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MLH1 promoter hypermethylation and Lynch Syndrome: When to test for constitutional epimutations of MLH1 gene? MLH1启动子超甲基化与Lynch综合征:何时检测MLH1基因的体质变异?
IF 2 4区 医学
Tumori Pub Date : 2025-01-20 DOI: 10.1177/03008916241312530
Laura Cazzaniga, Cristina Zanzottera, Sara Mannucci, Francesca Fava, Monica Marabelli, Mariarosaria Calvello, Irene Feroce, Matilde Risti, Eliza Del Fiol Manna, Lucio Bertario, Davide Serrano, Bernardo Bonanni
{"title":"<i>MLH1</i> promoter hypermethylation and Lynch Syndrome: When to test for constitutional epimutations of <i>MLH1</i> gene?","authors":"Laura Cazzaniga, Cristina Zanzottera, Sara Mannucci, Francesca Fava, Monica Marabelli, Mariarosaria Calvello, Irene Feroce, Matilde Risti, Eliza Del Fiol Manna, Lucio Bertario, Davide Serrano, Bernardo Bonanni","doi":"10.1177/03008916241312530","DOIUrl":"https://doi.org/10.1177/03008916241312530","url":null,"abstract":"<p><p>Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional <i>MLH1</i> promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome. Universal Tumor Screening, performed on tumoral specimens to identify features suggestive of Lynch syndrome, shows the same features both in the case of sporadic cancers and Lynch syndrome-cancers due to a constitutional <i>MLH1</i> methylation: microsatellite instability, deficiency of MisMatch Repair proteins, and methylation of <i>MLH1</i> gene. Over the last few years, identifying methylation of <i>MLH1</i> promoter on tumors was used to discern sporadic tumors from Lynch syndrome tumors: the methylation of the <i>MLH1</i> promoter was usually explained as a somatic event and this could lead to a missed diagnosis of some Lynch syndrome cases. Therefore, establishing criteria to decide when to test patients for constitutional <i>MLH1</i> methylation is urgent. In the case of microsatellite instability/deficiency of MisMatch Repair tumors with <i>MLH1</i> methylation, a germline genetic test could be requested for all colorectal cancer patients aged 55 years or younger and all endometrial cancer patients younger than 50 years old, independently from family history. The prevalence of germline <i>MLH1</i> epimutations is not precisely known and possibly underestimated. The associated cancer risk could be similar to that due to a <i>MLH1</i> sequence variant. <i>MLH1</i> epimutations could be secondary to other genetic defects and follow an autosomal dominant inheritance. On the contrary, primary epimutations are often \"<i>de novo</i>\" events, and their transmission does not follow Mendelian rules.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241312530"},"PeriodicalIF":2.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012446","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}
引用次数: 0
Factors influencing the colorectal surveillance adherence in Lynch Syndrome: A retrospective monocentric study. 影响Lynch综合征结肠直肠监测依从性的因素:一项回顾性单中心研究。
IF 2 4区 医学
Tumori Pub Date : 2024-12-26 DOI: 10.1177/03008916241308119
Davide Ferrari, Emanuele Rausa, Sara Lauricella, Clorinda Brignola, Antonio Zaccara, Stefano Signoroni, Maria Teresa Ricci
{"title":"Factors influencing the colorectal surveillance adherence in Lynch Syndrome: A retrospective monocentric study.","authors":"Davide Ferrari, Emanuele Rausa, Sara Lauricella, Clorinda Brignola, Antonio Zaccara, Stefano Signoroni, Maria Teresa Ricci","doi":"10.1177/03008916241308119","DOIUrl":"https://doi.org/10.1177/03008916241308119","url":null,"abstract":"<p><strong>Background: </strong>Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.</p><p><strong>Methods: </strong>Data from the Hereditary Digestive Tumors Registry at Fondazione IRCCS Istituto Nazionale dei Tumori of Milan from 1995 to 2018 were analyzed. The study included 397 LS patients, as categorized based on adherence to surveillance. Statistical analyses, including multivariable logistic regression, were employed to identify factors influencing adherence.</p><p><strong>Results: </strong>Out of 397 LS patients, 305 (76.8%) completed surveillance, and 92 (23.2%) were lost during surveillance. Fifty-two patients developed colorectal cancer during the surveillance: 34 among patients who completed the surveillance and 18 among those who did not (p<0.036). Factors positively influencing adherence included genetic counseling and higher education, while the distance from the referral center had a negative impact. The survival rate was 83.5% at 240-months.</p><p><strong>Conclusions: </strong>This study emphasizes the importance of adhering to a regular colorectal surveillance program for LS individuals. Genetic counseling and higher education emerged as a crucial factor positively affecting adherence. The negative impact was observed for geographical distance from the referral center.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241308119"},"PeriodicalIF":2.0,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898496","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}
引用次数: 0
Risk-based breast cancer screening: What are the challenges? 基于风险的乳腺癌筛查:挑战是什么?
IF 2 4区 医学
Tumori Pub Date : 2024-12-19 DOI: 10.1177/03008916241306971
Isabel T Rubio, Caroline A Drukker, Antonio Esgueva
{"title":"Risk-based breast cancer screening: What are the challenges?","authors":"Isabel T Rubio, Caroline A Drukker, Antonio Esgueva","doi":"10.1177/03008916241306971","DOIUrl":"https://doi.org/10.1177/03008916241306971","url":null,"abstract":"<p><p>Population-based screening programs aim to detect the disease at an early stage, so less treatment will be needed as well as having better oncological outcomes when diagnosed earlier. In the majority of European countries, breast cancer screening programs are designed based on women age.Meta-analysis of randomized clinical trial data demonstrates a reduction in the relative risk of breast cancer mortality due to screening, which has been estimated to be approximately 20%.One of the controversies about the population breast screening programs is that age-based screening ignores women's individual breast cancer risk. Identification of high-risk women may intensify the screening measures and will optimize the population screening programs to align them to individual risks.Family history of breast cancer is one of the risk factors to consider along with the recently developed polygenic risk scores to stratify women into a risk group. Other factors to assess risk include: mammographic breast density; B3 lesions with atypia in breast biopsy specimens; hormonal and lyfestyle and, potentially, epigenetic markers. Still, there are some difficulties in validating these factors and reflecting the interaction between risk factors in the models.Ongoing screening trials (e.g., WISDOM and MyPebs) are currently evaluating the clinical acceptability and utility of risk-stratified screening programs in the general population, and should provide valuable information for the possible implementation of such programs.Communication of complex risk information to the women, as well as assessing ethical concerns need to be addressed before implementation of risk stratified programs.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241306971"},"PeriodicalIF":2.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855595","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}
引用次数: 0
Combined CAR-T/HSCT approach in a patient with refractory acute lymphoblastic leukemia and cystic fibrosis. CAR-T/HSCT联合治疗难治性急性淋巴细胞白血病合并囊性纤维化1例。
IF 2 4区 医学
Tumori Pub Date : 2024-12-17 DOI: 10.1177/03008916241301912
Benedetta E Di Majo, Francesca Vendemini, Sonia Bonanomi, Pietro Casartelli, Sara Napolitano, Giorgio Ottaviano, Giulia Prunotto, Marta Verna, Alessandra Sala, Guglielmo M Migliorino, Francesco Petrella, Lorenzo Rosso, Laura Claut, Paola Rafaniello Raviele, Carmelo Rizzari, Andrea Biondi, Adriana Balduzzi, Giovanna Lucchini
{"title":"Combined CAR-T/HSCT approach in a patient with refractory acute lymphoblastic leukemia and cystic fibrosis.","authors":"Benedetta E Di Majo, Francesca Vendemini, Sonia Bonanomi, Pietro Casartelli, Sara Napolitano, Giorgio Ottaviano, Giulia Prunotto, Marta Verna, Alessandra Sala, Guglielmo M Migliorino, Francesco Petrella, Lorenzo Rosso, Laura Claut, Paola Rafaniello Raviele, Carmelo Rizzari, Andrea Biondi, Adriana Balduzzi, Giovanna Lucchini","doi":"10.1177/03008916241301912","DOIUrl":"https://doi.org/10.1177/03008916241301912","url":null,"abstract":"<p><strong>Introduction: </strong>The association of acute lymphoblastic leukaemia (ALL) and cystic fibrosis (CF) is rare. We present the case of a paediatric patient affected by CF and refractory B-cell precursor (BCP) ALL, who was treated with combined chimeric antigen receptor T-cells (CAR-T) and allogeneic haematopoietic stem cell transplantation (HSCT).</p><p><strong>Case description: </strong>Autologous-CD19 targeting CAR-T allowed to achieve molecular remission and spare chemo-related toxicity. As B-cell aplasia was not achieved, the patient underwent HSCT after total body irradiation (TBI)-based conditioning. The course after HSCT was complicated by veno-occlusive disease, status epileptic and pulmonary invasive fungal infection which showed progressive radiological worsening despite aggressive treatment. Five months after HSCT a left upper lobe lobectomy was successfully performed. Thirteen months after HSCT the patient is in complete disease remission with normal lung function.</p><p><strong>Conclusions: </strong>CAR-T cell therapy bridge-to-HSCT may be an effective approach in paediatric refractory ALL in the context of multiple comorbidities as observed in CF.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241301912"},"PeriodicalIF":2.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142839678","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}
引用次数: 0
Four pathogenic variants co-occurring in a MINAS early-onset breast cancer. 四种致病变异共同发生在MINAS早发性乳腺癌。
IF 2 4区 医学
Tumori Pub Date : 2024-12-11 DOI: 10.1177/03008916241301368
Davide Bondavalli, Mario Urtis, Maurizia Grasso, Carmela Giorgianni, Chiara Cassani, Adele Sgarella, Alberta Ferrari, Gianpiero Rizzo, Eloisa Arbustini
{"title":"Four pathogenic variants co-occurring in a MINAS early-onset breast cancer.","authors":"Davide Bondavalli, Mario Urtis, Maurizia Grasso, Carmela Giorgianni, Chiara Cassani, Adele Sgarella, Alberta Ferrari, Gianpiero Rizzo, Eloisa Arbustini","doi":"10.1177/03008916241301368","DOIUrl":"https://doi.org/10.1177/03008916241301368","url":null,"abstract":"<p><strong>Introduction: </strong>Multilocus Inherited Neoplasia Allele Syndrome (MINAS) is a condition defined by the presence of germline pathogenic variants in more than one Cancer Susceptibility Gene (CSG). MINAS is still underreported in the literature and public databases. Since MINAS-related phenotypes are difficult to predict, case descriptions may contribute to risk assessment, treatment, and personalized surveillance for proband and relatives.</p><p><strong>Case description: </strong>Here we report a unique case of early onset, bifocal, non-Triple Negative breast cancer in a 31-year-old woman. Fast metastatic dissemination involving the brain caused the death of the patient in a few months. Her multigene panel testing showed the co-occurrence of pathogenic variants in <i>PALB2</i> (c.1221del; p.Thr408fs*40), <i>ATM</i> (c.8545C>T; p.Arg2849*), <i>PMS2</i> (c.1919C>A; p.Ser640*), and <i>MUTYH</i> (c.1103G>A; p.Gly368Asp). The patient inherited the <i>ATM</i> and <i>MUTYH</i> variants from the mother, and <i>PALB2</i> and <i>PMS2</i> variants from the father. The brother inherited the maternal <i>ATM</i> and paternal <i>PMS2</i> variants. A baseline imaging-based family screening excluded malignancies in both parents and in the brother. Tailored monitoring is ongoing based on the risk predicted by pathogenic variants identified in family members.</p><p><strong>Conclusions: </strong>Currently, there are no predictive tools available to determine organ-specific cancer risk in MINAS patients. Given the uncertainty in predicting the phenotypic effect of multiple variants in CSGs, ongoing clinical surveillance and sharing data from complex cases are crucial for improving risk stratification in this condition.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241301368"},"PeriodicalIF":2.0,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814188","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}
引用次数: 0
Is tumour sequencing effective for the identification of germline BRCA1/2 pathogenic variant carriers? 肿瘤测序对鉴定种系 BRCA1/2 致病变异携带者有效吗?
IF 2 4区 医学
Tumori Pub Date : 2024-12-09 DOI: 10.1177/03008916241280127
Jacopo Azzollini, Iolanda Capone, Matteo Duca, Andrea Vingiani, Alberta Piccolo, Luca Agnelli, Elena Tamborini, Federica Perrone, Bernard Peissel, Daniele Lorenzini, Silvia Damian, Claudio Vernieri, Giulia Valeria Bianchi, Mara Mantiero, Monika Ducceschi, Maggie Polignano, Monica Niger, Federico Nichetti, Claudia Proto, Marta Brambilla, Elena Colombo, Marco Stellato, Elena Conca, Adele Busico, Siranoush Manoukian
{"title":"Is tumour sequencing effective for the identification of germline <i>BRCA1/2</i> pathogenic variant carriers?","authors":"Jacopo Azzollini, Iolanda Capone, Matteo Duca, Andrea Vingiani, Alberta Piccolo, Luca Agnelli, Elena Tamborini, Federica Perrone, Bernard Peissel, Daniele Lorenzini, Silvia Damian, Claudio Vernieri, Giulia Valeria Bianchi, Mara Mantiero, Monika Ducceschi, Maggie Polignano, Monica Niger, Federico Nichetti, Claudia Proto, Marta Brambilla, Elena Colombo, Marco Stellato, Elena Conca, Adele Busico, Siranoush Manoukian","doi":"10.1177/03008916241280127","DOIUrl":"10.1177/03008916241280127","url":null,"abstract":"<p><strong>Introduction: </strong>Tumour <i>BRCA1</i>/2 sequencing has progressively increased along with the expanding indications for poly(ADP-ribose) polymerase inhibitors. In our study, we investigated the feasibility and outcomes of a workflow for the identification of germline carriers based on tumour sequencing results.</p><p><strong>Methods: </strong>Between April 2020 and December 2022, <i>BRCA1/2</i> tumour testing results from 2020 patients were reviewed. Analysed tumours included: 323 ovarian, 104 breast, 314 pancreas-biliary, 87 prostate, 374 gastrointestinal, 309 lung, and 509 less common histologies. Testing was performed through small (only <i>BRCA1/2</i>, 16%) or comprehensive (>50 genes) next-generation sequencing panels (84%). Patients with pathogenic/likely pathogenic variants were referred for genetic counselling and germline testing.</p><p><strong>Results: </strong>Tumour <i>BRCA1/2</i> pathogenic variants were identified in 145 patients (7%). The pathogenic variant frequency ranged between 23% (75/323 ovarian) and 3.5% (11/314 pancreas-biliary). The highest frequency was observed in high-grade ovarian carcinomas (27%, 64/235). By 30 June 2023, 79 out of 145 patients (54%) underwent subsequent genetic counselling and germline testing. In these patients, mostly affected with ovarian carcinoma (67%, 53/79), 48 were confirmed germline pathogenic variants (61%).</p><p><strong>Conclusions: </strong>In our tumour-to-germline testing approach, we observed the <i>BRCA1/2</i> pathogenic variant frequency reported in other large unselected ovarian cancer cohorts, thus confirming its effectiveness in identifying putative germline carriers irrespective of eligibility for germline testing. As the range of tumours subjected to genetic testing broadens, this approach is expected to also be effective in other tumour settings for enhancing the identification of carriers, reducing the burden on genetic services, and avoiding unnecessary concerns related to germline testing.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241280127"},"PeriodicalIF":2.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296471","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}
引用次数: 0
Evaluation of a combined model of Polygenic Risk Score and mismatch repair genes in the association of colorectal cancer for Norwegian cohort. 多基因风险评分和错配修复基因联合模型在结直肠癌挪威队列中的评价。
IF 2 4区 医学
Tumori Pub Date : 2024-12-09 DOI: 10.1177/03008916241303648
Bayram C Akdeniz, Andrew H Morris, Pål Møller, Ole Andreassen, Eivind Hovig, Mev Dominguez-Valentin
{"title":"Evaluation of a combined model of Polygenic Risk Score and mismatch repair genes in the association of colorectal cancer for Norwegian cohort.","authors":"Bayram C Akdeniz, Andrew H Morris, Pål Møller, Ole Andreassen, Eivind Hovig, Mev Dominguez-Valentin","doi":"10.1177/03008916241303648","DOIUrl":"https://doi.org/10.1177/03008916241303648","url":null,"abstract":"<p><strong>Background and aims: </strong>Recent studies have shown that combining polygenic risk score (PRS) and carrier status for germline pathogenic variants in colorectal cancer (CRC) susceptibility genes (e.g. <i>MLH1, MSH2, MSH6, PMS2</i>) may increase the success of predicting CRC. This study aims to examine the prediction performance of CRC in Norwegian data using the status of pathogenic variants in the mismatch repair (MMR) genes with the available PRS models in the literature.</p><p><strong>Methods: </strong>Our Norwegian cohort included 805 CRC cases, 86 of which carried a pathogenic variant in one of the MMR genes. As a control group, we included 8856 individuals without a cancer diagnosis, of which 179 were carriers for a pathogenic MMR variant. We first conducted a broad experiment to determine the best-performing PRS model for the Norwegian cohort. Afterwards, we established a combined analysis with the PRS model and the status of MMR genes.</p><p><strong>Results: </strong>Among 10 PRS models tested, the best-performing PRS model for the Norwegian cohort included 204 single nucleotide polymorphisms (SNPs) (AUC=0.604). We also observed that the combined model of PRS and the status of MMR significantly improved the prediction performance.</p><p><strong>Conclusion: </strong>The findings suggest that a combined model of a PRS and the status of MMR genes improves the prediction performance of CRC in Norwegian data.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241303648"},"PeriodicalIF":2.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802293","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}
引用次数: 0
Practices and views about palliative care at the end of life: A survey of oncologists from the Italian region of Liguria. 关于临终姑息治疗的实践和观点:意大利利古里亚大区肿瘤学家调查。
IF 4.6 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-10-14 DOI: 10.1177/03008916241287616
Irene Giannubilo, Linda Battistuzzi, Tommaso Ruelle, Francesca Benedetta Poggio, Giulia Buzzatti, Alessia D'Alonzo, Federica Della Rovere, Chiara Molinelli, Maria Grazia Razeti, Simone Nardin, Luca Arecco, Marta Perachino, Diletta Favero, Roberto Borea, Paolo Pronzato, Lucia Del Mastro, Stefania Vecchio, Claudia Bighin
{"title":"Practices and views about palliative care at the end of life: A survey of oncologists from the Italian region of Liguria.","authors":"Irene Giannubilo, Linda Battistuzzi, Tommaso Ruelle, Francesca Benedetta Poggio, Giulia Buzzatti, Alessia D'Alonzo, Federica Della Rovere, Chiara Molinelli, Maria Grazia Razeti, Simone Nardin, Luca Arecco, Marta Perachino, Diletta Favero, Roberto Borea, Paolo Pronzato, Lucia Del Mastro, Stefania Vecchio, Claudia Bighin","doi":"10.1177/03008916241287616","DOIUrl":"10.1177/03008916241287616","url":null,"abstract":"<p><strong>Introduction: </strong>We conducted an online survey to investigate oncologists' clinical practices and views on palliative care at the end of life in the Italian region of Liguria.</p><p><strong>Methods: </strong>The survey included 29 items divided into three sections: participant characteristics (n=6), hospital resources and practices (n=11), participant practices and views (n=12).</p><p><strong>Results: </strong>Twenty-one of the 41 medical oncologists invited completed the survey (51%). Although almost all reported the presence of palliative medicine physicians at their hospitals (90%), nearly half (48%) stated that palliative medicine physicians were not responsible for managing cancer patients at end of life, and 21% reported routine participation of palliative medicine physicians in multidisciplinary meetings. Thirty-eight percent of the respondents stated they never consulted psychologists regarding end of life patient care, and 43% reported they rarely did. Notably, a substantial proportion of participants stated that they administered active treatments to patients with six months life expectancy. Regarding integration between oncology and palliative medicine, an equal proportion felt it had been fully (48%) or partially achieved (48%) at their hospitals.</p><p><strong>Conclusions: </strong>Participants seemed fairly satisfied with the level of integration between oncology and palliative medicine at their hospitals, which contrasts with other findings regarding, for instance, the scant participation of palliative medicine physicians in multidisciplinary meetings. Exploring the impact of the novel regional clinical healthcare pathway for palliative care on practices at hospitals in Liguria will be crucial to ensure that cancer patients at end of life receive quality care.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"430-436"},"PeriodicalIF":4.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475832","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}
引用次数: 0
High throughput sequencing reveals alterations in B cell receptor repertoires associated with the progression of hepatic cirrhosis to hepatocellular carcinoma. 高通量测序揭示了与肝硬化发展为肝细胞癌相关的 B 细胞受体序列的改变。
IF 4.6 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-10-31 DOI: 10.1177/03008916241290638
Yingying Zhao, Fengyan Wang, Xiaofei Lei, Ziqiang Li, Qiwei Cao, Runze Jiang, Changqing Xu, Kun Li
{"title":"High throughput sequencing reveals alterations in B cell receptor repertoires associated with the progression of hepatic cirrhosis to hepatocellular carcinoma.","authors":"Yingying Zhao, Fengyan Wang, Xiaofei Lei, Ziqiang Li, Qiwei Cao, Runze Jiang, Changqing Xu, Kun Li","doi":"10.1177/03008916241290638","DOIUrl":"10.1177/03008916241290638","url":null,"abstract":"<p><strong>Background: </strong>Hepatocellular carcinoma (HCC) is developed as a consequence of chronic liver cirrhosis, and both diseases are difficult to diagnose and differentiate. Accurate noninvasive biomarkers for HCC and liver cirrhosis are urgently needed.</p><p><strong>Methods: </strong>Here we used high-throughput sequencing to characterize the B cell receptor (BCR) repertoires from 36 HCC tumor samples and 10 liver cirrhosis (LC) tissue biopsies to understand the immune alterations during hepatic carcinogenesis.</p><p><strong>Results: </strong>The principal components analysis (PCA) showed that the pattern of BCR in HCC was distinct from that in LC. As measured by Clonality and Shannon indexes, the diversity of BCR repertoire was significantly lower in HCC than in LC (P < 0.01).</p><p><strong>Conclusion: </strong>Our results corroborated that the BCR diversity and composition could be closely correlated with hepatic carcinogenesis. And BCR repertoire may be used to predict the progression of HCC and design targeting immunotherapy in the near future.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"462-469"},"PeriodicalIF":4.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558879","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}
引用次数: 0
Effect of body mass index on immune checkpoint inhibitor efficacy in patients with advanced cancer. 体重指数对晚期癌症患者免疫检查点抑制剂疗效的影响
IF 4.6 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-11-06 DOI: 10.1177/03008916241291989
Gülin Alkan Şen, Nihan Şentürk Öztaş, Ezgi Değerli, Murad Guliyev, Hande Turna, Mustafa Özgüroğlu
{"title":"Effect of body mass index on immune checkpoint inhibitor efficacy in patients with advanced cancer.","authors":"Gülin Alkan Şen, Nihan Şentürk Öztaş, Ezgi Değerli, Murad Guliyev, Hande Turna, Mustafa Özgüroğlu","doi":"10.1177/03008916241291989","DOIUrl":"10.1177/03008916241291989","url":null,"abstract":"<p><strong>Background: </strong>The need for predictive factors regarding the response to immune checkpoint inhibitors (ICIs) is increasing. Recent research indicates that an enhanced response to ICIs is associated with a higher body mass index (BMI). This study aims to evaluate the relationship between response to ICIs and BMI in solid tumors.</p><p><strong>Methods: </strong>We retrospectively analyzed patients with advanced cancer treated with ICIs at one academic center. We compared the treatment responses of patients classified as underweight/normal weight (BMI <25) and overweight/obese (BMI ⩾ 25) according to their BMI at the initiation of ICI treatment. After excluding underweight patients, we also compared the progression-free survival (PFS) and overall survival (OS) of normal-weight, overweight, and obese patients.</p><p><strong>Results: </strong>Overall, 113 patients were evaluated. Forty-seven (41.6%) patients had BMI <25 and 66 (58.4%) patients had a BMI ⩾ 25. In underweight/normal patients, median PFS was 7.7 months (95% CI: 4.7-10.6) while it was 8.0 months (95% CI: 4.1-11.9) in overweight/obese patients (HR 1.16, 95% CI: (0.76-1.75), p=0.477). In underweight/normal patients, the median OS was 21.7 months (95% CI: 11.6-31.7) compared to 18.7 months (95% CI: 12.7-24.6) in overweight/obese patients (HR 1.06, 95% CI: (0.69-1.64), p=0.774). The objective response rate (ORR) was 38.3% in underweight/normal patients and 34.8% in overweight/obese patients (p = 0.707). After excluding underweight patients, there were also no significant differences in PFS (p = 0.914), OS (p = 0.642), and ORR (p = 0.909) between patients of normal weight, overweight, and obesity.</p><p><strong>Conclusion: </strong>Our research found no correlation between BMI and response to ICIs. Additional prospective studies are necessary to assess the effect of BMI on the response to ICIs.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"437-442"},"PeriodicalIF":4.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591297","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}
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