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Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study. PTEN错构瘤肿瘤综合征(PHTS)患者的癌症预后和治疗结果-一项欧洲队列研究。
BJC reports Pub Date : 2025-06-04 DOI: 10.1038/s44276-025-00157-y
Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, Robin de Putter, Hilde Brems, Sien H Van Daele, Violetta C Anastasiadou, Lenka Foretová, Patrick R Benusiglio, Anna Gerasimenko, Chrystelle Colas, Marie-Charlotte Villy, Claude Houdayer, Maud Branchaud, Robert Hüneburg, Stefan Aretz, Arne Jahn, Verena Steinke-Lange, Giovanni Innella, Daniela Turchetti, Valeria Barili, Maurizio Genuardi, Arianna Panfili, Margherita Baldassarri, Arvīds Irmejs, Mirjam M de Jong, Thera P Links, Edward M Leter, Daniëlle G M Bosch, Stephany H Donze, Rachel S van der Post, Arjen R Mensenkamp, Harm Westdorp, Hildegunn Høberg-Vetti, Marianne Tveit Haavind, Kjersti Jørgensen, Lovise Mæhle, Siri Briskemyr, Juliette Dupont Garcia, Ana Blatnik, Judith Balmaña, Maite Torres, Joan Brunet, Roser Lleuger-Pujol, Emma Tham, Marc Tischkowitz, D Gareth Evans, Zerin Hyder, Nicoline Hoogerbrugge, Janet R Vos
{"title":"Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.","authors":"Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, Robin de Putter, Hilde Brems, Sien H Van Daele, Violetta C Anastasiadou, Lenka Foretová, Patrick R Benusiglio, Anna Gerasimenko, Chrystelle Colas, Marie-Charlotte Villy, Claude Houdayer, Maud Branchaud, Robert Hüneburg, Stefan Aretz, Arne Jahn, Verena Steinke-Lange, Giovanni Innella, Daniela Turchetti, Valeria Barili, Maurizio Genuardi, Arianna Panfili, Margherita Baldassarri, Arvīds Irmejs, Mirjam M de Jong, Thera P Links, Edward M Leter, Daniëlle G M Bosch, Stephany H Donze, Rachel S van der Post, Arjen R Mensenkamp, Harm Westdorp, Hildegunn Høberg-Vetti, Marianne Tveit Haavind, Kjersti Jørgensen, Lovise Mæhle, Siri Briskemyr, Juliette Dupont Garcia, Ana Blatnik, Judith Balmaña, Maite Torres, Joan Brunet, Roser Lleuger-Pujol, Emma Tham, Marc Tischkowitz, D Gareth Evans, Zerin Hyder, Nicoline Hoogerbrugge, Janet R Vos","doi":"10.1038/s44276-025-00157-y","DOIUrl":"10.1038/s44276-025-00157-y","url":null,"abstract":"<p><strong>Background: </strong>PTEN hamartoma tumour syndrome (PHTS) patients have a high hereditary risk of cancer, especially breast (BC), endometrial (EC), and thyroid cancer (TC). However, the prognosis of PHTS-related cancers is unknown.</p><p><strong>Methods: </strong>This European cohort study included adult PHTS patients with data from medical files, registries, and/or questionnaires. Overall survival (OS) was assessed using Kaplan-Meier analyses and were compared with sporadic cancer and the general population using standardized mortality (SMR) and relative survival rates (RSR). Survival bias was addressed using left-truncation.</p><p><strong>Results: </strong>Overall, 147 BC patients were included. The 10y-OS was 77% (95%CI = 66-90), decreasing with increasing stage from 90% (95%CI = 73-100) for stage 0 to 0% (95%CI = 0-0) for stage IV. BC relative survival was comparable to sporadic BC in the first two years (2y-RSR = 1.1; 95%CI = 1.1-1.1) and increasing thereafter (5y-RSR = 1.7; 95%CI = 1.6-1.7). For TC (N = 56) and EC (N = 35), 10y-OS was 87% (95%CI = 74-100) and 64% (95%CI = 38-100), respectively. Overall and cancer-specific mortality in female PHTS patients exceeded general population rates (SMR = 3.7; 95%CI = 2.6-5.0 and SMR = 2.7; 95%CI = 1.6-4.4).</p><p><strong>Conclusions: </strong>The prognosis of PHTS-related cancers was comparable to the general population. The higher overall mortality in PHTS patients is presumably related to their higher cancer incidence. These findings, and the high survival observed in early-stage cancer, emphasise the importance of recognising PHTS early to facilitate cancer surveillance.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"42"},"PeriodicalIF":0.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Real-world treatment outcomes and clinicopathologic and molecular determinants of response to first-line lenvatinib in patients with advanced follicular cell-derived thyroid cancer. 晚期滤泡细胞源性甲状腺癌患者一线lenvatinib应答的实际治疗结果和临床病理和分子决定因素
BJC reports Pub Date : 2025-06-03 DOI: 10.1038/s44276-025-00153-2
Kara M Ruicci, Yangqing Deng, Tian Xiao, Antoine Eskander, David Goldstein, Ozgur Mete, Aruz Mesci, Jelena Lukovic, Monika K Krzyzanowska, Carly C Barron, Lucy X Ma
{"title":"Real-world treatment outcomes and clinicopathologic and molecular determinants of response to first-line lenvatinib in patients with advanced follicular cell-derived thyroid cancer.","authors":"Kara M Ruicci, Yangqing Deng, Tian Xiao, Antoine Eskander, David Goldstein, Ozgur Mete, Aruz Mesci, Jelena Lukovic, Monika K Krzyzanowska, Carly C Barron, Lucy X Ma","doi":"10.1038/s44276-025-00153-2","DOIUrl":"10.1038/s44276-025-00153-2","url":null,"abstract":"<p><strong>Background: </strong>There is a paucity of real-world data regarding lenvatinib for locally-recurrent, metastatic and RAI-refractory thyroid cancer. Here we examined the efficacy of first-line lenvatinib in a genomically-characterized cohort and identified clinicopathological/molecular correlates of drug response.</p><p><strong>Methods: </strong>Patients with advanced follicular cell-derived thyroid cancer who underwent NGS at Princess Margaret Cancer Centre and commenced first-line lenvatinib monotherapy between 2015-2023 were included. Kaplan-Meier method, log-rank tests and univariable/multivariable proportional hazard models were employed.</p><p><strong>Results: </strong>In total, 77 patients were included (48% female, majority papillary (52%), poorly differentiated (17%) or invasive encapsulated follicular variant papillary (16%)). Most (79%) underwent total thyroidectomy and adjuvant RAI (median cumulative dose 231 mCi). At lenvatinib initiation, median age was 62.9 years, 68% were ECOG performance status ≥2, 81% had lung metastases, 53% had bone metastases and 8% had liver metastases. Most patients started with ≤14 mg of lenvatinib daily. Median time to treatment discontinuation was 33 months. Older age, ECOG ≥ 2, liver metastases and TP53 mutation(s) were associated with shorter time to treatment discontinuation; ECOG ≥ 2 and TP53 mutation(s) remained significant on multivariable analysis.</p><p><strong>Conclusion: </strong>Our findings reinforce the clinical efficacy of lenvatinib in advanced thyroid cancer patients with heterogenous clinicopathologic/molecular features and highlight variables for future treatment stratification.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"41"},"PeriodicalIF":0.0,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12134128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144218468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of recurrences in women diagnosed with early invasive breast cancer using routinely collected data in England. 在英国,使用常规收集的数据确定早期浸润性乳腺癌女性的复发。
BJC reports Pub Date : 2025-05-28 DOI: 10.1038/s44276-025-00154-1
Jake Probert, David Dodwell, John Broggio, Robert Coleman, Helen Marshall, Sarah C Darby, Gurdeep S Mannu
{"title":"Identification of recurrences in women diagnosed with early invasive breast cancer using routinely collected data in England.","authors":"Jake Probert, David Dodwell, John Broggio, Robert Coleman, Helen Marshall, Sarah C Darby, Gurdeep S Mannu","doi":"10.1038/s44276-025-00154-1","DOIUrl":"10.1038/s44276-025-00154-1","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is the commonest cancer in the UK, with around 55,000 women diagnosed annually. Information is routinely available on breast cancer mortality but not on recurrence.</p><p><strong>Methods: </strong>We used a database compiled by the West Midlands Cancer Intelligence Unit during 1997-2011 to develop and train a deterministic algorithm to identify recurrences in routinely collected data (RCD) available within NHS England. We trained the algorithm further using 150 women with stage II-III breast cancer who were recruited into the AZURE trial during 2003-2006 and invited to approximately 24 clinic follow-up visits over ten years. We then evaluated its performance using data for the remaining 1930 women in England in the AZURE trial.</p><p><strong>Results: </strong>The sensitivity of the RCD to detect distant recurrences recorded in the AZURE trial during the ten years following randomisation was 95.6% and its sensitivity to detect any recurrence was 96.6%. The corresponding specificities were 91.9% for distant recurrence and 77.7% for any recurrence.</p><p><strong>Conclusions: </strong>These findings demonstrate the potential of routinely collected data to identify breast cancer recurrences in England. The algorithm may have a role in several settings and make long-term follow-up in randomised trials of breast cancer treatments more cost-effective.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"39"},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12119862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Primary tumour location, molecular alterations, treatments, and outcome in a population-based metastatic colorectal cancer cohort. 以人群为基础的转移性结直肠癌队列的原发肿瘤位置、分子改变、治疗和结果。
BJC reports Pub Date : 2025-05-28 DOI: 10.1038/s44276-025-00156-z
Emerik Osterlund, Klara Hammarström, Luís Nunes, Lucy Mathot, Artur Mezheyeuski, Tobias Sjöblom, Bengt Glimelius
{"title":"Primary tumour location, molecular alterations, treatments, and outcome in a population-based metastatic colorectal cancer cohort.","authors":"Emerik Osterlund, Klara Hammarström, Luís Nunes, Lucy Mathot, Artur Mezheyeuski, Tobias Sjöblom, Bengt Glimelius","doi":"10.1038/s44276-025-00156-z","DOIUrl":"10.1038/s44276-025-00156-z","url":null,"abstract":"<p><strong>Background: </strong>Metastatic colorectal cancer (mCRC) patients in trials are selected. The aim was to study mCRC features population-based.</p><p><strong>Methods: </strong>All 765 mCRC patients in the Uppsala region, Sweden, 2010-2020 were identified and analysed for RAS (n = 356/708) and BRAF-V600E (n = 123/708) mutations (mt) and deficient mismatch repair (dMMR, n = 58/643).</p><p><strong>Results: </strong>Right colon primary tumours were associated with BRAF-V600Emt and dMMR and had worse median overall survival (mOS) than left colon or rectal mCRC. RAS&BRAF wildtype (wt) and proficient MMR were seen in 22%, 45%, and 31% of right colon, left colon, and rectum, respectively. Patients with right colon primaries received best supportive care only more often (34% vs 25% vs 24%) and metastasectomy less often (21% vs 31% vs 33%) than left colon and rectal primaries. In molecularly homogeneous subgroups (RAS&BRAFwt/RASmt/BRAF-V600Emt/dMMR) no difference in mOS were seen between right and left colon primaries, whereas rectal primaries had better mOS (26/15/8/9 vs 24/21/8/8 vs 32/23/6/NA months, respectively). This was also the case in homogenous treatment groups. Primary tumour location turned non-significant in multivariable OS analyses.</p><p><strong>Conclusions: </strong>The high variation of BRAF-V600Emt, RASmt, dMMR, and treatment allocation population-based per primary tumour location explain the poor outcome in right-sided cancers.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"38"},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12120107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
B cells and tertiary lymphoid structures in cancer therapy response. B细胞和三级淋巴结构在癌症治疗反应中的作用。
BJC reports Pub Date : 2025-05-28 DOI: 10.1038/s44276-025-00146-1
Adèle Hegoburu, Mohammad Amer, Frank Frizelle, Rachel Purcell
{"title":"B cells and tertiary lymphoid structures in cancer therapy response.","authors":"Adèle Hegoburu, Mohammad Amer, Frank Frizelle, Rachel Purcell","doi":"10.1038/s44276-025-00146-1","DOIUrl":"10.1038/s44276-025-00146-1","url":null,"abstract":"<p><p>Recent advances in immuno-oncology research have revolutionised our understanding of the interplay between immune cells and the tumour microenvironment (TME), profoundly impacting patient responses to therapy. The TME, comprising tumour cells, immune cells, extracellular matrix, stromal cells, and co-existing microbes, orchestrates the immune phenotype of cancers, shaping disease progression and treatment outcomes. Immune-cell infiltration serves as a significant prognostic marker in various cancers, with higher rates correlating with improved prognosis. Recent discoveries have paved the way for immune checkpoint blockade therapies, which exhibit remarkable efficacy across multiple cancer types. However, understanding the nuanced contributions of different immune-cell populations to therapeutic responses remains a challenge. The majority of research has focussed on the role of T cells in the immune response to cancer therapies, with the potential importance of B cells only recently being recognised. Here, we review the diverse phenotypes of B cells within the TME, their structural organisation within tertiary lymphoid structures (TLS), and the role of both B cells and TLS in cancer prognosis and response to different therapies for cancer treatment.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"40"},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12119954/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Single-cell analysis reveals tumour size as a key driver of immune cell profile alterations in primary breast tumours and corresponding lymph nodes. 单细胞分析显示,肿瘤大小是原发性乳腺肿瘤和相应淋巴结免疫细胞谱改变的关键驱动因素。
BJC reports Pub Date : 2025-05-20 DOI: 10.1038/s44276-025-00152-3
Marit Otterlei Fjørtoft, Øystein Garred, Ole Christian Lingjærde, Karin Teien Lande, Lars Ottestad, Inger Riise Bergheim, Jon Lømo, Colin LaMont, June Helen Myklebust, Hege Russnes, Kanutte Huse, Inga Hansine Rye
{"title":"Single-cell analysis reveals tumour size as a key driver of immune cell profile alterations in primary breast tumours and corresponding lymph nodes.","authors":"Marit Otterlei Fjørtoft, Øystein Garred, Ole Christian Lingjærde, Karin Teien Lande, Lars Ottestad, Inger Riise Bergheim, Jon Lømo, Colin LaMont, June Helen Myklebust, Hege Russnes, Kanutte Huse, Inga Hansine Rye","doi":"10.1038/s44276-025-00152-3","DOIUrl":"https://doi.org/10.1038/s44276-025-00152-3","url":null,"abstract":"<p><strong>Background: </strong>At diagnosis, 30-40% of women with breast cancer have metastases in sentinel (SN) or axillary lymph nodes (ALN). Nodal status is a strong prognostic factor and guides treatment decisions. Immune checkpoint inhibition has shown some efficacy, which can increase in the neoadjuvant setting. A better understanding of how tumour cells in primary tumours and metastatic lymph nodes shape the local immune microenvironment may provide clues for more individualized therapeutic interventions.</p><p><strong>Methods: </strong>We conducted deep immunophenotypic analysis of 29 primary breast tumours and 36 lymph nodes from 38 patients with primary operable breast cancer.</p><p><strong>Results: </strong>The immune profile of the primary tumour was not predictive of the lymph node immune profile or metastatic status. Primary tumours showed prominent CD8 T cell exhaustion and activated regulatory T cells, and the frequencies of these subsets were associated with tumour size. The immune cell profile in lymph nodes were different from the profile in primary tumours, except for the ALN+ nodes, which displayed a T-cell profile more similar to primary tumours. The frequencies of the T cell subsets in lymph nodeswere associated with metastatic size. Tumour cells from smaller metastases exhibited a distinct phenotype compared to those from larger tumour deposits, and the size of the tumour cell deposit impacted the local immune cell composition.</p><p><strong>Conclusion: </strong>The tumour size of primary tumours and metastatic size in lymph nodes are the main drivers of changes in immune cell composition.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"35"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Stereotactic ablative radiotherapy for patients with hepatocellular carcinoma: analysis of post-treatment radiology and explant histology. 立体定向消融放疗治疗肝癌:放疗后放射学及外植体组织学分析。
BJC reports Pub Date : 2025-05-20 DOI: 10.1038/s44276-025-00136-3
Nekisa Zakeri, Ramanivas Sundareyan, Owen Cain, James Good, Tahir Shah, Shishir Shetty
{"title":"Stereotactic ablative radiotherapy for patients with hepatocellular carcinoma: analysis of post-treatment radiology and explant histology.","authors":"Nekisa Zakeri, Ramanivas Sundareyan, Owen Cain, James Good, Tahir Shah, Shishir Shetty","doi":"10.1038/s44276-025-00136-3","DOIUrl":"10.1038/s44276-025-00136-3","url":null,"abstract":"<p><strong>Background: </strong>Stereotactic ablative radiotherapy (SABR) has emerged as a new treatment modality for hepatocellular carcinoma (HCC). Evaluation of tumour responses following SABR are currently based on conventional radiological criteria used for locoregional therapies. Whether these criteria accurately reflect tumour responses following SABR remains unknown. In this study, we provide a direct comparison of post-SABR radiological evaluation and explant histology for patients with HCC who underwent bridging SABR prior to liver transplantation.</p><p><strong>Methods: </strong>Patients with HCC who received SABR as bridging therapy prior to liver transplantation (January 2016-December 2022) in a large UK liver transplant centre were included. Post-SABR imaging was reported by two specialist hepato-pancreato-biliary radiologists, and histological examination of the explanted liver was performed by experienced liver histopathologists.</p><p><strong>Results: </strong>Six patients with residual active HCC received SABR as bridging therapy prior to undergoing liver transplantation in our cohort. Of five patients with viable HCC detected on explant histology, recent radiological evaluation using LI-RADS treatment response criteria had suggested no evidence of residual active HCC for three patients, difficulty delineating residual disease from post-radiotherapy changes for one patient, and accurately identified viable tumour in one patient.</p><p><strong>Conclusion: </strong>In our case series conventional radiological criteria underestimated HCC tumour viability following SABR compared to explant histology. As the role for SABR expands in the management of HCC, caution is needed with radiological interpretation of HCC responses to radiotherapy using standard LI-RADS criteria. Prospective study in a larger cohort is required to identify radiological criteria capable of more conclusively evaluating HCC responses to SABR.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"36"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144113306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Next-generation sequencing outperforms Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in endometrial cancer molecular classification. 新一代测序在子宫内膜癌分子分类中优于前瞻性分子风险分类器(Proactive Molecular Risk Classifier for endomecancer, ProMisE)。
BJC reports Pub Date : 2025-05-20 DOI: 10.1038/s44276-025-00145-2
Takuma Yoshimura, Kohei Nakamura, Tatsuyuki Chiyoda, Reika Takamatsu, Ryutaro Kawano, Eriko Aimono, Miho Kawaida, Kensuke Sakai, Yohei Masugi, Hiroshi Nishihara, Wataru Yamagami
{"title":"Next-generation sequencing outperforms Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in endometrial cancer molecular classification.","authors":"Takuma Yoshimura, Kohei Nakamura, Tatsuyuki Chiyoda, Reika Takamatsu, Ryutaro Kawano, Eriko Aimono, Miho Kawaida, Kensuke Sakai, Yohei Masugi, Hiroshi Nishihara, Wataru Yamagami","doi":"10.1038/s44276-025-00145-2","DOIUrl":"10.1038/s44276-025-00145-2","url":null,"abstract":"<p><strong>Background: </strong>We aimed to compare the values of next-generation sequencing (NGS) and Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) in redefining the molecular classification of endometrial cancer (EC).</p><p><strong>Methods: </strong>We investigated the relationship between clinical outcomes and molecular subtypes of POLE, microsatellite instability-high (MSI-H), copy number low (CN-L), and copy number high (CN-H) classified by cancer gene panel testing for 145 cancer-related genes, as well as the immunohistochemical status of p53 and mismatch repair genes, in 200 cases of EC.</p><p><strong>Results: </strong>The NGS-based classification identified CN-L subtype as the most prevalent (104/200, 52.0%), followed by MSI-H (38/200, 19.0%), POLE (33/200, 16.5%), and CN-H (25/200, 12.5%). Overall survival differed significantly for the four subtypes based on the NGS (p = 0.006) but not on the ProMisE (p = 0.117) classification. Additional mutations were identified for some POLE subtypes beyond the known hotspots, with 18.2% (6 of 33) showing concurrent MSI-H. Immunohistochemistry showed a p53 wild-type pattern for 12 (48%) CN-H cases, and there was no significant difference in prognosis depending on the p53 status in the CN-H subtype.</p><p><strong>Conclusions: </strong>NGS surpassed ProMisE in EC molecular classification, offering precise stratification and prognostication. Our NGS platform has the potential to contribute to personalized treatment in EC.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"37"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144113304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deep learning-based interpretable prediction of recurrence of diffuse large B-cell lymphoma. 基于深度学习的弥漫性大b细胞淋巴瘤复发可解释性预测。
BJC reports Pub Date : 2025-05-20 DOI: 10.1038/s44276-025-00147-0
Hussein Naji, Paul Hahn, Juan I Pisula, Stefano Ugliano, Adrian Simon, Reinhard Büttner, Katarzyna Bozek
{"title":"Deep learning-based interpretable prediction of recurrence of diffuse large B-cell lymphoma.","authors":"Hussein Naji, Paul Hahn, Juan I Pisula, Stefano Ugliano, Adrian Simon, Reinhard Büttner, Katarzyna Bozek","doi":"10.1038/s44276-025-00147-0","DOIUrl":"10.1038/s44276-025-00147-0","url":null,"abstract":"<p><strong>Background: </strong>The heterogeneous and aggressive nature of diffuse large B-cell lymphoma (DLBCL) presents significant treatment challenges as up to 50% of patients experience recurrence of disease after chemotherapy. Upfront detection of recurring patients could offer alternative treatments. Deep learning has shown potential in predicting recurrence of various cancer types but suffers from lack of interpretability. Particularly in prediction of recurrence, an understanding of the model's decision could eventually result in novel treatments.</p><p><strong>Methods: </strong>We developed a deep learning-based pipeline to predict recurrence of DLBCL based on histological images of a publicly available cohort. We utilized attention-based classification to highlight areas within the images that were of high relevance for the model's classification. Subsequently, we segmented the nuclei within these areas, calculated morphological features, and statistically analyzed them to find differences between recurred and non-recurred patients.</p><p><strong>Results: </strong>We achieved an f1 score of 0.88 indicating that our model can distinguish non-recurred from recurred patients. Additionally, we found that features that are the most predictive of recurrence include large and irregularly shaped tumor cell nuclei.</p><p><strong>Discussion: </strong>Our work underlines the value of histological images in predicting treatment outcomes and enhances our understanding of complex biological processes in aggressive, heterogeneous cancers like DLBCL.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"34"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144113257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessing the risk of second primary lung cancer in women after previous breast cancer. 评估女性在既往乳腺癌后发生第二原发性肺癌的风险。
BJC reports Pub Date : 2025-05-15 DOI: 10.1038/s44276-025-00151-4
Yuanhui Huang, Jenny J Lin, Juan P Wisnivesky, Chung Yin Kong, Keith Sigel
{"title":"Assessing the risk of second primary lung cancer in women after previous breast cancer.","authors":"Yuanhui Huang, Jenny J Lin, Juan P Wisnivesky, Chung Yin Kong, Keith Sigel","doi":"10.1038/s44276-025-00151-4","DOIUrl":"10.1038/s44276-025-00151-4","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer (BC) survivors may be at increased risk of developing second cancers compared to those without BC diagnosis due to shared risk factors and potential carcinogenic effects of cancer therapy. Lung cancer (LC) is the most common second primary cancer among BC survivors. This study aimed to evaluate the association between BC and the subsequent incidence of LC.</p><p><strong>Methods: </strong>Women aged 55-74 were identified from the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial. The risk of incident LC was compared by BC status using a multivariable Cox regression model with BC and smoking exposures incorporated as time-updated variables.</p><p><strong>Results: </strong>75,951 females from the PLCO trial were identified, with 5808 diagnosed with BC after enrollment. The unadjusted incidence rate (IR) of the second LC was significantly higher among BC survivors than non-BC participants (231 vs. 172 per 100,000 person-years). The adjusted hazard ratio (HR) for the second primary LC associated with BC diagnosis was 1.24 (95% CI: 1.03-1.49).</p><p><strong>Conclusions: </strong>BC diagnosis was an independent risk factor for the development of second primary LC. Consequently, BC survivors may derive benefits from enhanced LC screening interventions.</p>","PeriodicalId":519964,"journal":{"name":"BJC reports","volume":"3 1","pages":"33"},"PeriodicalIF":0.0,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12081664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144083097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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