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Multiple targets, germline BRCA1 mutation and HRD in a lung cancer patient: Molecular considerations and treatment decision-making. 肺癌患者的多靶点、种系 BRCA1 基因突变和 HRD:分子因素和治疗决策。
IF 2 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-06-13 DOI: 10.1177/03008916241257754
Fabiana Perrone, Francesco Facchinetti, Benedetta Pellegrino, Roberta Minari, Letizia Gnetti, Cinzia Azzoni, Lorena Bottarelli, Nicoletta Campanini, Juan Francisco Grau-Bejar, Anna Mingozzi, Valeria Cognigni, Marcello Tiseo
{"title":"Multiple targets, germline <i>BRCA1</i> mutation and HRD in a lung cancer patient: Molecular considerations and treatment decision-making.","authors":"Fabiana Perrone, Francesco Facchinetti, Benedetta Pellegrino, Roberta Minari, Letizia Gnetti, Cinzia Azzoni, Lorena Bottarelli, Nicoletta Campanini, Juan Francisco Grau-Bejar, Anna Mingozzi, Valeria Cognigni, Marcello Tiseo","doi":"10.1177/03008916241257754","DOIUrl":"10.1177/03008916241257754","url":null,"abstract":"<p><strong>Introduction: </strong>Several biomarkers are currently available to address targeted treatments in cancer patients, with lung malignancies representing one of the best examples.</p><p><strong>Case description: </strong>We report the case of a patient affected by advanced non-small cell lung cancer with an uncommon histology and a complex biology. The use of a large next-generation sequencing (NGS) NGS panel allowed us to identify an extremely rare <i>BRAF</i> mutation (V600Q), a <i>MET</i> amplification, a high tumor mutational burden, a germline pathogenetic <i>BRCA1</i> mutation and a homologous recombination deficiency through RAD51 assay. The treatment decision was driven by the abundance of molecular information.</p><p><strong>Conclusions: </strong>This case highlights that an attentive and critical evaluation of molecular reports is key for the tailoring of treatment algorithms at the patient-level scale.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"NP11-NP15"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141312727","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
A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome. 患有表皮生长因子受体(EGFR)或 HER2 20 外显子插入 Li Fraumeni 综合征的非小细胞肺癌患者病例系列。
IF 2 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-05-23 DOI: 10.1177/03008916241255485
Valeria Cognigni, Enrica Capelletto, Paola Bordi, Valeria Pavese, Federica Maria Carfì, Francesco Gelsomino, Andrea De Giglio, Rita Chiari, Roberta Minari, Enrico Ambrosini, Antonio Percesepe, Daniela Giachino, Paolo Bironzo, Marcello Tiseo
{"title":"A case series of non-small cell lung cancer patients with <i>EGFR</i> or <i>HER2</i> exon 20 insertion in Li Fraumeni syndrome.","authors":"Valeria Cognigni, Enrica Capelletto, Paola Bordi, Valeria Pavese, Federica Maria Carfì, Francesco Gelsomino, Andrea De Giglio, Rita Chiari, Roberta Minari, Enrico Ambrosini, Antonio Percesepe, Daniela Giachino, Paolo Bironzo, Marcello Tiseo","doi":"10.1177/03008916241255485","DOIUrl":"10.1177/03008916241255485","url":null,"abstract":"<p><strong>Introduction: </strong>Germline pathogenic mutations in <i>TP53</i> gene are associated with a cancer predisposition syndrome known as Li Fraumeni syndrome. Albeit infrequently, non-small cell lung cancer, especially as oncogene-addicted disease, may be diagnosed in young patients with Li Fraumeni syndrome.</p><p><strong>Case description: </strong>We report three cases of patients affected by Li Fraumeni syndrome who developed non-small cell lung cancer with <i>EGFR</i> or <i>HER2</i> exon 20 insertions. The first patient suffered from liposarcoma and, then, brain metastases from <i>HER2</i>-mutated non-small cell lung cancer: after stereotactic radiotherapy, he benefited from enrollment in a clinical trial with a <i>HER2</i>-targeted therapy. The second young patient was a female with personal history of rhabdomyosarcoma, diagnosed with brain metastases from <i>EGFR</i>-mutated non-small cell lung cancer: enrollment in a clinical trial led to a temporary clinical benefit. The last case was a female diagnosed with breast carcinoma, ovarian granulosa cell tumor and advanced <i>EGFR</i>-mutated non-small cell lung cancer at a young age.</p><p><strong>Conclusions: </strong>Young patients affected by oncogene-addicted non-small cell lung cancer and with a positive familial cancer history should be referred for an accurate genetic counselling to look for Li Fraumeni syndrome. The underlying molecular connection between <i>TP53</i> and HER family receptor tyrosine kinases remains unclear, but an extensive molecular characterization of tumors from patients with Li Fraumeni syndrome should always be performed, to offer patients a personalized therapeutic approach.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"NP5-NP10"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141082371","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
Proton therapy for pediatric malignancies: Indications and challenges focusing on the oncological landscape. 质子治疗小儿恶性肿瘤:适应症和挑战,聚焦肿瘤学领域。
IF 2 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-10-15 DOI: 10.1177/03008916241287016
Sabina Vennarini, Francesca Colombo, Andrea R Filippi, Ester Orlandi
{"title":"Proton therapy for pediatric malignancies: Indications and challenges focusing on the oncological landscape.","authors":"Sabina Vennarini, Francesca Colombo, Andrea R Filippi, Ester Orlandi","doi":"10.1177/03008916241287016","DOIUrl":"10.1177/03008916241287016","url":null,"abstract":"<p><p>Advances in therapeutic techniques and multimodal approaches have significantly improved the success rates of treatment for pediatric malignancies, with cure rates now close to 80%. This has led to an increase in long-term survival, with 0.10-0.15% of the general population being survivors of childhood cancer. In Italy, cancer registry data suggest that 75% of treated children become long-term survivors. However, these survivors face significant risks of late adverse events, including chronic diseases and severe conditions, highlighting the need for specialized follow-up care.Radiotherapy, a cornerstone of pediatric cancer treatment, contributes to late toxicities due to the susceptibility of growing tissues. Proton therapy offers advantages in reducing treatment-related toxicity, reducing the risk of secondary cancers, and allowing dose escalation for radioresistant tumors. Comparative studies suggest that proton therapy is superior in sparing healthy tissues and reducing long-term toxicities.Despite these benefits, challenges such as the high cost, limited proton therapy centers, and the need for clinical trials hinder the widespread adoption of proton therapy. Efforts to centralize care in high-ranking centers and ensure equitable access to proton therapy are crucial. In Italy, pediatric solid tumors are now eligible for proton therapy under national health policies, ensuring free access for all children.Dedicated proton therapy centers must provide comprehensive care involving multidisciplinary teams and supportive environments for pediatric patients and their families. Addressing current limitations and enhancing care environments are essential for improving outcomes for pediatric oncology patients.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"416-421"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475833","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
Hot topics in genitourinary cancers: A multidisciplinary discussion on state-of-the-art and latest developments among international experts and patient advocacy. 泌尿生殖系统癌症的热门话题:国际专家和患者权益倡导者就最前沿的最新发展进行多学科讨论。
IF 2 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-10-06 DOI: 10.1177/03008916241270093
Alessandro Rametta, Paolo Ambrosini, Chiara Cavalli, Eleonora Gusmaroli, Melanie Claps, Patrizia Giannatempo, Valentina Guadalupi, Marco Stellato, Elena Verzoni, Filippo Maria Guglielmo De Braud, Giuseppe Procopio
{"title":"Hot topics in genitourinary cancers: A multidisciplinary discussion on state-of-the-art and latest developments among international experts and patient advocacy.","authors":"Alessandro Rametta, Paolo Ambrosini, Chiara Cavalli, Eleonora Gusmaroli, Melanie Claps, Patrizia Giannatempo, Valentina Guadalupi, Marco Stellato, Elena Verzoni, Filippo Maria Guglielmo De Braud, Giuseppe Procopio","doi":"10.1177/03008916241270093","DOIUrl":"10.1177/03008916241270093","url":null,"abstract":"<p><p>Genitourinary cancers present significant challenges to oncologists, necessitating innovative approaches for improved patient outcomes. The 'Controversies in Genitourinary Cancers' congress, held in January 2024, convened international experts to address the complexities of prostate, bladder, renal and rare genitourinary cancers. Sessions explored current trends, novel treatments, and unmet needs, emphasizing collaborative efforts to advance knowledge and patient care. Through multidisciplinary engagement and patient advocacy, the congress underscored the imperative of collective action in navigating the complexities of genitourinary cancers, ultimately aiming to transform clinical practice and improve patient outcomes.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"410-415"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381739","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
Enhanced patient journey associated with improved overall survival in colon cancer patients: A study by the Ligurian Oncology Network. 患者旅程的改善与结肠癌患者总生存率的提高有关:利古里亚肿瘤网络的一项研究。
IF 4.6 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-10-06 DOI: 10.1177/03008916241286692
Andrea Boutros, Nidia Sofia Diaz Gaitan, Giovanni Orengo, Eva Blondeaux, Alessandro Pastorino, Monica Zacconi, Francesca Ferrè, Luca Boni, Barbara Cardinali, Lucia Del Mastro
{"title":"Enhanced patient journey associated with improved overall survival in colon cancer patients: A study by the Ligurian Oncology Network.","authors":"Andrea Boutros, Nidia Sofia Diaz Gaitan, Giovanni Orengo, Eva Blondeaux, Alessandro Pastorino, Monica Zacconi, Francesca Ferrè, Luca Boni, Barbara Cardinali, Lucia Del Mastro","doi":"10.1177/03008916241286692","DOIUrl":"10.1177/03008916241286692","url":null,"abstract":"<p><strong>Background: </strong>Colon cancer imposes a significant burden on global healthcare systems, necessitating efforts to improve oncology care quality and patient outcomes. We studied the correlation between care quality and survival outcomes among colon cancer patients within the Ligurian Oncology Network (Italy).</p><p><strong>Methods: </strong>We developed an Overall Quality Score (OQS) to evaluate the impact of oncology care quality on survival outcomes within the Ligurian Oncology Network. OQS indicators were selected through expert consensus, covering screening, diagnosis, treatment, and follow-up. A sample of colon cancer patients diagnosed in 2012 was randomly selected from administrative healthcare data. Analyses were performed using two models: a binary model (High and Low OQS) and a stratified model (Low, Medium, and High OQS). Statistical analysis involved survival curves, log-rank tests, and Cox proportional hazards models using SAS 9.4.</p><p><strong>Results: </strong>Of 175 eligible colon cancer patients, 150 were included. Following a median follow-up of 7.6 years, a correlation between High-OQS (⩾ 65%) and prolonged disease-free survival was observed (unadjusted HR 0.57, 95%CI 0.33-0.99, log-rank p=0.041). The five-year disease-free survival rate for High-OQS patients was 70% (95%CI 57-80%), compared to 53% (95%CI 41-64%) for Low-OQS patients. Similarly, the five-year overall survival rate was 78% (95%CI 65-86%) for High-OQS patients, compared to 58% (95%CI 45-68%) for Low-OQS patients (unadjusted HR 0.56, 95%CI 0.31-1.00, log-rank p=0.048).</p><p><strong>Conclusions: </strong>Our findings highlight the potential impact of the patient journey on colon cancer survival outcomes. Optimising care pathways might improve patient outcomes in colon cancer management.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"422-429"},"PeriodicalIF":4.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381738","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
Fat necrosis after accelerated partial breast irradiation or hypofractionated whole breast irradiation: A case-control study. 乳房加速部分照射或全乳房低分量照射后的脂肪坏死:病例对照研究
IF 2 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-10-25 DOI: 10.1177/03008916241291305
Riccardo Ray Colciago, Eliana La Rocca, Carlotta Giandini, Maria Grazia Carnevale, Giulia Valeria Bianchi, Ilaria Maugeri, Catherine Depretto, Silvia Meroni, Anna Cavallo, Emanuele Pignoli, Laura Lozza, Tiziana Rancati, Maria Carmen De Santis
{"title":"Fat necrosis after accelerated partial breast irradiation or hypofractionated whole breast irradiation: A case-control study.","authors":"Riccardo Ray Colciago, Eliana La Rocca, Carlotta Giandini, Maria Grazia Carnevale, Giulia Valeria Bianchi, Ilaria Maugeri, Catherine Depretto, Silvia Meroni, Anna Cavallo, Emanuele Pignoli, Laura Lozza, Tiziana Rancati, Maria Carmen De Santis","doi":"10.1177/03008916241291305","DOIUrl":"10.1177/03008916241291305","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to compare the incidence of fat necrosis after accelerated partial breast irradiation (APBI) vs hypofractionated whole breast irradiation (WBI) in patients with early-stage breast cancer.</p><p><strong>Materials and methods: </strong>Data from early-stage breast cancer patients who underwent breast-conserving surgery and adjuvant radiotherapy between 2009 and 2022 were retrospectively collected. Radiation therapy consisted of APBI of 30 Gy in 5 daily fractions (Fx) (delivered in one week, consecutively) to the tumour bed or WBI (42.4 Gy in 16 Fx). Reports on fat necrosis were extracted from yearly mammograms and breast ultrasound imaging. The primary endpoint was the incidence of radiologically detected fat necrosis.</p><p><strong>Results: </strong>A total of 536 patients were included among the APBI and WBI cohorts, with 268 and 268 patients respectively. The three-year Kaplan-Meier actuarial rate of fat necrosis was 32.8% (95% CI: 30.0% - 35.6%) for APBI and 22.3% (95% CI: 19.7% - 24.9%) for WBI patients. Univariate Kaplan-Meier survival analysis revealed a Hazard Ratio of 1.6 [95% CI: 1.1 - 2.2; p = 0.0055] for the fat necrosis rate within the APBI group compared to WBI. Multivariate Cox proportional hazard regression confirmed significant associations between fat necrosis and APBI (HR = 2.2 95% CI: 1.2 - 4.0; p = 0.01).</p><p><strong>Conclusions: </strong>The occurrence of radiologically diagnosed fat necrosis was higher in the APBI group compared to the WBI. Further investigations aiming to identify a lower-dose schedule with comparable efficacy to 30 Gy in 5 Fx but fewer toxicities, particularly for high-risk patients, are warranted.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"451-461"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11571601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508867","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}
引用次数: 0
Preoperative chemo-CIRT in Re/BRe pancreatic cancer: Insights from a multicenter prospective phase II clinical study (NCT03822936). Re/BRe胰腺癌术前化疗-CIRT:一项多中心前瞻性 II 期临床研究的启示(NCT03822936)。
IF 2 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-10-27 DOI: 10.1177/03008916241291341
Amelia Barcellini, Silvia Molinelli, Alessandro Vanoli, Viviana Vitolo, Piero Fossati, Alessandro Vai, Anna Pagani, Frediano Inzani, Mattia Pecorilla, Giovanni Butturini, Catherine Klersy, Lorenzo Preda, Angelica Facoetti, Francesca Valvo, Ester Orlandi
{"title":"Preoperative chemo-CIRT in Re/BRe pancreatic cancer: Insights from a multicenter prospective phase II clinical study (NCT03822936).","authors":"Amelia Barcellini, Silvia Molinelli, Alessandro Vanoli, Viviana Vitolo, Piero Fossati, Alessandro Vai, Anna Pagani, Frediano Inzani, Mattia Pecorilla, Giovanni Butturini, Catherine Klersy, Lorenzo Preda, Angelica Facoetti, Francesca Valvo, Ester Orlandi","doi":"10.1177/03008916241291341","DOIUrl":"10.1177/03008916241291341","url":null,"abstract":"<p><strong>Purpose: </strong>There is debate about the optimal management of borderline resectable (bRe) and resectable (Re) pancreatic ductal adenocarcinoma (PDAC). Both preclinical and clinical evidence showed that carbon ion radiotherapy (CIRT) produces superior control on radioresistant histologies compared to conventional photon beam radiotherapy (RT). However, so far there is a lack of data concerning the integration of CIRT in a multimodal approach with chemotherapy and surgery for bRe/Re.</p><p><strong>Methods: </strong>We recently presented the first analysis of a multicenter prospective phase II clinical study aimed at assessing the feasibility and effectiveness of a neoadjuvant chemotherapy + short course of CIRT followed by surgery and adjuvant chemotherapy in the management of bRe/Re PDAC. The study was terminated early due to low patient enrollment.Herein, we reported a post-hoc analysis focusing on toxicity, dosimetry and translational assessment.</p><p><strong>Results: </strong>In our experience, CIRT can be integrated into a multimodal treatment strategy for bRe/Re PDAC, alongside chemotherapy and surgery. A case of fatal liver failure occurring three months post-surgery has been documented, likely related to the combination approach. Although the treatment plans were satisfactory according to the Local Effect Model (LEM) model, recalculations using the modified Microdosimetric Kinetic Model (mMKM) revealed suboptimal target coverage. Additionally, we observed an increased expression of PD-L1 following CIRT.</p><p><strong>Conclusions: </strong>This multimodal approach was well tolerated; however, clinicians should carefully monitor for vascular disorders during follow-up and further investigate surgical techniques after CIRT. The increased PD-L1 expression supports the immunogenic effects of particle therapy and lays the groundwork for future studies. To enhance the therapeutic ratio of CIRT treatments, integrating LET-d based objectives into the plan optimization process should be considered.</p><p><strong>Trial registration number: </strong>ClinicalTrials.gov Identifier: NCT03822936.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"470-474"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508868","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
Self-perceived attitudes of Italian oncology nurses towards clinical trial involvement: A cohort observational study. 意大利肿瘤科护士对参与临床试验的自我认知态度:一项队列观察研究。
IF 2 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-10-27 DOI: 10.1177/03008916241290736
Elsa Vitale, Roberto Lupo, Luana Conte, Rocco Mea, Ivan Rubbi, Serena Iacovelli, Giorgio De Nunzio, Raffaella Massafra
{"title":"Self-perceived attitudes of Italian oncology nurses towards clinical trial involvement: A cohort observational study.","authors":"Elsa Vitale, Roberto Lupo, Luana Conte, Rocco Mea, Ivan Rubbi, Serena Iacovelli, Giorgio De Nunzio, Raffaella Massafra","doi":"10.1177/03008916241290736","DOIUrl":"10.1177/03008916241290736","url":null,"abstract":"<p><strong>Background: </strong>Literature is lacking when it comes to oncology nursing attitudes in clinical trial involvement.</p><p><strong>Objective: </strong>To assess how Italian oncology nurses perceived their attitudes in clinical trials involvement.</p><p><strong>Methods: </strong>An on-line cohort observational study was carried out. Data collected included: sex, years of work experience in oncology field and 10 items assessing participants' self-perceptions of their attitudes in clinical trials. Linear regression was used to assess associations between work experience and self-perceived preparedness.</p><p><strong>Results: </strong>A total of 338 Italian oncology nurses were enrolled. Most nurses declared not receiving any specific training in oncology clinical trials (23.1%). No significant associations were reported between self- perceived attitudes in clinical trial involvement in the oncology setting and both work experience and clinical trial involvement.</p><p><strong>Conclusions: </strong>Cancer centers are improving cancer nursing research in supplying clinical care. But very few centers are involved in training oncology nurses. This gap seems to be very deep in taking into consideration the oncology nursing research in clinical trials, too.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"443-450"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11571600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508780","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}
引用次数: 0
Light and shade of multigene panel testing for hereditary cancer: Examples from the real world. 遗传性癌症多基因面板检测的明暗:现实世界中的实例。
IF 2 4区 医学
Tumori Pub Date : 2024-11-21 DOI: 10.1177/03008916241288078
Giovanni Innella, Simona Ferrari, Sara Miccoli, Daniela Turchetti
{"title":"Light and shade of multigene panel testing for hereditary cancer: Examples from the real world.","authors":"Giovanni Innella, Simona Ferrari, Sara Miccoli, Daniela Turchetti","doi":"10.1177/03008916241288078","DOIUrl":"https://doi.org/10.1177/03008916241288078","url":null,"abstract":"<p><strong>Background: </strong>MultiGene Panel Testing (MGPT) allows for simultaneous analysis of multiple cancer-related genes, enabling the identification of pathogenic variants in genes beyond those that would be analyzed based on a specific phenotype. However, a relevant fraction of variants so identified has little or no clinical utility, raising the need for guidance in selecting genes to include in panels and for interpretation of the results.</p><p><strong>Methods: </strong>Taking advantage of seven real paradigmatic cases, we analyze some of the scenarios where MGPT constitutes a meaningful advantage for diagnosis, as well as situations where panel use increases the risk of misinterpretation or complicates result communication and management.</p><p><strong>Results: </strong>The use of MGPT facilitates prompt diagnosis in carriers of variants in rare genes (such as <i>NTHL1</i>), which would be diagnosed at a later stage if using a step-wise approach, as well as in carriers of bi-allelic variants (for instance in <i>BRCA</i> or MMR genes) leading to atypical phenotypes. Conversely, finding variants in moderate penetrance genes, such as <i>ATM</i> and <i>CHEK2</i>, may complicate interpretation and clinical management. Furthermore, for some of the genes included in MGPT, for instance <i>NBN</i>, the association with cancer risk has been questioned, leading to potentially misleading results.</p><p><strong>Conclusion: </strong>Taken together, the cases here described provide some examples of the benefits, as well as risks, involved by the use of MGPT, which may increase awareness among users and reinforce the need for establishing clear recommendations on genes to be included and management of the results.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241288078"},"PeriodicalIF":2.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682729","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
Chemoprevention strategies in hereditary breast and ovarian cancer syndromes. 遗传性乳腺癌和卵巢癌综合征的化学预防策略。
IF 2 4区 医学
Tumori Pub Date : 2024-11-21 DOI: 10.1177/03008916241274721
Elena Barbieri, Marta Venturelli, Luciana Mastrodomenico, Claudia Piombino, Ornella Ponzoni, Silvia Zaniboni, Serena Barban, Elisabetta Razzaboni, Giovanni Grandi, Massimo Dominici, Laura Cortesi, Angela Toss
{"title":"Chemoprevention strategies in hereditary breast and ovarian cancer syndromes.","authors":"Elena Barbieri, Marta Venturelli, Luciana Mastrodomenico, Claudia Piombino, Ornella Ponzoni, Silvia Zaniboni, Serena Barban, Elisabetta Razzaboni, Giovanni Grandi, Massimo Dominici, Laura Cortesi, Angela Toss","doi":"10.1177/03008916241274721","DOIUrl":"https://doi.org/10.1177/03008916241274721","url":null,"abstract":"<p><p>Hereditary breast and/or ovarian cancer syndromes are inherited disorders in which there is an increased risk of developing breast and/or ovarian cancer in the lifetime, usually at a younger age compared to the general population. Cancer prevention in these syndromes includes prophylactic surgeries, personalized surveillance programs and chemopreventive strategies. Chemoprevention exploits the use of certain drugs or other substances to help lower the risk of developing cancer. In this context, tamoxifen was the first agent considered for breast cancer prevention, followed by raloxifene and the third-generation aromatase inhibitors. On the other hand, the first and most widespread type of chemoprevention for ovarian cancer was combined hormonal contraceptive use. Although several strategies have been studied and showed promising results, only a few of these are currently applied in daily clinical practice. Side effects along with several psychological variables such as cancer perceived risk, worries and related distress, strongly influence women's decision on chemoprevention. The present review explores and summarizes the available evidence on breast and ovarian cancer chemoprevention approaches.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241274721"},"PeriodicalIF":2.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682814","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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