Pub Date : 2025-07-01Epub Date: 2024-10-22DOI: 10.1097/CEJ.0000000000000916
Mohammad Sina, Shiva Zarinfam, Silvia Clara Giliani, Pietro Luigi Poliani, Keivan Majidzadeh-A
Lynch syndrome accounts for 3-5% of all colorectal and endometrial cancer cases, and suboptimal management of Lynch syndrome in the Middle East resulted in the underdiagnosis of mutation carriers. Probands from 24 unrelated Iranian families with a history of cancer(s) suggestive of Lynch syndrome underwent microsatellite instability analysis or immunohistochemistry, multigene panel testing, copy number variation detection, or multiplex ligation-dependent probe amplification. Pathogenic variants were identified in five patients (21%), including three in MSH2 , one in MSH6 , and one in PMS2. Microsatellite instability analysis showed the lengths of the CAT25 marker in tumor and normal samples were 149 and 148 bp, respectively. Among 21 family members with Lynch syndrome in the MSH2 gene, identified from the three families who previously underwent cascade screening, colorectal and endometrial cancers were the most frequent. While 66% of patients had insurance that included coverage for mutation carrier screening, only one insurance provider extended coverage for next-generation sequencing. Special attention to probands and telematic management of at-risk relatives to organize blood sample collection at their convenience enhanced cascade testing 20-fold per proband. In conclusion, the age of onset and segregation analysis indicated that PMS1 may not be a cancer susceptibility gene, and the tumor spectrum in MSH2 pathogenic carriers is similar to Western countries. Collecting blood samples at patients' convenience is a possible strategy to reduce the cost of identifying Lynch syndrome through cascade testing. The genetic analysis of patients for inherited cancers would optimize the current management of Lynch syndrome in Iran by omitting noncarriers from surveillance programs.
{"title":"Germline testing of Iranian families suspected of Lynch syndrome: molecular characterization and current surveillance of families with pathogenic variants in MSH2 , MSH6 , and PMS2.","authors":"Mohammad Sina, Shiva Zarinfam, Silvia Clara Giliani, Pietro Luigi Poliani, Keivan Majidzadeh-A","doi":"10.1097/CEJ.0000000000000916","DOIUrl":"10.1097/CEJ.0000000000000916","url":null,"abstract":"<p><p>Lynch syndrome accounts for 3-5% of all colorectal and endometrial cancer cases, and suboptimal management of Lynch syndrome in the Middle East resulted in the underdiagnosis of mutation carriers. Probands from 24 unrelated Iranian families with a history of cancer(s) suggestive of Lynch syndrome underwent microsatellite instability analysis or immunohistochemistry, multigene panel testing, copy number variation detection, or multiplex ligation-dependent probe amplification. Pathogenic variants were identified in five patients (21%), including three in MSH2 , one in MSH6 , and one in PMS2. Microsatellite instability analysis showed the lengths of the CAT25 marker in tumor and normal samples were 149 and 148 bp, respectively. Among 21 family members with Lynch syndrome in the MSH2 gene, identified from the three families who previously underwent cascade screening, colorectal and endometrial cancers were the most frequent. While 66% of patients had insurance that included coverage for mutation carrier screening, only one insurance provider extended coverage for next-generation sequencing. Special attention to probands and telematic management of at-risk relatives to organize blood sample collection at their convenience enhanced cascade testing 20-fold per proband. In conclusion, the age of onset and segregation analysis indicated that PMS1 may not be a cancer susceptibility gene, and the tumor spectrum in MSH2 pathogenic carriers is similar to Western countries. Collecting blood samples at patients' convenience is a possible strategy to reduce the cost of identifying Lynch syndrome through cascade testing. The genetic analysis of patients for inherited cancers would optimize the current management of Lynch syndrome in Iran by omitting noncarriers from surveillance programs.</p>","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":"349-356"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12140556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-07-01Epub Date: 2024-10-31DOI: 10.1097/CEJ.0000000000000932
Naíza M M Abrahim, Roberta B Cavalcante, Maria Inês de M C Pardini, Silvia H B Rabenhorst, Adriana Camargo Ferrasi
Oral cancer is a public health problem worldwide. Late diagnosis results in a low survival rate. However, this tumor can arise from oral precancerous lesions and identification of biomarkers in precursor lesions has the potential for early diagnosis, improving patient survival. In this context, proteins involved in the cell cycle control are potentially promising. This study aimed to evaluate the importance of immunohistochemical expression of BUBR1, MCM2, and GMNN as biomarkers of oral carcinogenesis considering different oral sites. Sixty-six samples of oral epithelial dysplasia (from 33 males and 33 females) and 63 samples of oral squamous cell carcinoma (from 44 males and 19 females) were subjected to immunohistochemistry to detect some human proteins. Ki67 expression was included as a marker of cell proliferation. Marker expression was quantified by manually counting at least 1000 cells, and the labeling index was used in all statistical analyses. GMNN, MCM2, BUBR1 (nuclear and cytoplasmic labeling), and Ki67 expression levels were higher in carcinomas than in dysplasia ( P < 0.05). Cytoplasmic BUBR1 was a good marker of malignancy (AUC = 0.8525, P < 0.05), but Ki67 was not (AUC = 0.5943, P = 0.0713). GMNN, MCM2, BUBR1, and Ki67 had higher expression in carcinoma than in dysplasia, regardless of the site of the lesion. Cytoplasmic BUBR1 has the potential to be used as a marker of tumor progression.
{"title":"Evaluation of BUBR1, MCM2, and GMNN as oral cancer biomarkers.","authors":"Naíza M M Abrahim, Roberta B Cavalcante, Maria Inês de M C Pardini, Silvia H B Rabenhorst, Adriana Camargo Ferrasi","doi":"10.1097/CEJ.0000000000000932","DOIUrl":"10.1097/CEJ.0000000000000932","url":null,"abstract":"<p><p>Oral cancer is a public health problem worldwide. Late diagnosis results in a low survival rate. However, this tumor can arise from oral precancerous lesions and identification of biomarkers in precursor lesions has the potential for early diagnosis, improving patient survival. In this context, proteins involved in the cell cycle control are potentially promising. This study aimed to evaluate the importance of immunohistochemical expression of BUBR1, MCM2, and GMNN as biomarkers of oral carcinogenesis considering different oral sites. Sixty-six samples of oral epithelial dysplasia (from 33 males and 33 females) and 63 samples of oral squamous cell carcinoma (from 44 males and 19 females) were subjected to immunohistochemistry to detect some human proteins. Ki67 expression was included as a marker of cell proliferation. Marker expression was quantified by manually counting at least 1000 cells, and the labeling index was used in all statistical analyses. GMNN, MCM2, BUBR1 (nuclear and cytoplasmic labeling), and Ki67 expression levels were higher in carcinomas than in dysplasia ( P < 0.05). Cytoplasmic BUBR1 was a good marker of malignancy (AUC = 0.8525, P < 0.05), but Ki67 was not (AUC = 0.5943, P = 0.0713). GMNN, MCM2, BUBR1, and Ki67 had higher expression in carcinoma than in dysplasia, regardless of the site of the lesion. Cytoplasmic BUBR1 has the potential to be used as a marker of tumor progression.</p>","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":"378-385"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-07-01Epub Date: 2025-01-07DOI: 10.1097/CEJ.0000000000000949
Luca Bertolaccini, Claudia Bardoni, Giovanni Caffarena, Matteo Chiari, Cristina Diotti, Antonio Mazzella, Lavinia Benini, Francesca Spada, Giovanni Corso, Eleonora Pisa, Monica Casiraghi, Nicola Fazio, Lorenzo Spaggiari
Leading societies have established guidelines that vary significantly regarding recommendations for the surgical management of pulmonary carcinoids (PC). We aimed to assess current guidelines and recommendations for PC surgical management, benchmark their methodological quality, and identify factors that may influence their effectiveness in guiding surgical practice. Literature was sought to identify relevant guidelines for the management of PC. Each guideline was evaluated using the Appraisal of Guidelines for Research and Evaluation (AGREE II) tool and rated on a seven-point scale for items and domains. Five observers assessed four guidelines (developed by ENETS in 2015, ESMO in 2021, NANETS in 2021, and NCCN in 2020). In Scope and Purpose and Stakeholder Involvement, the NCCN guideline achieved the highest score. In Rigor of Development, NANETS and ENETS achieved the highest score. In Clarity of Presentation, ENETS guidelines scored the highest score. For applicability, NCCN received the highest score. All guidelines got the highest score in the Rigor of Development and Clarity of Presentation domains, whereas the Applicability domain received the lowest score. The methodological quality of guidelines on the surgical management of PC varies significantly. The findings underscore the need for future guidelines to prioritize practical implementation in clinical and surgical practice, ensuring that recommendations reflect best practices and effectively meet surgeons' needs. Based on our AGREE II appraisal, the ENETS and ESMO guidelines might be recommended as a model for developing future recommendations and guidelines.
{"title":"Raising the bar: evaluating quality and consistency in clinical guidelines for surgical management of pulmonary carcinoid.","authors":"Luca Bertolaccini, Claudia Bardoni, Giovanni Caffarena, Matteo Chiari, Cristina Diotti, Antonio Mazzella, Lavinia Benini, Francesca Spada, Giovanni Corso, Eleonora Pisa, Monica Casiraghi, Nicola Fazio, Lorenzo Spaggiari","doi":"10.1097/CEJ.0000000000000949","DOIUrl":"10.1097/CEJ.0000000000000949","url":null,"abstract":"<p><p>Leading societies have established guidelines that vary significantly regarding recommendations for the surgical management of pulmonary carcinoids (PC). We aimed to assess current guidelines and recommendations for PC surgical management, benchmark their methodological quality, and identify factors that may influence their effectiveness in guiding surgical practice. Literature was sought to identify relevant guidelines for the management of PC. Each guideline was evaluated using the Appraisal of Guidelines for Research and Evaluation (AGREE II) tool and rated on a seven-point scale for items and domains. Five observers assessed four guidelines (developed by ENETS in 2015, ESMO in 2021, NANETS in 2021, and NCCN in 2020). In Scope and Purpose and Stakeholder Involvement, the NCCN guideline achieved the highest score. In Rigor of Development, NANETS and ENETS achieved the highest score. In Clarity of Presentation, ENETS guidelines scored the highest score. For applicability, NCCN received the highest score. All guidelines got the highest score in the Rigor of Development and Clarity of Presentation domains, whereas the Applicability domain received the lowest score. The methodological quality of guidelines on the surgical management of PC varies significantly. The findings underscore the need for future guidelines to prioritize practical implementation in clinical and surgical practice, ensuring that recommendations reflect best practices and effectively meet surgeons' needs. Based on our AGREE II appraisal, the ENETS and ESMO guidelines might be recommended as a model for developing future recommendations and guidelines.</p>","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":"372-377"},"PeriodicalIF":2.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-18DOI: 10.1097/CEJ.0000000000000980
Mengdi Wang, Jinli Zhang, Xueru Fu, Yamin Ke, Wenkai Zhang, Ge Liu, Xinxin He, Mengna Liu, Yijia Su, Ming Zhang, Fulan Hu, Dongsheng Hu, Yang Zhao
Observational studies indicated that the overall inflammatory potential of diets has been implicated in cancer etiology; however, the results were inconsistent. We aimed to estimate the dose-response association of dietary inflammatory potential with cancer outcomes based on prospective cohort studies. PubMed, Embase and Web of Science databases were searched up to 11 November 2023 for prospective cohort studies. The dietary inflammatory potential was assessed by the dietary inflammatory index (DII) or energy-adjusted DII (E-DII). Pooled relative risks (RRs) and 95% confidence intervals (CIs) were calculated using random-effects models. Restricted cubic splines were used to illustrate the possible linear or nonlinear associations. Ultimately, 30 articles including 33 studies with 4 090 977 participants were included. As compared the highest to the lowest DII category, the pooled RRs (95% CIs) for overall cancer, colorectal cancer, lung cancer, and renal cancer were 1.19 (1.11-1.27), 1.30 (1.16-1.44), 1.13 (1.04-1.23), and 1.45 (1.14-1.83), respectively; for E-DII, the RRs (95% CIs) was 1.08 (1.01-1.16) for overall cancer and 1.23 (1.13-1.33) for colorectal cancer. For each 1-unit increase in DII, the risk increased by 3% (RR = 1.03, 95% CI: 1.02-1.04) for overall cancer, 3% (RR = 1.03, 95% CI: 1.02-1.05) for colorectal cancer, and 7% (RR = 1.07, 95% CI: 1.03-1.12) for renal cancer; for E-DII, the risk increased by 1% (RR = 1.01, 95% CI: 1.00-1.02) for overall cancer and 3% (RR = 1.03, 95% CI: 1.02-1.05) for colorectal cancer. Additionally, restricted cubic splines showed linear relationships of DII (Pnonlinearity = 0.080) and E-DII (Pnonlinearity = 0.273) with overall cancer risk. The higher dietary inflammatory potential was associated with an increased risk of cancer.
{"title":"Dose-response association of dietary inflammatory potential with risk of cancer: systematic review and meta-analysis of prospective cohort studies.","authors":"Mengdi Wang, Jinli Zhang, Xueru Fu, Yamin Ke, Wenkai Zhang, Ge Liu, Xinxin He, Mengna Liu, Yijia Su, Ming Zhang, Fulan Hu, Dongsheng Hu, Yang Zhao","doi":"10.1097/CEJ.0000000000000980","DOIUrl":"https://doi.org/10.1097/CEJ.0000000000000980","url":null,"abstract":"<p><p>Observational studies indicated that the overall inflammatory potential of diets has been implicated in cancer etiology; however, the results were inconsistent. We aimed to estimate the dose-response association of dietary inflammatory potential with cancer outcomes based on prospective cohort studies. PubMed, Embase and Web of Science databases were searched up to 11 November 2023 for prospective cohort studies. The dietary inflammatory potential was assessed by the dietary inflammatory index (DII) or energy-adjusted DII (E-DII). Pooled relative risks (RRs) and 95% confidence intervals (CIs) were calculated using random-effects models. Restricted cubic splines were used to illustrate the possible linear or nonlinear associations. Ultimately, 30 articles including 33 studies with 4 090 977 participants were included. As compared the highest to the lowest DII category, the pooled RRs (95% CIs) for overall cancer, colorectal cancer, lung cancer, and renal cancer were 1.19 (1.11-1.27), 1.30 (1.16-1.44), 1.13 (1.04-1.23), and 1.45 (1.14-1.83), respectively; for E-DII, the RRs (95% CIs) was 1.08 (1.01-1.16) for overall cancer and 1.23 (1.13-1.33) for colorectal cancer. For each 1-unit increase in DII, the risk increased by 3% (RR = 1.03, 95% CI: 1.02-1.04) for overall cancer, 3% (RR = 1.03, 95% CI: 1.02-1.05) for colorectal cancer, and 7% (RR = 1.07, 95% CI: 1.03-1.12) for renal cancer; for E-DII, the risk increased by 1% (RR = 1.01, 95% CI: 1.00-1.02) for overall cancer and 3% (RR = 1.03, 95% CI: 1.02-1.05) for colorectal cancer. Additionally, restricted cubic splines showed linear relationships of DII (Pnonlinearity = 0.080) and E-DII (Pnonlinearity = 0.273) with overall cancer risk. The higher dietary inflammatory potential was associated with an increased risk of cancer.</p>","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-18DOI: 10.1097/CEJ.0000000000000979
Giulia Carreras, Irene Possenti, Maria C Malevolti, Giuseppe Gorini, Silvano Gallus, Alessandra Lugo
Bladder cancer is the 10th most frequently diagnosed cancer worldwide. While tobacco smoking is a well-established risk factor for bladder cancer, the association between second-hand smoke (SHS) exposure and bladder cancer remains less clear. This systematic review and meta-analysis aims to update the evidence on the association between SHS exposure and bladder cancer risk, considering sex differences and exposure settings. By combining an umbrella review and a systematic review, we identified and combined in a meta-analysis all epidemiological studies assessing the association between SHS exposure and bladder cancer risk in nonsmokers, published up until October 2023. Pooled relative risks (RRs) were calculated using random-effects models. Twelve studies (eight case-control and four cohort studies), involving approximately 1200 bladder cancer cases, were included. The overall pooled RR of bladder cancer for SHS exposure was 1.16 [95% confidence interval (CI): 0.95-1.43], with slight differences when considering exposure settings. Results show a low/moderate heterogeneity (I2 = 38%, P = 0.09). Stratified analyses by sex showed no differences in risk of bladder cancer by sex, with an RR of 1.35 (95% CI: 0.86-2.13) in males and 1.31 (95% CI: 0.98-1.73) in females. Higher risks were observed in studies conducted in Africa and Asia. This meta-analysis considering sex differences and different exposure settings shows an increased, despite not statistically significant, association between SHS exposure and bladder cancer risk among nonsmokers. A relatively limited number of cases and studies are currently available on the issue, thus further research with greater statistical power and improved exposure assessment is needed to better clarify the role of SHS exposure in bladder cancer development.
{"title":"Second-hand smoke and bladder cancer risk among nonsmokers: a systematic review and a meta-analysis.","authors":"Giulia Carreras, Irene Possenti, Maria C Malevolti, Giuseppe Gorini, Silvano Gallus, Alessandra Lugo","doi":"10.1097/CEJ.0000000000000979","DOIUrl":"https://doi.org/10.1097/CEJ.0000000000000979","url":null,"abstract":"<p><p>Bladder cancer is the 10th most frequently diagnosed cancer worldwide. While tobacco smoking is a well-established risk factor for bladder cancer, the association between second-hand smoke (SHS) exposure and bladder cancer remains less clear. This systematic review and meta-analysis aims to update the evidence on the association between SHS exposure and bladder cancer risk, considering sex differences and exposure settings. By combining an umbrella review and a systematic review, we identified and combined in a meta-analysis all epidemiological studies assessing the association between SHS exposure and bladder cancer risk in nonsmokers, published up until October 2023. Pooled relative risks (RRs) were calculated using random-effects models. Twelve studies (eight case-control and four cohort studies), involving approximately 1200 bladder cancer cases, were included. The overall pooled RR of bladder cancer for SHS exposure was 1.16 [95% confidence interval (CI): 0.95-1.43], with slight differences when considering exposure settings. Results show a low/moderate heterogeneity (I2 = 38%, P = 0.09). Stratified analyses by sex showed no differences in risk of bladder cancer by sex, with an RR of 1.35 (95% CI: 0.86-2.13) in males and 1.31 (95% CI: 0.98-1.73) in females. Higher risks were observed in studies conducted in Africa and Asia. This meta-analysis considering sex differences and different exposure settings shows an increased, despite not statistically significant, association between SHS exposure and bladder cancer risk among nonsmokers. A relatively limited number of cases and studies are currently available on the issue, thus further research with greater statistical power and improved exposure assessment is needed to better clarify the role of SHS exposure in bladder cancer development.</p>","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-01Epub Date: 2024-09-16DOI: 10.1097/CEJ.0000000000000924
Wei Zhao, Mingxiang Zhang, Bohui Zhu, Yueyin Pan, Yiyuan Sun
Background: We aimed to investigate the clinical and molecular characteristics of different degrees of human epidermal growth factor receptor 2 (HER2) protein expression in HER2-negative breast cancer and the related factors affecting the efficacy of neoadjuvant chemotherapy in HER2-low breast cancer patients.
Methods: The study endpoint was pathological complete remission (PCR). Blood specimens and fresh cancer tissue samples were collected before neoadjuvant chemotherapy for whole-exon sequencing (WES) and RNA sequencing (RNA-seq), and patients were divided into a human epidermal growth factor receptor 2 (HER2)-low group and a HER2-0 group according to their HER2 expression status via bioinformatics analysis.
Results: A total of 409 HER2-negative breast cancer patients were included in the analysis, and HER2 status (HER2-0 vs. HER2-low) was significantly different between hormone receptor status, the Ki-67 index, and the PCR rate. A total of 18 patients who underwent WES and RNA testing were included, and the WES results suggested that the HER2-low group had a significantly higher rate of PIK3CA mutations and a greater frequency of PI3K pathway variants than the other groups and the HER2-low group had a greater number of concomitant mutations and reached statistical significance ( P = 0.03). In terms of expression profiles, HER2-low and HER2-0 patients had different expression profiles. Overall, suggesting that the low PCR rate in the HER2-low group may also be related to chemoresistance.
Conclusion: Our investigation highlights the possibility that HER2-low breast cancer may indicate a unique clinical and biological phenomenon.
背景:我们旨在探讨人表皮生长因子受体2 (HER2)蛋白在HER2阴性乳腺癌中不同程度表达的临床及分子特征,以及影响HER2低水平乳腺癌患者新辅助化疗疗效的相关因素。方法:以病理完全缓解(PCR)为研究终点。在新辅助化疗前采集血液标本和新鲜肿瘤组织标本,进行全外显子测序(WES)和RNA测序(RNA-seq),并根据HER2表达情况进行生物信息学分析,将患者分为人表皮生长因子受体2 (HER2)低表达组和HER2-0组。结果:共纳入409例HER2阴性乳腺癌患者,HER2状态(HER2-0 vs HER2-low)在激素受体状态、Ki-67指数、PCR率之间存在显著差异。我们共纳入了18例进行WES和RNA检测的患者,WES结果显示HER2-low组的PIK3CA突变率和PI3K通路变异频率明显高于其他组,HER2-low组的伴随突变数量较多,差异有统计学意义(P = 0.03)。在表达谱方面,HER2-low和HER2-0患者具有不同的表达谱。总之,提示her2低组的低PCR率也可能与化疗耐药有关。结论:我们的研究强调了her2低乳腺癌可能是一种独特的临床和生物学现象。
{"title":"Molecular and clinical traits of HER2-low breast cancer patients and their relationship with neoadjuvant treatment effectiveness.","authors":"Wei Zhao, Mingxiang Zhang, Bohui Zhu, Yueyin Pan, Yiyuan Sun","doi":"10.1097/CEJ.0000000000000924","DOIUrl":"10.1097/CEJ.0000000000000924","url":null,"abstract":"<p><strong>Background: </strong>We aimed to investigate the clinical and molecular characteristics of different degrees of human epidermal growth factor receptor 2 (HER2) protein expression in HER2-negative breast cancer and the related factors affecting the efficacy of neoadjuvant chemotherapy in HER2-low breast cancer patients.</p><p><strong>Methods: </strong>The study endpoint was pathological complete remission (PCR). Blood specimens and fresh cancer tissue samples were collected before neoadjuvant chemotherapy for whole-exon sequencing (WES) and RNA sequencing (RNA-seq), and patients were divided into a human epidermal growth factor receptor 2 (HER2)-low group and a HER2-0 group according to their HER2 expression status via bioinformatics analysis.</p><p><strong>Results: </strong>A total of 409 HER2-negative breast cancer patients were included in the analysis, and HER2 status (HER2-0 vs. HER2-low) was significantly different between hormone receptor status, the Ki-67 index, and the PCR rate. A total of 18 patients who underwent WES and RNA testing were included, and the WES results suggested that the HER2-low group had a significantly higher rate of PIK3CA mutations and a greater frequency of PI3K pathway variants than the other groups and the HER2-low group had a greater number of concomitant mutations and reached statistical significance ( P = 0.03). In terms of expression profiles, HER2-low and HER2-0 patients had different expression profiles. Overall, suggesting that the low PCR rate in the HER2-low group may also be related to chemoresistance.</p><p><strong>Conclusion: </strong>Our investigation highlights the possibility that HER2-low breast cancer may indicate a unique clinical and biological phenomenon.</p>","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":"241-254"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142983008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-01Epub Date: 2024-12-12DOI: 10.1097/CEJ.0000000000000945
Yujiao Li, Chaosu Hu
Cervical lymph node metastasis (LNM) is an important prognostic factor for hypopharynx squamous cell carcinoma (SCC) patients, which can be detected in a large fraction of clinically diagnosed early hypopharynx SCC patients; however, the importance of knowing the risk of LNM in the younger/older patients has not been well defined. The objective of this study is to assess the effect of age and LNM in T1-2 hypopharynx SCC patients. Patients with T1-2 hypopharynx SCC were extracted from the Surveillance, Epidemiology and End Results database between 2005 and 2014. Univariate and multivariate logistic regression models were produced to recognize the association between age and risk factors of LNM. A total of 1018 patients were analyzed. Older patients have a lower risk of LNM compared with their younger peers ( P < 0.01). In multivariate analyses, older age was associated with a significantly lower risk of LNM. Compared with patients aged 80-93 years old, the hazard ratios for patients aged 31-49, 50-59, 60-69, and 70-79 years old were 2.464 [95% confidence interval (CI): 1.338-4.537], 2.668 (95% CI: 1.638-4.346), 3.192 (95% CI: 1.957-5.205), and 1.564 (95% CI: 0.945-2.588), respectively. Subgroup analysis shows that the effect of older age was significantly associated with a higher risk of LNM in Caucasian male who harbored moderately/poorly differentiated tumors. Our study demonstrates that older patients with T1-2 hypopharynx SCC had a lower risk of LNM than their younger peers, especially males with moderately/poorly differentiated tumors. More accurate assessments of LNM and prophylactic neck dissection or prophylactic adjuvant radiation therapy to the neck will be imperative for reducing recurrence in younger T1-2 hypopharynx SCC.
{"title":"Old age decreases the risk of lymph node metastasis in T1-2 hypopharynx squamous cell carcinoma patients.","authors":"Yujiao Li, Chaosu Hu","doi":"10.1097/CEJ.0000000000000945","DOIUrl":"10.1097/CEJ.0000000000000945","url":null,"abstract":"<p><p>Cervical lymph node metastasis (LNM) is an important prognostic factor for hypopharynx squamous cell carcinoma (SCC) patients, which can be detected in a large fraction of clinically diagnosed early hypopharynx SCC patients; however, the importance of knowing the risk of LNM in the younger/older patients has not been well defined. The objective of this study is to assess the effect of age and LNM in T1-2 hypopharynx SCC patients. Patients with T1-2 hypopharynx SCC were extracted from the Surveillance, Epidemiology and End Results database between 2005 and 2014. Univariate and multivariate logistic regression models were produced to recognize the association between age and risk factors of LNM. A total of 1018 patients were analyzed. Older patients have a lower risk of LNM compared with their younger peers ( P < 0.01). In multivariate analyses, older age was associated with a significantly lower risk of LNM. Compared with patients aged 80-93 years old, the hazard ratios for patients aged 31-49, 50-59, 60-69, and 70-79 years old were 2.464 [95% confidence interval (CI): 1.338-4.537], 2.668 (95% CI: 1.638-4.346), 3.192 (95% CI: 1.957-5.205), and 1.564 (95% CI: 0.945-2.588), respectively. Subgroup analysis shows that the effect of older age was significantly associated with a higher risk of LNM in Caucasian male who harbored moderately/poorly differentiated tumors. Our study demonstrates that older patients with T1-2 hypopharynx SCC had a lower risk of LNM than their younger peers, especially males with moderately/poorly differentiated tumors. More accurate assessments of LNM and prophylactic neck dissection or prophylactic adjuvant radiation therapy to the neck will be imperative for reducing recurrence in younger T1-2 hypopharynx SCC.</p>","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":"285-289"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142881528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Breast cancer is the most common cancer among women. Second primary malignancies (SPMs) related to radiotherapy are significant complications. This study aims to investigate the correlation between radiotherapy and the occurrence of SPMs in breast cancer patients with different estrogen receptor statuses.
Methods: We used data from the Surveillance, Epidemiology, and End Results (SEER) database, selecting estrogen receptor(+) and estrogen receptor(-) breast cancer patients from 1990 to 2015, with SPMs as the outcome measure. Fine-Gray competing risks regression and Poisson regression were employed to analyze the relationship between radiotherapy and the risk of SPMs in different estrogen receptor status groups.
Results: Radiotherapy was associated with an increased risk of lung cancer, melanoma, non-Hodgkin lymphoma, and leukemia in estrogen receptor(+) patients. In estrogen receptor(-) patients, radiotherapy was linked to an increased risk of brain cancer and leukemia. The cumulative incidence, standardized incidence ratio, and subgroup analyses showed consistent results. In the dynamic assessment of radiotherapy-related risks, estrogen receptor(+) patients aged 50-70 exhibited a higher risk of leukemia and melanoma. Lung cancer risk was highest during a latency period of 20-30 years, while melanoma, non-Hodgkin lymphoma, and leukemia risks peaked within the first 10 years. For estrogen receptor(-) patients, brain cancer risk was higher between ages 50 and 70, and leukemia risk was elevated between ages 20 and 50.
Conclusion: Postoperative radiotherapy for breast cancer is associated with an increased risk of SPMs, with risks varying by estrogen receptor status and SPM type. Further research into the prevention of radiotherapy-related SPMs in different estrogen receptor status groups is crucial.
{"title":"Association between radiotherapy and the risk of second primary malignancies in breast cancer patients with different estrogen receptor statuses.","authors":"Chengshan Zhao, Yang Yu, Pi'ao Xiang, Jiahu Liao, Boyang Yu, Yifeng Xing, Guobing Yin","doi":"10.1097/CEJ.0000000000000915","DOIUrl":"10.1097/CEJ.0000000000000915","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is the most common cancer among women. Second primary malignancies (SPMs) related to radiotherapy are significant complications. This study aims to investigate the correlation between radiotherapy and the occurrence of SPMs in breast cancer patients with different estrogen receptor statuses.</p><p><strong>Methods: </strong>We used data from the Surveillance, Epidemiology, and End Results (SEER) database, selecting estrogen receptor(+) and estrogen receptor(-) breast cancer patients from 1990 to 2015, with SPMs as the outcome measure. Fine-Gray competing risks regression and Poisson regression were employed to analyze the relationship between radiotherapy and the risk of SPMs in different estrogen receptor status groups.</p><p><strong>Results: </strong>Radiotherapy was associated with an increased risk of lung cancer, melanoma, non-Hodgkin lymphoma, and leukemia in estrogen receptor(+) patients. In estrogen receptor(-) patients, radiotherapy was linked to an increased risk of brain cancer and leukemia. The cumulative incidence, standardized incidence ratio, and subgroup analyses showed consistent results. In the dynamic assessment of radiotherapy-related risks, estrogen receptor(+) patients aged 50-70 exhibited a higher risk of leukemia and melanoma. Lung cancer risk was highest during a latency period of 20-30 years, while melanoma, non-Hodgkin lymphoma, and leukemia risks peaked within the first 10 years. For estrogen receptor(-) patients, brain cancer risk was higher between ages 50 and 70, and leukemia risk was elevated between ages 20 and 50.</p><p><strong>Conclusion: </strong>Postoperative radiotherapy for breast cancer is associated with an increased risk of SPMs, with risks varying by estrogen receptor status and SPM type. Further research into the prevention of radiotherapy-related SPMs in different estrogen receptor status groups is crucial.</p>","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":"255-263"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-01Epub Date: 2024-11-06DOI: 10.1097/CEJ.0000000000000936
Mattia Intra, Francesca Magnoni, Paolo Della Vigna, Luca Nicosia, Giovanni Mazzarol, Viviana Galimberti, Franco Orsi, Paolo Veronesi
{"title":"Cryoablation of early breast cancer: the challenge towards de-escalation of surgical treatment.","authors":"Mattia Intra, Francesca Magnoni, Paolo Della Vigna, Luca Nicosia, Giovanni Mazzarol, Viviana Galimberti, Franco Orsi, Paolo Veronesi","doi":"10.1097/CEJ.0000000000000936","DOIUrl":"10.1097/CEJ.0000000000000936","url":null,"abstract":"","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":"264-266"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-01Epub Date: 2024-08-05DOI: 10.1097/CEJ.0000000000000914
Clement P Buclin, Martina von Arx, Vladimir Jolidon, José Luis Sandoval, Fabienne Buholzer-Mercier, Justine E Daverio, Bernadette W A van der Linden, Philippe Wanner, Idris Guessous, Delphine S Courvoisier, Stéphane Cullati
Objective: The objective of this study is to examine how the effect of organized mammography screening programs on breast cancer screening participation differ between socioeconomic strata and how this relationship may be modified by the context of linguistic differences. Switzerland, marked by its diverse linguistic landscape, reflects cultural variations alongside differences in public health strategies. The goal of this study was to assess potential socioeconomic differences in regional mammography screening programs effectiveness to improve breast cancer screening participation.
Methods: Data on 14 173 women in the regionally adapted breast cancer screening age range was drawn from five cross-sectional waves of the nationally representative Swiss Health Interview Survey (1997-2017). Socioeconomic indicators included education, household income, and employment status. Poisson regression was used to estimate the adjusted prevalence ratios of up-to-date (last 2 years) mammography uptake. Inequality was assessed using relative index of inequality and the slope index of inequality.
Results: Organized screening programs were generally effective and increased up-to-date mammography uptake by close to 20 percentage points in both regions. While in the Latin cantons, screening programs had no impact on socioeconomic inequalities in screening, it reduced inequalities for women with lower education in the German cantons. This modification effect of screening programs was not seen for income and employment-related inequalities and did not differ across linguistic regions.
Conclusions: Public health agencies should consider the different cultural reception of programs as addressing these differences could help ensure that breast cancer screening initiatives are not only effective, but also culturally equitable across different socioeconomic groups.
研究目的本研究旨在探讨有组织的乳腺 X 射线照相筛查项目对乳腺癌筛查参与率的影响在不同社会经济阶层之间有何差异,以及语言差异会如何改变这种关系。瑞士的语言多样性反映了文化差异和公共卫生策略的差异。本研究的目的是评估地区性乳腺 X 射线照相筛查项目有效性的潜在社会经济差异,以提高乳腺癌筛查的参与率:从具有全国代表性的瑞士健康访谈调查(1997-2017 年)的五次横截面波次中抽取了 14 173 名妇女的数据,这些妇女的年龄在地区调整后的乳腺癌筛查范围内。社会经济指标包括教育程度、家庭收入和就业状况。泊松回归用于估算最新(最近两年)乳腺放射摄影摄取的调整流行率。使用相对不平等指数和不平等斜率指数评估了不平等情况:结果:有组织的筛查项目普遍有效,两个地区的最新乳腺 X 射线照相接受率均提高了近 20 个百分点。在拉丁各州,筛查项目对筛查中的社会经济不平等现象没有影响,但在德国各州,筛查项目减少了教育程度较低妇女的不平等现象。筛查计划对收入和就业相关的不平等现象没有影响,在不同语言地区也没有差异:公共卫生机构应考虑项目的不同文化接受度,因为解决这些差异有助于确保乳腺癌筛查项目不仅有效,而且在不同社会经济群体中具有文化公平性。
{"title":"Linguistic difference in the effect of organized programs on socioeconomic inequalities in breast cancer screening: ecological study in Switzerland.","authors":"Clement P Buclin, Martina von Arx, Vladimir Jolidon, José Luis Sandoval, Fabienne Buholzer-Mercier, Justine E Daverio, Bernadette W A van der Linden, Philippe Wanner, Idris Guessous, Delphine S Courvoisier, Stéphane Cullati","doi":"10.1097/CEJ.0000000000000914","DOIUrl":"10.1097/CEJ.0000000000000914","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study is to examine how the effect of organized mammography screening programs on breast cancer screening participation differ between socioeconomic strata and how this relationship may be modified by the context of linguistic differences. Switzerland, marked by its diverse linguistic landscape, reflects cultural variations alongside differences in public health strategies. The goal of this study was to assess potential socioeconomic differences in regional mammography screening programs effectiveness to improve breast cancer screening participation.</p><p><strong>Methods: </strong>Data on 14 173 women in the regionally adapted breast cancer screening age range was drawn from five cross-sectional waves of the nationally representative Swiss Health Interview Survey (1997-2017). Socioeconomic indicators included education, household income, and employment status. Poisson regression was used to estimate the adjusted prevalence ratios of up-to-date (last 2 years) mammography uptake. Inequality was assessed using relative index of inequality and the slope index of inequality.</p><p><strong>Results: </strong>Organized screening programs were generally effective and increased up-to-date mammography uptake by close to 20 percentage points in both regions. While in the Latin cantons, screening programs had no impact on socioeconomic inequalities in screening, it reduced inequalities for women with lower education in the German cantons. This modification effect of screening programs was not seen for income and employment-related inequalities and did not differ across linguistic regions.</p><p><strong>Conclusions: </strong>Public health agencies should consider the different cultural reception of programs as addressing these differences could help ensure that breast cancer screening initiatives are not only effective, but also culturally equitable across different socioeconomic groups.</p>","PeriodicalId":11830,"journal":{"name":"European Journal of Cancer Prevention","volume":" ","pages":"221-230"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}