TumoriPub Date : 2024-12-09DOI: 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}
TumoriPub Date : 2024-12-09DOI: 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}
TumoriPub Date : 2024-12-09DOI: 10.1177/03008916241299616
Carlo Alfredo Clerici, Andrea Ferrari, Tullio Proserpio
{"title":"Evolving perspectives: Exploring the role of artificial intelligence between clinical practice and health pastoral care.","authors":"Carlo Alfredo Clerici, Andrea Ferrari, Tullio Proserpio","doi":"10.1177/03008916241299616","DOIUrl":"https://doi.org/10.1177/03008916241299616","url":null,"abstract":"<p><p>This article analyses the integration of artificial intelligence (AI) in health pastoral care, emphasizing the synergy between technology and spirituality. This paper discusses possible AI applications, highlighting the importance of ethical implementation that respects human interactions. Ethical issues like privacy and empathy are examined, as well as the potential of AI in facilitating collaboration between healthcare professionals and pastoral workers. Finally, it calls for a debate on the responsible use of AI in care contexts.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241299616"},"PeriodicalIF":2.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802294","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}
TumoriPub Date : 2024-12-06DOI: 10.1177/03008916241303022
Cristiana Sessa, Luzia Travado, Gabriele Calaminus, Teresa Margarida Cunha, Roberto C Delgado Bolton, Willemien van Driel, Andreia Fernandes, Margaret Hutka, Birthe Lemley, Natalia Luczak, Rui Medeiros, Simon Oberst, Nelleke Ottevanger, Andrea Papadia, Philippe Pereira, Manuel Rodrigues, Simona Stolnicu, Katrien Vandecasteele, Alberto Costa, Philip Poortmans, Fedro Peccatori
{"title":"European Cancer Organisation Essential Requirements for Quality Cancer Care for ovarian cancer: Focus on the multidisciplinary team.","authors":"Cristiana Sessa, Luzia Travado, Gabriele Calaminus, Teresa Margarida Cunha, Roberto C Delgado Bolton, Willemien van Driel, Andreia Fernandes, Margaret Hutka, Birthe Lemley, Natalia Luczak, Rui Medeiros, Simon Oberst, Nelleke Ottevanger, Andrea Papadia, Philippe Pereira, Manuel Rodrigues, Simona Stolnicu, Katrien Vandecasteele, Alberto Costa, Philip Poortmans, Fedro Peccatori","doi":"10.1177/03008916241303022","DOIUrl":"https://doi.org/10.1177/03008916241303022","url":null,"abstract":"<p><p>European Cancer Organisation Essential Requirements for Quality Cancer Care (ERQCC) are written by experts representing all disciplines involved in cancer care in Europe. They give patients, health professionals, managers and policymakers a guide to essential care. Here, the essential requirements to treat ovarian cancer patients are described. Ovarian cancer patients continue to have low cure rates with wide variation in treatment and care in Europe and beyond. They require complex treatment that should be carried out in specialised ovarian/gynaecological cancer centres by professionals with the appropriate expertise interacting in a multidisciplinary team. Such centralisation is still not well established in many European countries. A patient-centred pathway from diagnosis through treatment to survivorship, managed in dedicated centres, is key to achieving optimal care and a successful clinical outcome.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241303022"},"PeriodicalIF":2.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791590","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}
TumoriPub Date : 2024-12-02DOI: 10.1177/03008916241298810
Alice Maraschini, Edoardo Corsi Decenti, Serena Donati, Silvia Francisci, Tania Lopez, Rosalba Amodio, Fortunato Bianconi, Emanuela Bovo, Rossella Bruni, Marine Castaing, Claudia Cirilli, Rosa Pasqualina De Vincenzo, Giuseppe Furgiuele, Linda Guarda, Silvia Iacovacci, Lucia Mangone, Walter Mazzucco, Anna Melcarne, Elisabetta Merlo, Michael Mian, Giuseppe Sampietro, Giovanni Scambia, Tiziana Scuderi, Ausilia Sferrazza, Fabrizio Stracci, Antonina Torrisi, Vito Trojano, Maria Francesca Vitale, Daniela Pierannunzio
{"title":"Fertility and abortion: A population-based comparison between women with cancer and those in childbearing age.","authors":"Alice Maraschini, Edoardo Corsi Decenti, Serena Donati, Silvia Francisci, Tania Lopez, Rosalba Amodio, Fortunato Bianconi, Emanuela Bovo, Rossella Bruni, Marine Castaing, Claudia Cirilli, Rosa Pasqualina De Vincenzo, Giuseppe Furgiuele, Linda Guarda, Silvia Iacovacci, Lucia Mangone, Walter Mazzucco, Anna Melcarne, Elisabetta Merlo, Michael Mian, Giuseppe Sampietro, Giovanni Scambia, Tiziana Scuderi, Ausilia Sferrazza, Fabrizio Stracci, Antonina Torrisi, Vito Trojano, Maria Francesca Vitale, Daniela Pierannunzio","doi":"10.1177/03008916241298810","DOIUrl":"https://doi.org/10.1177/03008916241298810","url":null,"abstract":"<p><strong>Objectives: </strong>Concurrence of pregnancy and cancer diagnosis is increasingly frequent in Italy. The study aimed to compare women with pregnancy-associated cancers (PACs) to those of childbearing age, focusing on fertility, induced abortion, and miscarriage.</p><p><strong>Methods: </strong>The population-based study included women aged 15-49 years, both with and without PAC, who were residents in the area covered by the 19 participating Cancer Registries between 2003 and 2015 and identified by individual deterministic linkage with the Hospital Discharge Database.</p><p><strong>Results: </strong>Overall, 2,218,139 obstetrics hospitalizations occurred, covering delivery (75%), induced abortion (14%), and miscarriage (11%). Among 2409 women with PAC, 69% gave birth, 16% had an induced abortion and 15% a miscarriage. Compared with the reference population, the fertility rate in women with PACs was steadily lower (mean values 25.7/1000 vs 37.7/1000), while induced abortion (from 359/1000 - SRR 1.99, 95%CI 1.32-3.00 - in 2003 to 147/1000 - SRR 1.11, 95%CI 0.59-2.09 - in 2015) and miscarriage ratios exhibited a decreasing trend.</p><p><strong>Conclusion: </strong>These results are consistent with international literature and are probably due to advancements in diagnostic and therapeutic opportunities. This is the first Italian population-based study analysing fertility and pregnancy outcomes among women with PAC based on a reliable information on cancer diagnosis.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241298810"},"PeriodicalIF":2.0,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772600","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}
TumoriPub Date : 2024-12-01Epub Date: 2024-10-14DOI: 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}
TumoriPub Date : 2024-12-01Epub Date: 2024-10-31DOI: 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}
TumoriPub Date : 2024-12-01Epub Date: 2024-11-06DOI: 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}
TumoriPub Date : 2024-12-01Epub Date: 2024-05-23DOI: 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":4.6,"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}
TumoriPub Date : 2024-12-01Epub Date: 2024-06-13DOI: 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":4.6,"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}