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Diagnosis and treatment of patients with breast cancer and mutation in the BRCA1/2 genes 乳腺癌患者的诊断和治疗与BRCA1/2基因突变
Q4 Medicine Pub Date : 2023-10-25 DOI: 10.5603/ocp.2023.0035
Joanna Kufel-Grabowska, Bartosz Wasąg
Breast cancer is the most common cancer among women in Poland and worldwide, second only to lung cancer in terms of mortality. Germline mutations account for approximately 5–10% of all breast cancer cases, with mutations in the BRCA1/2 genes being the most frequently identified. The presence of pathogenic variants in the BRCA1/2 genes is associated with a more than 60% risk of developing breast cancer, a 40–60% risk of ovarian cancer in women with a BRCA1 mutation, and a 13–30% risk in women with a BRCA2 variant. Breast cancer is often diagnosed at a younger age in BRCA1/2 mutation carriers. The prevalence and increased accessibility of genetic testing, especially next-generation sequencing, lead to a higher number of diagnosed individuals and healthy family members. Identifying a pathogenic variant in the BRCA1/2 genes, analyzing a family history, and genetic counseling enables the development of individual recommendations for further management. This article aims to present the diagnostic and therapeutic approach in breast cancer patients with a pathogenic variant in the BRCA1/2 genes.
乳腺癌是波兰和全世界妇女中最常见的癌症,死亡率仅次于肺癌。生殖系突变约占所有乳腺癌病例的5-10%,其中BRCA1/2基因突变是最常见的。BRCA1/2基因中致病性变异的存在与患乳腺癌的风险超过60%有关,BRCA1突变女性患卵巢癌的风险为40-60%,BRCA2突变女性患卵巢癌的风险为13-30%。在BRCA1/2突变携带者中,乳腺癌通常在较年轻时被诊断出来。基因检测的普及和可及性的提高,特别是下一代测序,导致确诊的个人和健康的家庭成员人数增加。确定BRCA1/2基因的致病变异,分析家族史,并进行遗传咨询,可以为进一步的管理提供个人建议。本文旨在介绍BRCA1/2基因致病性变异的乳腺癌患者的诊断和治疗方法。
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引用次数: 0
Ripretinib in the treatment of patients with advanced gastrointestinal stromal tumors (GIST) 利普雷替尼治疗晚期胃肠道间质瘤(GIST)
Q4 Medicine Pub Date : 2023-10-20 DOI: 10.5603/ocp.96771
Emilia Babula, Aleksandra Sikora, Paweł Sobczuk, Piotr Rutkowski
Gastrointestinal stromal tumors (GISTs) are relatively rare in the population (0.4 to 2 cases per 100 000 per year) and account for approximately 1–2% of gastrointestinal cancers. According to the latest 2020 World Health Organization (WHO) classification of sarcomas, all GISTs are malignant, regardless of their size or mitotic index. In the systemic treatment of GIST, KIT tyrosine kinase receptor and platelet-derived growth factor receptor (PDGFRA) inhibitors, such as imatinib, sunitinib, or regorafenib, are used. The effectiveness of imatinib is significantly reduced in the case of secondary mutations in the KIT gene. The latest drug from the group of KIT inhibitors, ripretinib, was the first to show efficacy against most mutations associated with resistance, as well as in wild-type GIST, in which mutations in KIT and PDGFRA are not found. Analysis of the INVICTUS study showed a beneficial effect of ripretinib at the recommended dose of 150 mg/day on progression-free survival (PFS) in patients with advanced or metastatic GIST previously treated with at least three other inhibitors. However, the preliminary results of the phase III INTRIGUE study did not show an improvement in PFS in patients receiving ripretinib compared to sunitinib in the second-line therapy of GIST patients. Ripretinib has a favorable and acceptable safety profile and is recommended for treating patients with advanced GIST in the fourth line of treatment. In this article, we summarize the most essential data on the efficacy and safety of ripretinib in treating GIST patients and the recommendations for its use.
胃肠道间质瘤(gist)在人群中相对罕见(每年每10万人中有0.4至2例),约占胃肠道癌症的1-2%。根据世界卫生组织(WHO)最新的2020年肉瘤分类,所有gist都是恶性的,无论其大小或有丝分裂指数如何。在GIST的全身治疗中,使用KIT酪氨酸激酶受体和血小板衍生生长因子受体(PDGFRA)抑制剂,如伊马替尼、舒尼替尼或瑞非尼。在KIT基因继发性突变的情况下,伊马替尼的有效性显着降低。KIT抑制剂组中的最新药物利普雷替尼(ripretinib)首次显示出对大多数与耐药相关的突变以及未发现KIT和PDGFRA突变的野生型GIST有效。INVICTUS研究的分析显示,推荐剂量为150mg /天的利普雷替尼对先前接受过至少三种其他抑制剂治疗的晚期或转移性GIST患者的无进展生存期(PFS)有有益影响。然而,III期研究的初步结果显示,与舒尼替尼相比,接受利普雷替尼的胃肠道间质瘤患者的PFS在二线治疗中没有改善。利普雷替尼具有良好且可接受的安全性,被推荐用于晚期GIST患者的第四线治疗。在这篇文章中,我们总结了利普雷替尼治疗胃肠道间质瘤患者的有效性和安全性的最重要的数据和使用的建议。
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引用次数: 0
Diagnostic and therapeutic management of cancer patients with pain: recommendations of the Expert Group of the Polish Association for Palliative Care, Polish Association for the Study of Pain, and Polish Association of Clinical Oncology 癌症患者疼痛的诊断和治疗管理:波兰姑息治疗协会、波兰疼痛研究协会和波兰临床肿瘤协会专家组的建议
Q4 Medicine Pub Date : 2023-10-20 DOI: 10.5603/ocp.2023.0029
Wojciech Leppert, Jerzy Wordliczek, Małgorzata Malec-Milewska, Mahdalena Kocot-Kępska, Jarosław Woroń, Renata Zajączkowska, Jan Dobrogowski, Maciej Krzakowski, Małgorzata Krajnik
In order to elaborate diagnostic and therapeutic recommendations regarding the management of cancer patients with pain, a narrative review of the literature in PubMed and Cochrane database was conducted for the period of 2000–2022. An Expert Group of three scientific associations: Polish Association of Palliative Care, Polish Association for the Study of Pain, and Polish Association of Clinical Oncology was appointed, which made a literature review and formulated guidelines with strength of recommendations and quality of evidence. To achieve optimal effect of pain treatment cancer patients require complex clinical assessment of pain with detailed recognition of pathophysiology, intensity and time frame (baseline and breakthrough — episodic) of pain. Pain evaluation should encompass other symptoms, comorbidities, disturbances in psychological, social, and spiritual dimensions, which may induce patients’ suffering and total pain appearance. An important role plays anticancer local and systemic treatment, which may induce or exacerbate pain induced by cancer or comorbidities. A standard approach in patients with chronic pain in the course of cancer and other diseases is based on World Health Organization (WHO) analgesic ladder algorithm, which is supplemented with non-pharmacological management. It is recommended an individual approach in pain treatment depending on clinical situation of a concrete patient. Efforts should be made to effectively manage other symptoms, which accompany cancer. An introduction of specific treatment taking into account given pathophysiology, time frame and intensity of pain increase effectiveness and significantly shorten time necessary to achieve effective analgesia, and moreover contribute to decrease intensity and frequency of adverse effects of analgesics used.
为了详细阐述癌症患者疼痛管理的诊断和治疗建议,我们对PubMed和Cochrane数据库2000-2022年期间的文献进行了叙述性回顾。任命由波兰姑息治疗协会、波兰疼痛研究协会和波兰临床肿瘤协会三个科学协会组成的专家组,对文献进行综述,制定具有建议力度和证据质量的指南。为了达到最佳的疼痛治疗效果,癌症患者需要对疼痛进行复杂的临床评估,详细了解疼痛的病理生理、强度和时间框架(基线和突破-发作)。疼痛评估应包括其他症状、合并症、心理、社会和精神方面的干扰,这些可能导致患者的痛苦和疼痛的外观。局部和全身的抗癌治疗可能会诱发或加重癌症或合并症引起的疼痛。癌症和其他疾病过程中慢性疼痛患者的标准方法是基于世界卫生组织(WHO)镇痛阶梯算法,并辅以非药物管理。建议根据具体患者的临床情况采取个体化的疼痛治疗方法。应该努力有效地控制伴随癌症的其他症状。考虑到给定的病理生理、时间框架和疼痛强度的特定治疗方法的引入提高了有效性,显著缩短了实现有效镇痛所需的时间,而且有助于减少使用镇痛药的不良反应的强度和频率。
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引用次数: 0
Convolutional neural networks in auto-segmentation of nasopharyngeal carcinoma tumor — a systematic review and meta-analysis 卷积神经网络在鼻咽癌肿瘤自动分割中的应用综述及meta分析
Q4 Medicine Pub Date : 2023-10-17 DOI: 10.5603/ocp.2023.0040
Maryam Zamanian, Iraj Abedi
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引用次数: 0
Cardiac metastasis of lung cancer diagnosed by fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) 氟-18氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描(18F-FDG PET/CT)诊断肺癌心脏转移
Q4 Medicine Pub Date : 2023-10-17 DOI: 10.5603/ocp.95808
Yassir Benameur, Salah Nabih Oueriagli, Omar Ait Sahel, Abderrahim Doudouh
Lung cancer is currently one of the most common malignancies worldwide. Among all metastatic sites of this cancer, cardiac metastases are exceptional, and long-term prognosis in these patients is very poor. 18F-FDG PET/CT is a valuable imaging tool for initial staging and assessment of treatment response of various neoplasms. In the case of lung cancer, its role is clearly defined, and its effectiveness is superior to other diagnostic imaging methods. We present a rare 18F-FDG PET/CT image finding in a 71-year-old man with biopsy-proven lung squamous cell carcinoma, showing increased cardiac 18F-FDG uptake subsequently found to be compatible cardiac metastasis.
肺癌是目前世界上最常见的恶性肿瘤之一。在这种癌症的所有转移部位中,心脏转移是罕见的,这些患者的长期预后非常差。18F-FDG PET/CT是一种有价值的影像学工具,用于各种肿瘤的初始分期和治疗反应评估。在肺癌的情况下,其作用明确,其有效性优于其他诊断成像方法。我们在一例71岁男性活检证实的肺鳞状细胞癌中发现罕见的18F-FDG PET/CT图像,显示心脏18F-FDG摄取增加,随后发现相容的心脏转移。
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引用次数: 0
Management of melanoma central nervous system metastases 中枢神经系统转移黑色素瘤的治疗
Q4 Medicine Pub Date : 2023-10-17 DOI: 10.5603/ocp.2023.0042
Piotr Rutkowski, Dorota Kiprian, Tomasz Świtaj, Radosław Michalik, Mateusz Spałek, Katarzyna Kozak, Tomasz Mandat, Bożena Cybulska-Stopa, Monika Dudzisz-Śledź
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引用次数: 0
Non-drug related costs of treatment with pertuzumab and trastuzumab in HER2-positive breast cancer patients in Poland 波兰her2阳性乳腺癌患者使用帕妥珠单抗和曲妥珠单抗治疗的非药物相关费用
Q4 Medicine Pub Date : 2023-10-10 DOI: 10.5603/ocp.97426
Michał Seweryn, Tomasz Banaś, Joanna Augustyńska, Agnieszka Leszczyńska, Paweł M. Potocki
Introduction. HER2-positive breast cancer represents 10–20% of all breast tumors. This study aimed to create a model-based cost-minimization analysis that compared non-drug related costs of different therapies used in the treatment of HER2-positive breast cancer in Poland: pertuzumab SC plus trastuzumab SC (Pert/TrasSC) vs. pertuzumab IV plus trastuzumab IV (PertIV + TrasIV) vs. pertuzumab IV plus trastuzumab SC (PertIV + TrasSC). Material and methods. The cost-minimization analysis was based on the results of a questionnaire addressed to leading oncology centers in Poland. The model was broken down into three categories of cost savings: reduced labor costs of nurses, pharmacists and non-drug related consumables, and from two categories of treatment time reduction: occupation of infusion chair and duration of hospital stay. Data on resources used and costs were collected in the first half of 2022. Results. Data were obtained from four oncology centers. The savings generated per patient from healthcare personnel’s work and from non-drug consumables for the Pert/TrasSC arm were 178 PLN compared to PertIV + TrasIV and 168 PLN compared to PertIV + TrasSC. Full adaptation of Pert/TrasSC was estimated to result in average 8-fold higher savings in healthcare personnel workload per patient and in a treatment capacity increase of 241 patients. Conclusions. Our model shows that Pert/TrasSC treatment is associated with significantly lower labor costs for nurses and pharmacists and lower costs of non-drug consumables compared to the other treatment options. Moreover, it reduced patients’ chair time due to shorter administration/observation time and released capacity in chemotherapy infusion sites.
介绍。her2阳性乳腺癌占所有乳腺肿瘤的10-20%。本研究旨在创建一个基于模型的成本最小化分析,比较波兰用于治疗her2阳性乳腺癌的不同疗法的非药物相关成本:帕妥珠单抗SC +曲妥珠单抗SC (Pert/TrasSC)、帕妥珠单抗IV +曲妥珠单抗IV (PertIV + TrasIV)、帕妥珠单抗IV +曲妥珠单抗SC (PertIV + TrasSC)。材料和方法。成本最小化分析是基于对波兰主要肿瘤中心的问卷调查结果。该模型将成本节约分为三个类别:减少护士、药剂师和非药物相关耗材的人工成本;从减少输液椅占用和住院时间两个类别中减少治疗时间。有关资源使用和成本的数据是在2022年上半年收集的。结果。数据来自四个肿瘤中心。与PertIV + TrasIV相比,Pert/TrasSC组的每位患者从医护人员的工作和非药物耗材中节省的费用为178 PLN,与PertIV + TrasSC相比为168 PLN。据估计,全面采用Pert/TrasSC可使每位患者的医护人员工作量平均节省8倍,并使治疗能力增加241名患者。结论。我们的模型显示,与其他治疗方案相比,Pert/TrasSC治疗与护士和药剂师的劳动力成本显著降低以及非药物耗材成本降低有关。此外,由于更短的给药/观察时间和化疗输液部位的释放能力,减少了患者的椅子时间。
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引用次数: 0
Commentary on Encorafenib plus cetuximab in patients with BRAFV600E-mutated metastatic colorectal cancer — Polish multicenter experience 恩科非尼联合西妥昔单抗治疗brafv600e突变的转移性结直肠癌——波兰多中心经验
Q4 Medicine Pub Date : 2023-10-10 DOI: 10.5603/ocp.97067
Barbara Radecka
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引用次数: 0
Encorafenib plus cetuximab in patients with BRAFV600E-mutated metastatic colorectal cancer — Polish multicenter experience 恩科非尼加西妥昔单抗治疗brafv600e突变的转移性结直肠癌-波兰多中心经验
Q4 Medicine Pub Date : 2023-10-10 DOI: 10.5603/ocp.96898
Marek Gełej, Patryk Zając, Maria Dąbrowska, Anna Dejws-Wątróbowska, Bogumiła Galińska, Łukasz Galus, Agnieszka Gwóźdź-Cieślik, Katarzyna Hetman, Maciej Kawecki, Mateusz Malik, Joanna Streb, Katarzyna Wierzbicka, Piotr Wiosek, Barbara Radecka
Introduction. The BRAF mutation occurs in 8–12% of patients with colorectal cancer. This is associated with unfavorable prognosis — in metastatic disease, median survival does not exceed one year. Molecularly targeted treatment — encorafenib with cetuximab — is the standard of care in cases of chemotherapy failure. Material and methods. Medical data of 18 patients treated with encorafenib and cetuximab in 2021–2023 in 10 oncology centers in Poland were assessed. We analyzed clinical, pathomorphological, and molecular factors, as well as the effectiveness and safety of treatment. Results. The median age in the group was 63 years. Patients with metastases limited to one location predominated (78%). Treatment with encorafenib and cetuximab was used not only in the third (in 50% of patients) or fourth (in 28%) lines of treatment but also in the second (in 22%). The objective response rate was 29.4%, and the disease control rate was 76.4%. Due to the short follow-up period, median progression-free survival was not reached. Four patients (22%) had a response lasting over 12 months. Conclusions. This study confirmed the efficacy and safety of targeted treatment with encorafenib and cetuximab in patients with metastatic colorectal cancer with the BRAF V600E mutation.
介绍。BRAF突变发生在8-12%的结直肠癌患者中。这与不良预后有关——在转移性疾病中,中位生存期不超过一年。分子靶向治疗——恩科非尼联合西妥昔单抗——是化疗失败病例的标准治疗方案。材料和方法。对波兰10个肿瘤中心2021-2023年接受恩科非尼和西妥昔单抗治疗的18例患者的医疗数据进行评估。我们分析了临床、病理形态学和分子因素,以及治疗的有效性和安全性。结果。研究对象的中位年龄为63岁。局限于一个部位转移的患者占多数(78%)。用encorafenib和西妥昔单抗治疗不仅用于第三(50%的患者)或第四(28%的患者)治疗,而且用于第二(22%)治疗。客观有效率为29.4%,疾病控制率为76.4%。由于随访时间短,中位无进展生存期未达到。4例患者(22%)的缓解持续时间超过12个月。结论。本研究证实了恩科非尼联合西妥昔单抗靶向治疗BRAF V600E突变转移性结直肠癌患者的有效性和安全性。
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引用次数: 0
Sotorasib for non-small cell lung cancer — current options and perspectives Sotorasib治疗非小细胞肺癌-目前的选择和观点
Q4 Medicine Pub Date : 2023-10-02 DOI: 10.5603/ocp.97414
Magdalena Knetki-Wróblewska, Bartosz Wasąg
KRAS regulates several cellular processes, such as cell proliferation, cell cycle regulation, metabolic changes, cell survival, and cell differentiation. Abnormalities in the KRAS gene are found in approximately 30% of patients with non-small cell lung cancer, usually in patients diagnosed with nonsquamous cancer and more often in Caucasian patients, women, and smokers. The p.G12C variant is most frequently found in KRAS-positive patients. Sotorasib is the first drug approved for this population. The superiority of sotorasib over docetaxel after failure of immunochemotherapy was demonstrated in the CodeBreak 200 phase III study for the primary endpoint — median progression-free survival was 5.6 months [95% confidence interval (CI) 4.3–7.8] vs . 4.5 months (3.0–5.7); hazard ratio = 0.66 (95% CI 0.51–0.86; p = 0–0017), while the 12-month progression-free survival rate was 24.8% for sotorasib and 10.1% for docetaxel. Currently, sotorasib monotherapy, at an initial dose of 960 mg/day, is indicated for use in adults with advanced non-small cell lung cancer with the KRAS p.G12C mutation who have experienced disease progression after at least one previous line of systemic treatment. More randomized trials are needed to determine the optimal place of sotorasib in the systemic treatment sequence in this patient population.
KRAS调节多种细胞过程,如细胞增殖、细胞周期调节、代谢变化、细胞存活和细胞分化。KRAS基因异常在大约30%的非小细胞肺癌患者中发现,通常在诊断为非鳞状癌的患者中,更常见于高加索患者、女性和吸烟者。p.G12C变异最常见于kras阳性患者。Sotorasib是首个被批准用于这一人群的药物。CodeBreak 200 III期研究证明了免疫化疗失败后sotorasib优于多西他赛的主要终点-中位无进展生存期为5.6个月[95%置信区间(CI) 4.3-7.8] vs。4.5个月(3.0-5.7);风险比= 0.66 (95% CI 0.51-0.86);P = 0-0017),而索托拉西布的12个月无进展生存率为24.8%,多西他赛为10.1%。目前,sotorasib单药治疗的初始剂量为960 mg/天,适用于患有KRAS p.G12C突变的晚期非小细胞肺癌成人患者,这些患者在既往至少一次全身治疗后经历了疾病进展。需要更多的随机试验来确定sotorasib在该患者群体的全身治疗顺序中的最佳位置。
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引用次数: 0
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Oncology in Clinical Practice
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