition, and decreased testosterone levels, which suggest a poor prognosis after surgery. Therefore, the primary objective of this systematic review and meta-analysis was to determine the effect of sarcopenia on postoperative survival in patients with oral squamous cell carcinoma.

Methods: We systematically searched databases including PubMed, Embase, Cochrane Library, Medline and Web of Science from inception to 12 July 2023, to determine the prognostic value of sarcopenia in oral squamous cell carcinoma. The primary outcome was three-year survival, and secondary outcomes were one-year survival, five-year survival, infection and pneumonia within 30 days postoperatively. Original studies comparing postoperative outcomes in patients with sarcopenia and non-sarcopenia for oral squamous cell carcinoma curative therapy were met the eligibility criteria. We used Endnote X9 for the screening process and used RevMan 5.4.1 for our meta-analysis, all results in this study were performed using a random-effects model. QUIPS (Quality in Prognosis Studies) tools and GRADE (Grading of Recommendations, Assessment, Development and Evaluations) were used for risk of bias and quality of evidence assessment.

Result: Ten original studies with 50611 patients met the inclusion criteria. Meta-analysis showed that patients with sarcopenia reduced three-year OS after surgery (OR = 0.73, 95% CI = 0.66-0.81, P < 0.00001). The one-year OS (OR = 0.71, 95% CI = 0.67-0.75, P < 0.00001) and five-year OS (OR = 0.60, 95% CI = 0.45-0.79, P = 0.0003) decreased significantly. Patients with sarcopenia had significantly increased 30-day postoperative mortality and an also increased risk of pneumonia (OR = 1.36, 95% CI = 1.24-1.49, P < 0.00001) and surgical site infection (OR = 2.49, 95% CI = 1.06-5.84, P = 0.04).

Conclusion: Sarcopenia is associated with reduced survival in patients after curative resection. Meanwhile, 30-day mortality, postoperative pneumonia and surgical site infection were significantly higher than those in nonsarcopenic patients. Sarcopenia as an extremely important factor of postoperative adverse outcomes in OSCC patients need special attention.

Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42023444424.

背景:肌肉疏松症是多种恶性肿瘤围手术期不良预后的重要预测因素,对手术和肿瘤预后有显著的负面影响。肌肉疏松症的发生主要归因于衰老、缺乏活动、营养不良和睾酮水平下降,这些因素都预示着手术后的不良预后。因此,本系统综述和荟萃分析的主要目的是确定肌肉疏松症对口腔鳞状细胞癌患者术后生存的影响:我们系统地检索了从开始到2023年7月12日的数据库,包括PubMed、Embase、Cochrane Library、Medline和Web of Science,以确定肌肉疏松症在口腔鳞状细胞癌中的预后价值。主要结果为三年生存率,次要结果为一年生存率、五年生存率、术后 30 天内的感染和肺炎。比较肌肉疏松症与非肌肉疏松症患者接受口腔鳞状细胞癌根治性治疗的术后效果的原创研究符合资格标准。我们使用 Endnote X9 进行筛选,并使用 RevMan 5.4.1 进行荟萃分析,本研究的所有结果均采用随机效应模型。QUIPS(预后研究质量)工具和GRADE(推荐、评估、发展和评价分级)用于评估偏倚风险和证据质量:结果:10 项原始研究,50611 名患者符合纳入标准。Meta 分析表明,肌肉疏松症患者术后三年的 OS 会降低(OR = 0.73,95% CI = 0.66-0.81,P < 0.00001)。一年OS(OR = 0.71,95% CI = 0.67-0.75,P < 0.00001)和五年OS(OR = 0.60,95% CI = 0.45-0.79,P = 0.0003)显著下降。肌肉疏松症患者的术后30天死亡率明显增加,肺炎(OR = 1.36,95% CI = 1.24-1.49,P < 0.00001)和手术部位感染(OR = 2.49,95% CI = 1.06-5.84,P = 0.04)的风险也有所增加:结论:肌肉疏松症与根治性切除术后患者的生存率降低有关。同时,30 天死亡率、术后肺炎和手术部位感染也明显高于非肌无力患者。肌肉疏松症是导致 OSCC 患者术后不良预后的一个极其重要的因素,需要特别关注。系统综述注册:https://www.crd.york.ac.uk/PROSPERO/,标识符为 CRD42023444424。
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引用次数: 0
Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma-affected patients: a pilot study. 头颈部鳞状细胞癌患者唾液中体细胞突变的纵向检测:一项试点研究。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-11-01 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1480302
Chiara Dal Secco, Alessandro Tel, Lorenzo Allegri, Federica Baldan, Francesco Curcio, Salvatore Sembronio, Flavio Faletra, Massimo Robiony, Giuseppe Damante, Catia Mio

Introduction: Liquid biopsy is gaining momentum for diagnosis and surveillance of cancer patients. Indeed, head and neck squamous cell carcinoma (HNSCC) is burdened with poor prognosis and high recurrence rates after treatment. It is therefore crucial to be able to detect minimal residual disease early after radical treatment or relapse, so surgery can be performed when the disease is still resectable. In this scenario, aim of this study is to create a liquid biopsy-based pipeline able to detect somatic tumor mutations in a cohort of HNSCC-affected patients undergoing follow-up after surgical intervention.

Methods: Our cohort included 17 patients diagnosed with HNSCC over 4 years. The first saliva sample was collected before surgery while the rest were collected during the subsequent visits, according to the follow-up schedule. Salivary DNA (sDNA) was extracted, and a 52-gene next generation sequencing (NGS)-based panel was used for somatic variants detection.

Results: 41.2% of samples collected before surgery bore a deleterious variant (n=7/17). Overall, 29.2% of samples harbored at least a pathogenic variant (n=21/72). The most frequently mutated genes were TP53 (80%), FBXW7 (8%), PDGFRA (4%) and PTEN (4%). Finally, three patients experienced a loco-regional relapse by clinical evaluations, anticipated in 67% of cases by the molecular one (n=2/3).

Discussion: Our data indicate that sDNA could aid in the monitoring of patients' follow-up as low-frequency somatic mutations could be assessed from the saliva of HNSCC patients. Prospectively, these results suggest that salivary-based liquid biopsy might pave the way for personalized molecular therapies based on mutational data.

引言液体活检在诊断和监测癌症患者方面的应用日益广泛。事实上,头颈部鳞状细胞癌(HNSCC)预后不良,治疗后复发率高。因此,能在根治性治疗或复发后早期检测出微小残留病灶至关重要,以便在病灶仍可切除时进行手术。在这种情况下,本研究的目的是建立一个基于液体活检的管道,以便在接受手术干预后进行随访的 HNSCC 患者队列中检测体细胞肿瘤突变:我们的队列包括17名确诊为HNSCC的患者,历时4年。第一份唾液样本在手术前采集,其余样本根据随访计划在随后的就诊中采集。提取唾液DNA(sDNA),使用基于52个基因的新一代测序(NGS)面板进行体细胞变异检测:41.2%的手术前采集样本带有有害变异(n=7/17)。总体而言,29.2%的样本至少含有一个致病变异基因(n=21/72)。最常见的突变基因是TP53(80%)、FBXW7(8%)、PDGFRA(4%)和PTEN(4%)。最后,三名患者在临床评估中出现局部区域性复发,其中67%的病例在分子评估中出现复发(n=2/3):我们的数据表明,sDNA 可以帮助监测患者的随访情况,因为可以从 HNSCC 患者的唾液中评估低频体细胞突变。展望未来,这些结果表明,基于唾液的液体活检可能会为基于突变数据的个性化分子疗法铺平道路。
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引用次数: 0
Using the length of pleural tag to predetermine pleural invasion by lung adenocarcinomas. 利用胸膜标签的长度来预判肺腺癌的胸膜侵犯。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-11-01 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1463568
Yingdong Chen, Qianwen Huang, Zeyang Lin, Xiaoxi Guo, Yiting Liao, Zhe Li, Anqi Li

Introduction: Pleural contact is present when the underlying pathology of the pleural tag (PT) involves the pleura. This study aimed to preoperatively predict PI by lung adenocarcinomas (ACCs) with PT, exploring CT imaging parameters indicative of PT consisting of pleura and tumor invasiveness.

Methods: This single-center, retrospective study included 84 consecutive patients diagnosed with solid ACCs with PT, who underwent resection at our hospital between May 2019 and July 2023. CT imaging parameters analyzed included: LPT (the length of PT), defined as the shortest distance from the tumor edge to the retracted pleura. Patients were divided into PI -ve group and PI +ve group according to PI status. Regression analyses were used to determine predictive factors for PI.

Results: The study evaluated 84 patients (mean age, 62.0 ± 13.8 years; 45 females) pathologically diagnosed with ACCs with PT on CT. Multivariate regression analysis identified tumor size (OR 1.18, 95% CI 1.09-1.29, p = 0.000), LPT (OR 0.48, 95% CI 0.25-0.91, p = 0.03) and multiple PTs to multiple types of pleura (OR 3.58, 95% CI 1.13-11.20, p = 0.03) as independent predictors for PI. The combination of these CT features improved the predictive performance for preoperatively identifying PI, achieving high specificity and moderate accuracy. The sensitivity of predicting PI with only LPT < 3 mm was 96.9%.

Conclusion: This study determined that LPT is effective for predetermining PI in ACCs with PT.

导言:当胸膜标签(PT)的潜在病理涉及胸膜时,就会出现胸膜接触。本研究旨在术前预测伴有PT的肺腺癌(ACCs)的PI,探讨CT成像参数对PT包括胸膜和肿瘤侵袭性的指示作用:这项单中心回顾性研究纳入了2019年5月至2023年7月期间在我院接受切除术的84例连续确诊为伴有PT的实性ACC患者。分析的 CT 成像参数包括LPT(PT长度),定义为肿瘤边缘到牵拉胸膜的最短距离。根据 PI 状态将患者分为 PI -ve 组和 PI +ve 组。回归分析用于确定PI的预测因素:研究评估了 84 例经病理诊断为 ACC 并在 CT 上显示 PT 的患者(平均年龄为 62.0 ± 13.8 岁,女性 45 例)。多变量回归分析发现,肿瘤大小(OR 1.18,95% CI 1.09-1.29,p = 0.000)、LPT(OR 0.48,95% CI 0.25-0.91,p = 0.03)和多种胸膜类型的多个 PT(OR 3.58,95% CI 1.13-11.20,p = 0.03)是 PI 的独立预测因素。这些 CT 特征的组合提高了术前识别 PI 的预测性能,达到了高特异性和中等准确性。仅用 LPT < 3 mm 预测 PI 的灵敏度为 96.9%:本研究发现,LPT 可有效预测有 PT 的 ACC 的 PI。
{"title":"Using the length of pleural tag to predetermine pleural invasion by lung adenocarcinomas.","authors":"Yingdong Chen, Qianwen Huang, Zeyang Lin, Xiaoxi Guo, Yiting Liao, Zhe Li, Anqi Li","doi":"10.3389/fonc.2024.1463568","DOIUrl":"10.3389/fonc.2024.1463568","url":null,"abstract":"<p><strong>Introduction: </strong>Pleural contact is present when the underlying pathology of the pleural tag (PT) involves the pleura. This study aimed to preoperatively predict PI by lung adenocarcinomas (ACCs) with PT, exploring CT imaging parameters indicative of PT consisting of pleura and tumor invasiveness.</p><p><strong>Methods: </strong>This single-center, retrospective study included 84 consecutive patients diagnosed with solid ACCs with PT, who underwent resection at our hospital between May 2019 and July 2023. CT imaging parameters analyzed included: LPT (the length of PT), defined as the shortest distance from the tumor edge to the retracted pleura. Patients were divided into PI -ve group and PI +ve group according to PI status. Regression analyses were used to determine predictive factors for PI.</p><p><strong>Results: </strong>The study evaluated 84 patients (mean age, 62.0 ± 13.8 years; 45 females) pathologically diagnosed with ACCs with PT on CT. Multivariate regression analysis identified tumor size (OR 1.18, 95% CI 1.09-1.29, <i>p</i> = 0.000), LPT (OR 0.48, 95% CI 0.25-0.91, <i>p</i> = 0.03) and multiple PTs to multiple types of pleura (OR 3.58, 95% CI 1.13-11.20, <i>p</i> = 0.03) as independent predictors for PI. The combination of these CT features improved the predictive performance for preoperatively identifying PI, achieving high specificity and moderate accuracy. The sensitivity of predicting PI with only LPT < 3 mm was 96.9%.</p><p><strong>Conclusion: </strong>This study determined that LPT is effective for predetermining PI in ACCs with PT.</p>","PeriodicalId":12482,"journal":{"name":"Frontiers in Oncology","volume":"14 ","pages":"1463568"},"PeriodicalIF":3.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11563982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142647237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case report: Single gene testing and comprehensive genomic profiling in non-small cell lung cancer-a case series of divergent results from a large reference laboratory. 病例报告:非小细胞肺癌中的单基因检测和综合基因组图谱分析--来自一家大型参考实验室的不同结果的病例系列。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-10-31 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1445668
Kyle C Strickland, Mary K Nesline, Rebecca A Previs, Heidi Ko, Maureen Cooper, Jennifer R Rushton, Zachary D Wallen, Sarabjot Pabla, Jeffrey M Conroy, Mark Sausen, Kamal S Saini, Luca Cantini, Taylor J Jensen, Brian J Caveney, Marcia Eisenberg, Eric A Severson, Shakti Ramkissoon

Clinical management of non-small cell lung cancer (NSCLC) requires accurate identification of tumor-specific genetic alterations to inform treatment options. Historically, providers have relied on single-gene testing (SGT) for actionable variants due to a perception of cost-effectiveness and/or efficient turnaround time compared to next-generation sequencing (NGS). However, not all actionable variants may be evaluated through SGT modalities, and an SGT approach can exhaust valuable tissue needed for more comprehensive analyses. In contrast, comprehensive genomic profiling (CGP) tests employ NGS to sequence megabases of DNA and RNA to evaluate all relevant molecular alterations, providing a broader genetic profile to identify actionable alterations that SGT may not accurately or efficiently assess. Here, we briefly describe four cases from a large reference laboratory in which actionable alterations were identified by CGP but not SGT. The discussion highlights the utility and advantages of using CGP to provide complete and timely treatment options and clinical trial opportunities for patients with NSCLC.

非小细胞肺癌(NSCLC)的临床治疗需要准确鉴定肿瘤特异性基因变异,以便为治疗方案提供依据。从历史上看,与新一代测序(NGS)相比,单基因检测(SGT)具有成本效益和/或周转时间短的优势,因此医疗服务提供者一直依赖于单基因检测(SGT)来鉴定可操作变异。然而,并非所有可操作变异都能通过 SGT 模式进行评估,而且 SGT 方法可能会耗尽更全面分析所需的宝贵组织。与此相反,综合基因组图谱(CGP)检测采用 NGS 对数百万个 DNA 和 RNA 进行测序,以评估所有相关的分子变异,从而提供更广泛的基因图谱,以确定 SGT 可能无法准确或有效评估的可操作变异。在此,我们简要介绍了一家大型参考实验室的四个病例,在这些病例中,CGP 发现了可操作的改变,而 SGT 则没有。讨论强调了使用 CGP 为 NSCLC 患者提供完整及时的治疗方案和临床试验机会的实用性和优势。
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引用次数: 0
End-of-life management of multiple myeloma patients in the era of CD38 and immunotherapy. CD38 和免疫疗法时代多发性骨髓瘤患者的临终管理。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-10-31 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1436587
Pierre Sesques, Lionel Karlin, Emmanuel Massy, Alizée Maarek, Guillaume Aussedat, Anne Lazareth, Camille Golfier, Fadhela Bouafia-Sauvy, Helene Lequeu, Dana Ghergus, Violaine Safar, Emmanuelle Ferrant, Emmanuel Bachy, Hervé Ghesquières, Cyrille B Confavreux, Delphine Demangel, Emeline Perrial, Charles Dumontet

Background: In spite of spectacular advances in the treatment of multiple myeloma, a majority of patients will die from this disease or related complications. While a great amount of focus has been dedicated to the development of novel therapies, little attention has been paid to latter stages of patient follow-up.

Patients and methods: In order to describe patient management during this critical period as well as the immediate causes and circumstances of death, we have analyzed a single center series of 100 patients diagnosed with myeloma who died between 2016 and 2021.

Results: Patients received a median of 3 lines of treatment, including 2 during their last year of life. Sixty per cent of patients had received daratumumab. Fifty patients had obtained complete remission or very good partial response at some time during the course of disease but 75 were refractory to the last treatment line. Eighteen patients died while their disease was stable or in remission while 77 had confirmed progressive disease at time of death. Thirty six patients had uncontrolled sepsis, 49 were in renal failure and 24 had hypercalcemia at the time of death. Seventy three patients presented with lymphopenia. Disease progression was documented in a majority of MM patients at the time of death and was associated with disease-related complications in a significant number of patients.

Conclusion: Disease progression remains the main cause of death in patients with multiple myeloma.

背景:尽管多发性骨髓瘤的治疗取得了巨大进步,但大多数患者仍将死于这种疾病或相关并发症。尽管人们将大量精力集中在新型疗法的开发上,但却很少关注患者后期的随访:为了描述患者在这一关键时期的管理情况以及死亡的直接原因和情况,我们分析了在2016年至2021年期间死亡的100名确诊为骨髓瘤的单中心系列患者:患者接受的治疗中位数为3个疗程,其中2个疗程是在生命的最后一年。60%的患者接受了达拉单抗治疗。50名患者在病程的某个阶段获得了完全缓解或非常好的部分反应,但75名患者对最后一个治疗方案产生了难治性。18名患者在病情稳定或缓解期间死亡,77名患者死亡时病情确诊为进展期。有 36 名患者患有无法控制的败血症,49 名患者肾功能衰竭,24 名患者死亡时患有高钙血症。73 名患者出现淋巴细胞减少症。大多数MM患者在死亡时都有疾病进展的记录,相当多的患者还伴有与疾病相关的并发症:结论:疾病进展仍是多发性骨髓瘤患者死亡的主要原因。
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引用次数: 0
Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome. 病例报告:变体调用管道选择对分子诊断结果影响的案例研究。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-10-31 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1422811
Rostislav Skitchenko, Sergey Smirnov, Mikhail Krapivin, Anna Smirnova, Mykyta Artomov, Alexander Loboda, Yulia Dinikina

Next-generation sequencing technologies have not only defined a breakthrough in medical genetics, but also been able to enter routine clinical practice to determine individual genetic susceptibilities. Modern technological developments are routinely introduced to genetic analysis overtaking the established approaches, potentially raising a number of challenges. To what extent is the advantage of new methodologies in synthetic metrics, such as precision and recall, more important than stability and reproducibility? Could differences in the technical protocol for calling variants be crucial to the diagnosis and, by extension, the patient's treatment strategy? A regulatory review process may delay the incorporation of potentially beneficial technologies, resulting in missed opportunities to make the right medical decisions. On the other hand, a blind adoption of new technologies based solely on synthetic metrics of precision and recall can lead to incorrect conclusions and adverse outcomes for the specific patient. Here, we use the example of a patient with a WHO-diagnosed desmoplastic/nodular SHH-medulloblastoma to explore how the choice of DNA variant search protocol affects the genetic diagnostics outcome.

下一代测序技术不仅在医学遗传学领域取得了突破性进展,而且还能够进入常规临床实践,以确定个体的遗传易感性。现代技术的发展已成为遗传分析的常规,超越了既有的方法,这可能会带来一系列挑战。新方法在精确度和召回率等合成指标方面的优势在多大程度上比稳定性和可重复性更重要?调用变异体的技术方案差异是否会对诊断,进而对患者的治疗策略起到关键作用?监管审查程序可能会延误潜在有益技术的应用,导致错失做出正确医疗决策的机会。另一方面,仅根据精确度和召回率的合成指标盲目采用新技术可能会导致错误的结论,并对特定患者造成不良后果。在此,我们以一名被世界卫生组织诊断为脱鳞/结节性 SHH-母细胞瘤的患者为例,探讨 DNA 变异搜索方案的选择如何影响基因诊断结果。
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引用次数: 0
Retroperitoneal bronchogenic cyst: a case report and literature review. 腹膜后支气管源性囊肿:病例报告和文献综述。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-10-31 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1406270
Bohao Jiang, Tiantian Xie, Jiyuan Hu, Yitong Xu, Hao Zhang

Introduction: Retroperitoneal bronchogenic cyst, typically situated in the subdiaphragmatic region, is a rare congenital benign developmental abnormality arising from dysplasia of the foregut and abnormal budding of the tracheobronchial tree. Due to its low incidence, there are limited reports regarding this condition.

Case presentation: Four retroperitoneal bronchogenic cysts near the left adrenal gland were identified without accompanying clinical symptoms. One case was misdiagnosed as an adrenal tumor prior to surgery, while the others were diagnosed as retroperitoneal cysts of uncertain origin. All cases underwent surgical resection, with three being performed laparoscopically and one utilizing robot-assisted techniques. Pathological reports confirmed the diagnosis of bronchogenic cyst in each instance. The prognosis was favorable for all four patients, with no complications or recurrences observed. Additionally, a literature review was conducted, encompassing 82 cases, which revealed similar characteristics and radiological manifestations in the majority of cases.

Conclusion: Although retroperitoneal bronchogenic cysts are rare developmental malformations lacking distinctive clinical and radiological features, reported cases exhibit similarities in certain clinical and imaging characteristics. This report offers additional insights into the diagnosis and management of this rare disease. Future reports are essential to enhance understanding of this disease.

简介腹膜后支气管源性囊肿通常位于膈下区域,是一种罕见的先天性良性发育异常,源于前肠发育不良和气管支气管树的异常出芽。由于发病率较低,有关该病症的报道十分有限:发现左肾上腺附近有四个腹膜后支气管源性囊肿,但未伴有临床症状。其中一例在手术前被误诊为肾上腺肿瘤,其他病例被诊断为来源不明的腹膜后囊肿。所有病例均接受了手术切除,其中三例采用腹腔镜手术,一例采用机器人辅助技术。病理报告均确诊为支气管源性囊肿。四名患者的预后均良好,未发现并发症或复发。此外,我们还对82例病例进行了文献回顾,发现大多数病例都有类似的特征和放射学表现:结论:尽管腹膜后支气管源性囊肿是一种罕见的发育畸形,缺乏独特的临床和影像学特征,但已报道的病例在某些临床和影像学特征上具有相似性。本报告为这一罕见疾病的诊断和治疗提供了更多见解。今后的报告对加深人们对这种疾病的了解至关重要。
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引用次数: 0
Radiomics nomogram combined with clinical factors for predicting pathological complete response in resectable esophageal squamous cell carcinoma. 放射组学提名图结合临床因素预测可切除食管鳞状细胞癌的病理完全反应。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-10-31 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1347650
Zihao Lu, Yongsen Li, Wenxuan Hu, Yonghao Cao, Xin Lv, Xinyu Jia, Shiyu Shen, Jun Zhao, Chun Xu

Introduction: Predicting the efficacy of neoadjuvant immunochemotherapy (NICT) for esophageal squamous cell carcinoma (ESSC) prior to surgery can minimize unnecessary surgical interventions and facilitate personalized treatment strategies. Our goal is to develop and validate an image-based radiomic model using preoperative computed tomography (CT) scans and clinical data to predict pathological complete response (pCR) in resectable ESSC following neoadjuvant immunotherapy.

Methods: We retrospectively collected data from patients diagnosed with ESCC at the First Affiliated Hospital of Soochow University between January 2018 and May 2023, who received preoperative neoadjuvant immunochemotherapy. Eligible patients were randomly divided into training and validation sets. Radiomic features extracted from preprocessed CT images were used to develop a radiomic model, incorporating Radiomic score (Rad-score) and clinical factors through multivariate logistic regression analysis. The model's performance was assessed for calibration, discrimination, and clinical utility in an independent validation cohort.

Results: We enrolled a total of 105 eligible participants who were randomly divided into two groups: a training set (N=74) and a validation set (N=31). After data dimension reduction and feature selection, we identified 11 radiomic features, which collectively formed the Rad-score. Rad-score had an area under the curve (AUC) of 0.83 (95% CI 0.72-0.93) in the training set and 0.78 (95% CI 0.60-0.95) in the validation set. Multivariate analysis revealed that radiological response and Neutrophil-Lymphocyte Ratio (NLR) were independent predictors of pCR, with p-values of 0.0026 and 0.0414, respectively. We developed and validated a nomogram combining Rad-score and clinical features, achieving AUCs of 0.90 (95% CI 0.82-0.98) in the training set and 0.85 (95% CI 0.70-0.99) in the validation set. The Delong test confirmed the nomogram's superiority over pure radiomic and clinical models. Decision curve analysis (DCA) and integrated discrimination improvement (IDI) assessment supported the clinical value and superiority of the combined model.

Conclusion: The nomogram, which integrates Rad-score and clinical features, offers a precise and reliable method for predicting pCR status in ESCC patients who have undergone neoadjuvant immunochemotherapy. This tool aids in tailoring treatment strategies to individual patients.

简介:在手术前预测食管鳞状细胞癌(ESSC)新辅助免疫化疗(NICT)的疗效可以最大限度地减少不必要的手术干预,促进个性化治疗策略的制定。我们的目标是利用术前计算机断层扫描(CT)和临床数据,开发并验证一种基于图像的放射学模型,以预测新辅助免疫疗法后可切除食管鳞状细胞癌的病理完全反应(pCR):我们回顾性地收集了2018年1月至2023年5月期间在苏州大学附属第一医院确诊的ESCC患者的数据,这些患者在术前接受了新辅助免疫化疗。符合条件的患者被随机分为训练集和验证集。通过多变量逻辑回归分析,从预处理后的CT图像中提取放射组学特征,结合放射组学评分(Radi-score)和临床因素,建立放射组学模型。在独立验证队列中对模型的校准、辨别和临床实用性进行了评估:我们共招募了 105 名符合条件的参与者,他们被随机分为两组:训练集(74 人)和验证集(31 人)。经过数据维度缩减和特征选择,我们确定了11个放射学特征,它们共同组成了Rad-score。Rad-score的曲线下面积(AUC)在训练集中为0.83(95% CI 0.72-0.93),在验证集中为0.78(95% CI 0.60-0.95)。多变量分析显示,放射学反应和中性粒细胞-淋巴细胞比值(NLR)是pCR的独立预测因子,p值分别为0.0026和0.0414。我们开发并验证了结合 Rad 评分和临床特征的提名图,训练集的 AUC 为 0.90(95% CI 0.82-0.98),验证集的 AUC 为 0.85(95% CI 0.70-0.99)。德隆测试证实了提名图优于纯放射学和临床模型。决策曲线分析(DCA)和综合辨别改进(IDI)评估支持了组合模型的临床价值和优越性:综合了Rad评分和临床特征的提名图为预测接受新辅助免疫化疗的ESCC患者的pCR状态提供了一种精确可靠的方法。该工具有助于为患者量身定制治疗策略。
{"title":"Radiomics nomogram combined with clinical factors for predicting pathological complete response in resectable esophageal squamous cell carcinoma.","authors":"Zihao Lu, Yongsen Li, Wenxuan Hu, Yonghao Cao, Xin Lv, Xinyu Jia, Shiyu Shen, Jun Zhao, Chun Xu","doi":"10.3389/fonc.2024.1347650","DOIUrl":"10.3389/fonc.2024.1347650","url":null,"abstract":"<p><strong>Introduction: </strong>Predicting the efficacy of neoadjuvant immunochemotherapy (NICT) for esophageal squamous cell carcinoma (ESSC) prior to surgery can minimize unnecessary surgical interventions and facilitate personalized treatment strategies. Our goal is to develop and validate an image-based radiomic model using preoperative computed tomography (CT) scans and clinical data to predict pathological complete response (pCR) in resectable ESSC following neoadjuvant immunotherapy.</p><p><strong>Methods: </strong>We retrospectively collected data from patients diagnosed with ESCC at the First Affiliated Hospital of Soochow University between January 2018 and May 2023, who received preoperative neoadjuvant immunochemotherapy. Eligible patients were randomly divided into training and validation sets. Radiomic features extracted from preprocessed CT images were used to develop a radiomic model, incorporating Radiomic score (Rad-score) and clinical factors through multivariate logistic regression analysis. The model's performance was assessed for calibration, discrimination, and clinical utility in an independent validation cohort.</p><p><strong>Results: </strong>We enrolled a total of 105 eligible participants who were randomly divided into two groups: a training set (N=74) and a validation set (N=31). After data dimension reduction and feature selection, we identified 11 radiomic features, which collectively formed the Rad-score. Rad-score had an area under the curve (AUC) of 0.83 (95% CI 0.72-0.93) in the training set and 0.78 (95% CI 0.60-0.95) in the validation set. Multivariate analysis revealed that radiological response and Neutrophil-Lymphocyte Ratio (NLR) were independent predictors of pCR, with p-values of 0.0026 and 0.0414, respectively. We developed and validated a nomogram combining Rad-score and clinical features, achieving AUCs of 0.90 (95% CI 0.82-0.98) in the training set and 0.85 (95% CI 0.70-0.99) in the validation set. The Delong test confirmed the nomogram's superiority over pure radiomic and clinical models. Decision curve analysis (DCA) and integrated discrimination improvement (IDI) assessment supported the clinical value and superiority of the combined model.</p><p><strong>Conclusion: </strong>The nomogram, which integrates Rad-score and clinical features, offers a precise and reliable method for predicting pCR status in ESCC patients who have undergone neoadjuvant immunochemotherapy. This tool aids in tailoring treatment strategies to individual patients.</p>","PeriodicalId":12482,"journal":{"name":"Frontiers in Oncology","volume":"14 ","pages":"1347650"},"PeriodicalIF":3.5,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11560869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142618144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Performance of DNA methylation and blood-borne tumor indicators in detecting colorectal neoplasia and adenomas: a comparative study with the fecal occult blood test. DNA 甲基化和血源性肿瘤指标在检测结直肠肿瘤和腺瘤方面的性能:与粪便隐血试验的比较研究。
IF 3.5 3区 医学 Q2 ONCOLOGY Pub Date : 2024-10-31 eCollection Date: 2024-01-01 DOI: 10.3389/fonc.2024.1373088
Ming Chen, Ji Zhang, Bin Xu, Bilian Yao, Zhenzhen Wang, Ying Chen, Kaiyu Cai, Chenli Zhang

Objectives: To evaluate the performance of stool methylated syndecan2 (mSDC2), methylated septin9 (mSEPT9), fecal occult blood test (FOBT), carcinoembryonic antigen (CEA), carbohydrate antigen 125 (CA125) and carbohydrate antigen 199 (CA199) in detecting colorectal neoplasia and adenomas.

Methods: Blood-borne CEA, CA125, and CA199 levels were measured by electrochemiluminescence. The SDC2 methylation was detected by Methylation Detection Kit for Human SDC2 Gene (Real time PCR), and the SEPT9 methylation was detected by the Septin9 Gene Methylation Detection Kit based on PCR fluorescent probe assay. The colonoscopy combined with tissue biopsy pathology was used as a validation criterion for colorectal neoplasia.

Results: In detecting colorectal neoplasia, the AUCs of mSDC2, FOBT and mSEPT9 were 0.935 (95% CI: 0.915-0.956, P<0.001), 0.824 (95% CI: 0.617-1.000, P<0.001) and 0.671 (95% CI: 0.511-0.831, P<0.001), respectively. The sensitivity of mSDC2, FOBT and mSEPT9 were 100.0%, 66.7% and 40.0%, respectively. But the AUC of CEA, CA125 and CA199 were not statistically significant for colorectal neoplasia (all P>0.05). The combined application of mSEPT9 and mSDC2 showed the best predictive performance (AUC: 0.956, 95% CI: 0.887~1.000). For adenomas, the AUC of FOBT was extremely low (AUC: 0.524, 95% CI: 0.502-0.545, P=0.004). The CEA, CA125, CA199, mSEPT9 and mSDC2 were not statistically significant in detecting adenomas (all P>0.05).

Conclusions: For individual tests, FOBT and mSDC2 are relatively better indicators for detecting colorectal neoplasia compared to mSEPT9, CEA, CA125 and CA199. The combined form of mSEPT9 and mSDC2 to detect colorectal neoplasia has good predictive performance. However, none of these indicators demonstrated significant predictive power for detecting adenomas in our study.

研究目的评估粪便甲基化联合碳2(mSDC2)、甲基化隔蛋白9(mSEPT9)、粪便隐血试验(FOBT)、癌胚抗原(CEA)、碳水化合物抗原125(CA125)和碳水化合物抗原199(CA199)在检测结直肠肿瘤和腺瘤方面的性能:方法:采用电化学发光法测定血源性 CEA、CA125 和 CA199 水平。采用人 SDC2 基因甲基化检测试剂盒(实时 PCR)检测 SDC2 的甲基化,采用基于 PCR 荧光探针检测的 Septin9 基因甲基化检测试剂盒检测 SEPT9 的甲基化。结肠镜检查结合组织活检病理结果作为结直肠肿瘤的验证标准:结果:在检测结直肠肿瘤方面,mSDC2、FOBT 和 mSEPT9 的 AUC 为 0.935(95% CI:0.915-0.956,P0.05)。mSEPT9 和 mSDC2 的联合应用显示出最佳的预测性能(AUC:0.956,95% CI:0.887~1.000)。对于腺瘤,FOBT 的 AUC 极低(AUC:0.524,95% CI:0.502-0.545,P=0.004)。CEA、CA125、CA199、mSEPT9 和 mSDC2 在检测腺瘤方面没有统计学意义(所有 P>0.05):结论:就单项检测而言,与 mSEPT9、CEA、CA125 和 CA199 相比,FOBT 和 mSDC2 是检测结直肠肿瘤的更好指标。mSEPT9 和 mSDC2 联合检测结直肠肿瘤具有良好的预测性能。然而,在我们的研究中,这些指标均未显示出检测腺瘤的显著预测能力。
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Frontiers in Oncology
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