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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 Q3 ONCOLOGY Pub Date : 2024-12-26 DOI: 10.1177/03008916241308119
Davide Ferrari, Emanuele Rausa, Sara Lauricella, Clorinda Brignola, Antonio Zaccara, Stefano Signoroni, Maria Teresa Ricci

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

背景:林奇综合征(Lynch Syndrome,LS)是一种常染色体显性遗传疾病,由 DNA 错配修复基因中的种系致病变异引起,导致罹患不同类型癌症(尤其是结直肠癌和子宫内膜癌)的风险升高。及早识别 LS 患者对实施预防措施至关重要。本研究旨在评估 LS 患者对结肠直肠癌监测的坚持率,并找出影响因素:分析了米兰国家肿瘤研究所基金会(Fondazione IRCCS Istituto Nazionale dei Tumori)遗传性消化系统肿瘤登记处 1995 年至 2018 年的数据。研究纳入了397名LS患者,根据是否坚持监测进行分类。研究采用了包括多变量逻辑回归在内的统计分析,以确定影响坚持治疗的因素:在 397 名 LS 患者中,305 人(76.8%)完成了监测,92 人(23.2%)在监测过程中死亡。52名患者在监测期间罹患结直肠癌:完成监测的患者中有 34 人,未完成监测的患者中有 18 人:这项研究强调了对 LS 患者坚持定期结直肠监测计划的重要性。遗传咨询和高等教育是对坚持监测产生积极影响的关键因素。与转诊中心的地理距离则会产生负面影响。
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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 Q3 ONCOLOGY Pub Date : 2024-12-19 DOI: 10.1177/03008916241306971
Isabel T Rubio, Caroline A Drukker, Antonio Esgueva

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.

以人群为基础的筛查项目旨在早期发现疾病,因此需要较少的治疗,并且在早期诊断时具有更好的肿瘤预后。在大多数欧洲国家,乳腺癌筛查项目是根据女性的年龄设计的。随机临床试验数据的荟萃分析表明,筛查降低了乳腺癌死亡率的相对风险,据估计约为20%。关于人群乳腺癌筛查项目的一个争议是基于年龄的筛查忽略了女性个体患乳腺癌的风险。识别高风险妇女可以加强筛查措施,并将优化人口筛查计划,使其与个人风险保持一致。乳腺癌家族史是需要考虑的风险因素之一,最近开发的多基因风险评分将女性划分为风险组。评估风险的其他因素包括:乳房x光检查乳房密度;乳腺活检标本具有异型性的B3病变;荷尔蒙和生活方式,以及潜在的表观遗传标记。然而,在验证这些因素和反映模型中风险因素之间的相互作用方面存在一些困难。正在进行的筛查试验(如WISDOM和MyPebs)目前正在评估风险分层筛查方案在普通人群中的临床可接受性和效用,并应为此类方案的可能实施提供有价值的信息。在实施风险分层计划之前,需要向妇女传达复杂的风险信息,以及评估伦理问题。
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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 Q3 ONCOLOGY 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

Introduction: 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).

Case description: 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.

Conclusions: 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.

简介:急性淋巴细胞白血病(ALL)和囊性纤维化(CF)的关联是罕见的。我们报告了一例患有CF和难治性b细胞前体ALL的儿科患者,他接受了嵌合抗原受体t细胞(CAR-T)和异体造血干细胞移植(HSCT)联合治疗。案例描述:自体cd19靶向CAR-T允许实现分子缓解和避免化学相关毒性。由于没有实现b细胞发育不全,患者在全身照射(TBI)为基础的调理后进行了HSCT。HSCT后并发静脉闭塞性疾病,癫痫状态和肺部侵袭性真菌感染,尽管积极治疗,放射学仍表现出进行性恶化。HSCT后5个月,成功进行了左上叶肺叶切除术。移植后13个月,患者病情完全缓解,肺功能正常。结论:CAR-T细胞治疗桥接移植可能是治疗难治性ALL的有效方法,在CF中观察到多种合并症。
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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 Q3 ONCOLOGY 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

Introduction: 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.

Case description: 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 PALB2 (c.1221del; p.Thr408fs*40), ATM (c.8545C>T; p.Arg2849*), PMS2 (c.1919C>A; p.Ser640*), and MUTYH (c.1103G>A; p.Gly368Asp). The patient inherited the ATM and MUTYH variants from the mother, and PALB2 and PMS2 variants from the father. The brother inherited the maternal ATM and paternal PMS2 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.

Conclusions: 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.

简介:多位点遗传性肿瘤等位基因综合征(MINAS)是一种由多个癌症易感基因(CSG)中存在种系致病性变异所定义的疾病。在文献和公共数据库中,MINAS仍未得到充分报道。由于minas相关表型难以预测,病例描述可能有助于先证和亲属的风险评估、治疗和个性化监测。病例描述:在这里我们报告一个独特的病例早发,双焦点,非三阴性乳腺癌在一个31岁的妇女。快速转移性扩散累及大脑导致患者在几个月内死亡。她的多基因面板检测显示PALB2 (c.1221del;p.Thr408fs*40), ATM (c.8545C>T;p.Arg2849*), PMS2 (c.1919C>A;p.Ser640*)和MUTYH (c.1103G>A;p.Gly368Asp)。患者从母亲那里继承了ATM和MUTYH变异,从父亲那里继承了PALB2和PMS2变异。弟弟继承了母亲的ATM和父亲的PMS2变异。基于基线影像学的家庭筛查排除了父母和兄弟的恶性肿瘤。根据在家庭成员中发现的致病变异预测的风险,正在进行量身定制的监测。结论:目前,尚无预测工具可用于确定MINAS患者的器官特异性癌症风险。考虑到预测csg中多种变异的表型影响的不确定性,持续的临床监测和共享复杂病例的数据对于改善这种情况下的风险分层至关重要。
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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 Q3 ONCOLOGY 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

Introduction: Tumour BRCA1/2 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.

Methods: Between April 2020 and December 2022, BRCA1/2 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 BRCA1/2, 16%) or comprehensive (>50 genes) next-generation sequencing panels (84%). Patients with pathogenic/likely pathogenic variants were referred for genetic counselling and germline testing.

Results: Tumour BRCA1/2 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%).

Conclusions: In our tumour-to-germline testing approach, we observed the BRCA1/2 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.

简介:随着多聚(ADP-核糖)聚合酶抑制剂适应症的不断扩大,肿瘤BRCA1/2测序也逐渐增多。在我们的研究中,我们调查了基于肿瘤测序结果鉴定种系携带者的工作流程的可行性和结果:方法:在 2020 年 4 月至 2022 年 12 月期间,对 2020 名患者的 BRCA1/2 肿瘤检测结果进行了审查。分析的肿瘤包括323例卵巢癌、104例乳腺癌、314例胰胆管癌、87例前列腺癌、374例胃肠道癌、309例肺癌和509例较少见的组织类型。检测是通过小型(只有 BRCA1/2,16%)或综合(>50 个基因)新一代测序板(84%)进行的。有致病变异/可能致病变异的患者被转诊接受遗传咨询和种系检测:145名患者(7%)发现了肿瘤BRCA1/2致病变异。致病变异频率介于 23%(75/323 例卵巢癌)和 3.5%(11/314 例胰胆癌)之间。高级别卵巢癌的变异频率最高(27%,64/235)。截至 2023 年 6 月 30 日,145 名患者中有 79 人(54%)接受了后续遗传咨询和种系检测。在这些患者中,大部分为卵巢癌患者(67%,53/79),其中 48 例被证实为生殖系致病变体(61%):结论:在我们的肿瘤到种系检测方法中,我们观察到了其他大型非选择性卵巢癌队列中报告的 BRCA1/2 致病变异频率,从而证实了该方法在识别推定种系携带者方面的有效性,而不论是否有资格进行种系检测。随着接受基因检测的肿瘤范围不断扩大,预计这种方法在其他肿瘤环境中也会有效,以加强对基因携带者的鉴定,减轻基因服务的负担,并避免与种系检测有关的不必要的担忧。
{"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 Q3 ONCOLOGY Pub Date : 2024-12-09 DOI: 10.1177/03008916241303648
Bayram C Akdeniz, Andrew H Morris, Pål Møller, Ole Andreassen, Eivind Hovig, Mev Dominguez-Valentin

Background and aims: 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. MLH1, MSH2, MSH6, PMS2) 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.

Methods: 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.

Results: 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.

Conclusion: 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.

背景与目的:近期研究表明,将多基因风险评分(PRS)与结直肠癌(CRC)易感基因(如MLH1、MSH2、MSH6、PMS2)种系致病变异的携带状态相结合,可能会提高结直肠癌的预测成功率。本研究旨在利用文献中可用的PRS模型,利用错配修复(MMR)基因中致病变异的状态,检验挪威数据中CRC的预测性能。方法:我们的挪威队列包括805例CRC病例,其中86例携带一种MMR基因的致病性变异。作为对照组,我们纳入了8856名没有癌症诊断的个体,其中179名是致病性MMR变异的携带者。我们首先进行了广泛的实验,以确定挪威队列中表现最佳的PRS模型。随后,我们建立了PRS模型和MMR基因状态的联合分析。结果:在测试的10个PRS模型中,挪威队列中表现最好的PRS模型包括204个单核苷酸多态性(snp) (AUC=0.604)。我们还观察到,PRS和MMR状态的组合模型显著提高了预测性能。结论:研究结果表明,在挪威数据中,PRS和MMR基因状态的联合模型提高了CRC的预测性能。
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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 Q3 ONCOLOGY 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

Introduction: 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.

Methods: 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).

Results: 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.

Conclusions: 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.

简介我们进行了一项在线调查,以了解意大利利古里亚大区肿瘤学家对生命末期姑息治疗的临床实践和看法:调查包括 29 个项目,分为三个部分:参与者特征(6 人)、医院资源和实践(11 人)、参与者实践和观点(12 人):受邀的 41 位肿瘤内科医生中有 21 位完成了调查(51%)。尽管几乎所有受访者都表示其所在医院有姑息医学医生(90%),但近半数(48%)受访者表示姑息医学医生不负责管理临终癌症患者,21%的受访者表示姑息医学医生例行参与多学科会议。38%的受访者表示他们从未就生命末期患者的护理问题咨询过心理学家,43%的受访者表示他们很少咨询心理学家。值得注意的是,相当一部分受访者表示,他们对预期寿命只有六个月的患者实施了积极治疗。关于肿瘤学与姑息医学的整合,同等比例的人认为他们所在的医院已经完全(48%)或部分(48%)实现了这一目标:结论:参与者似乎对其所在医院的肿瘤学与姑息医学整合程度相当满意,这与其他调查结果形成了鲜明对比,例如,姑息医学医生很少参与多学科会议。探索姑息治疗的新型区域临床医疗路径对利古里亚各医院实践的影响,对于确保处于生命末期的癌症患者获得高质量的治疗至关重要。
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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 Q3 ONCOLOGY 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

Background: 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.

Methods: 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.

Results: 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).

Conclusion: 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.

背景:肝细胞癌(HCC)是慢性肝硬化的结果,这两种疾病都很难诊断和区分。方法:我们利用高通量测序技术分析了 36 例 HCC 肿瘤样本和 10 例肝硬化(LC)组织活检样本的 B 细胞受体(BCR)谱系,以了解肝癌发生过程中的免疫改变:结果:主成分分析(PCA)显示,HCC 的 BCR 模式与 LC 不同。用克隆性指数和香农指数衡量,HCC 中 BCR 复合物的多样性明显低于 LC(P < 0.01):我们的研究结果证实了 BCR 的多样性和组成与肝癌的发生密切相关。结论:我们的研究结果证实,BCR的多样性和组成与肝癌的发生密切相关,在不久的将来,BCR复合物可用于预测HCC的进展和设计靶向免疫疗法。
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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 Q3 ONCOLOGY 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

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

背景:对免疫检查点抑制剂(ICIs)反应预测因素的需求与日俱增。最近的研究表明,对 ICIs 反应的增强与较高的体重指数(BMI)有关。本研究旨在评估实体瘤患者对 ICIs 的反应与体重指数之间的关系:我们对一家学术中心接受 ICIs 治疗的晚期癌症患者进行了回顾性分析。我们比较了体重不足/体重正常患者的治疗反应(BMI 结果):共对 113 名患者进行了评估。47名患者(41.6%)的体重指数为正常体重:我们的研究发现,体重指数与 ICIs 反应之间没有相关性。有必要进行更多的前瞻性研究,以评估 BMI 对 ICIs 反应的影响。
{"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}
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 4.6 4区 医学 Q3 ONCOLOGY 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

Introduction: Germline pathogenic mutations in TP53 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.

Case description: We report three cases of patients affected by Li Fraumeni syndrome who developed non-small cell lung cancer with EGFR or HER2 exon 20 insertions. The first patient suffered from liposarcoma and, then, brain metastases from HER2-mutated non-small cell lung cancer: after stereotactic radiotherapy, he benefited from enrollment in a clinical trial with a HER2-targeted therapy. The second young patient was a female with personal history of rhabdomyosarcoma, diagnosed with brain metastases from EGFR-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 EGFR-mutated non-small cell lung cancer at a young age.

Conclusions: 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 TP53 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.

导言TP53基因的种系致病突变与一种称为李-弗劳米尼综合征的癌症易感综合征有关。病例描述:我们报告了三例李-弗劳米综合征患者,他们都患上了非小细胞肺癌:我们报告了三例李-弗劳米尼综合征患者,他们都患上了表皮生长因子受体(EGFR)或HER2外显子20插入的非小细胞肺癌。第一例患者患有脂肪肉瘤,随后又出现了HER2突变非小细胞肺癌的脑转移:经过立体定向放射治疗后,他参加了HER2靶向疗法的临床试验,并从中获益。第二例年轻患者是一名女性,曾患横纹肌肉瘤,被诊断为表皮生长因子受体(EGFR)突变的非小细胞肺癌脑转移:参加临床试验后,患者暂时获得了临床获益。最后一个病例是一名女性,在年轻时被诊断出患有乳腺癌、卵巢颗粒细胞瘤和表皮生长因子受体突变的非小细胞肺癌晚期:结论:受癌基因诱导的非小细胞肺癌影响且有阳性家族癌症病史的年轻患者应接受准确的遗传咨询,以寻找李-弗劳米尼综合征。TP53和HER家族受体酪氨酸激酶之间的潜在分子联系仍不清楚,但应始终对李-弗劳米尼综合征患者的肿瘤进行广泛的分子鉴定,以便为患者提供个性化的治疗方法。
{"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}
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