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Guidelines for Clinicians and Pathologists on Performing Skin Biopsies and Reporting on Suspected Cutaneous Squamous Cell Carcinoma. 临床医生和病理学家进行皮肤活检和报告疑似皮肤鳞状细胞癌的指南。
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-04 DOI: 10.3390/curroncol32120689
May Chergui, Margaret Redpath, Chang Shu Wang, Alex Mlynarek, Khashayar Esfahani, Stephanie Thibaudeau, Khalil Sultanem, Joël Claveau

Cutaneous squamous cell carcinoma (CSCC) is the second most common skin cancer after basal cell carcinoma. When squamous cell carcinomas in situ are included, nonmelanoma skin cancer incidence is nearly equal between CSCC and basal cell carcinoma. The incidence of CSCC has been increasing worldwide in recent decades, and despite the effectiveness of office-based therapies, patients with high-risk lesions associated with advanced CSCC face high rates of recurrence and mortality. This underscores the importance of accurate diagnoses and clear criteria to define high-risk lesions for prognosis and better treatment strategies. However, variability exists in CSCC registration practices internationally, and differences in pathology reporting likely contribute to an underestimate of the true burden of disease. Thus, there is a need to refine elements included in skin biopsy reports to provide a precise representation of the high-risk features of CSCC to improve patient care. In this review, a multidisciplinary group of Canadian experts discuss clinical considerations and provide key guidance and practical strategies surrounding skin biopsy techniques, completion of requisition forms, and dermatopathology reports for CSCC. This article summarizes the expert panel's recommendations with the goal of improving diagnosis and pathological reporting of biopsy specimens to achieve better patient outcomes for CSCC.

皮肤鳞状细胞癌(CSCC)是仅次于基底细胞癌的第二常见的皮肤癌。当包括原位鳞状细胞癌时,非黑色素瘤皮肤癌的发病率在CSCC和基底细胞癌之间几乎相等。近几十年来,CSCC的发病率在全球范围内不断增加,尽管基于办公室的治疗方法有效,但晚期CSCC相关高危病变患者面临高复发率和死亡率。这强调了准确的诊断和明确的标准来定义高风险病变的预后和更好的治疗策略的重要性。然而,国际间CSCC登记实践存在差异,病理报告的差异可能导致低估疾病的真实负担。因此,有必要完善皮肤活检报告中包含的元素,以提供CSCC高风险特征的精确表示,以改善患者护理。在这篇综述中,一个由加拿大专家组成的多学科小组讨论了CSCC的临床考虑,并就皮肤活检技术、填写申请表和皮肤病理报告提供了关键指导和实用策略。本文总结了专家小组的建议,目的是改善活检标本的诊断和病理报告,以获得更好的CSCC患者预后。
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引用次数: 0
The Surveillance After Extremity Tumor Surgery (SAFETY) Pilot International Multi-Center Randomized Controlled Trial. 肢体肿瘤手术后监测(SAFETY)国际多中心随机对照试验先导。
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-04 DOI: 10.3390/curroncol32120686
Hadia Farrukh, Patricia Schneider, Tess Hudson, Victoria Giglio, Ricardo Gehrke Becker, Samir Sabharwal, Kimmen Quan, Valerie Francescutti, Mira Goldberg, Sheila Sprague, Michelle Ghert

Soft-tissue sarcomas (STSs) are rare malignancies predominantly found in the extremities. Surgery and radiation are standard treatments, but post-operative pulmonary surveillance, involving clinical visits and thoracic imaging, is crucial due to a high recurrence rate, most commonly to the lungs. Current pulmonary surveillance guidelines lack robust evidence. The Surveillance AFter Extremity Tumor SurgerY (SAFETY) randomized controlled trial is designed to determine the impact of pulmonary surveillance frequency (every three versus six months) and chest imaging modality (CXR versus CT) on patient-important outcomes. The pilot phase assessed feasibility of patient enrolment, protocol adherence, and data quality, as well as aggregate outcomes at two years of follow-up. 100 patients were enrolled from 300 screened patients across 17 international sites. Minor protocol deviations were common. Follow-up, data completeness and data quality met the progression criteria of 85%. Of the 100 patients, 15 died, 21 had metastases, seven had local recurrence and 30 experienced at least one serious adverse event. This SAFETY trial study established feasibility of enrolment and data quality, and confirmed the need to emphasize protocol adherence in sarcoma care. The results of this trial are expected to provide crucial evidence to standardize STS pulmonary surveillance practices, ultimately improving patient management and expectations.

软组织肉瘤(STSs)是一种罕见的恶性肿瘤,主要见于四肢。手术和放疗是标准的治疗方法,但术后肺部监测,包括临床就诊和胸部成像,是至关重要的,因为复发率高,最常见的是肺部。目前的肺监测指南缺乏强有力的证据。肢体肿瘤手术后监测(SAFETY)随机对照试验旨在确定肺部监测频率(每3个月对6个月)和胸部成像方式(CXR对CT)对患者重要预后的影响。试验阶段评估了患者入组的可行性、方案依从性和数据质量,以及两年随访的总结果。从17个国际站点的300名筛选患者中招募了100名患者。小的协议偏差是常见的。随访,数据完整性和数据质量均达到85%的进展标准。在100例患者中,15例死亡,21例转移,7例局部复发,30例至少发生一次严重不良事件。这项安全性试验研究确定了入组的可行性和数据质量,并证实了在肉瘤治疗中强调方案依从性的必要性。该试验的结果有望为标准化STS肺部监测实践提供关键证据,最终改善患者管理和期望。
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引用次数: 0
From Fear to Adaptation: The Journey of Patients with Liver Cancer Living with the Fear of Cancer Recurrence. 从恐惧到适应:肝癌患者生活在癌症复发恐惧中的旅程。
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-04 DOI: 10.3390/curroncol32120687
Eunjin Jo, Ka Ryeong Bae

The study aimed to understand how patients with liver cancer experience and adapt to the fear of cancer recurrence, providing insights into psychological processes and strategies that can inform psycho-oncology research and interventions. In-depth interviews were conducted with 13 patients with liver cancer from December 2019 to February 2020 and analyzed using Colaizzi's phenomenological method. Four theme clusters emerged: (1) "Inevitable reality of recurrence," which highlighted the acceptance of recurrence; (2) "Amplified fears," which reflected heightened emotional distress; (3) "Changes in daily life driven by fear," which illustrated lifestyle changes driven by uncertainty; and (4) "Living with fear," which described adaptive strategies and resilience. The findings highlight the need for targeted psycho-oncological approaches to address the fear of cancer recurrence in patients with liver cancer, supporting the development of resilience and enhancing their overall quality of life. Further research is essential to design tailored strategies that reduce psychological distress and promote long-term survivorship.

该研究旨在了解肝癌患者如何体验和适应对癌症复发的恐惧,为心理肿瘤研究和干预提供心理过程和策略的见解。2019年12月至2020年2月对13例肝癌患者进行深度访谈,采用Colaizzi现象学方法进行分析。出现了四个主题组:(1)“不可避免的再现现实”,突出了对再现的接受;(2)“恐惧放大”,反映出情绪困扰加剧;(3)“恐惧驱动的日常生活变化”,说明不确定性驱动的生活方式变化;(4)“生活在恐惧中”,描述了适应策略和恢复力。研究结果强调,需要有针对性的心理肿瘤学方法来解决肝癌患者对癌症复发的恐惧,支持恢复力的发展,提高他们的整体生活质量。进一步的研究是必要的,以设计量身定制的策略,减少心理困扰,促进长期生存。
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引用次数: 0
Predictive Relationships Between Death Anxiety and Fear of Cancer Recurrence in Patients with Breast Cancer: A Cross-Lagged Panel Network Analysis. 乳腺癌患者死亡焦虑与癌症复发恐惧之间的预测关系:一个交叉滞后的面板网络分析
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-03 DOI: 10.3390/curroncol32120685
Furong Chen, Ying Xiong, Siyu Li, Qihan Zhang, Yiguo Deng, Zhirui Xiao, M Tish Knobf, Zengjie Ye

The aim of this study was to explore the longitudinal relationship between death anxiety (DA) and fear of cancer recurrence (FCR) in women newly diagnosed with breast cancer at baseline and 3 months post-discharge. A total of 426 women with breast cancer completed the Templer's Death Anxiety Scale and the Fear of Cancer Recurrence Inventory at hospital discharge and 3 months later. Cross-lagged panel analysis (CLPA) was used to describe the relationship of the two variables (DA and FCR) over time and identify the optimal intervention symptom nodes for breast cancer patients in different stages. The findings suggest that the specific symptoms of DA, known as "cognition", predict the subsequent symptom development for a variety of mental health problems in the network structure. The "Psychological distress" symptom in FCR is the most susceptible to other symptoms. In addition, death-related cognition may be a bridge symptom that connects the co-occurrence of DA and FCR. Death-related "time awareness" is the optimal symptom node for intervention in early-stage breast cancer patients, while it is "cognition" in advanced patients. The death-related cognition and emotional regulation of death may be the best target for interventions among breast cancer patients, considering their DA coincides with FCR. The best intervention for patients with early-stage breast cancer may be the time awareness of death, while it may be more effective for patients with advanced cancer to be educated about disease and death, as well as to enhance correct perception.

本研究的目的是探讨在基线和出院后3个月新诊断为乳腺癌的妇女中死亡焦虑(DA)和癌症复发恐惧(FCR)之间的纵向关系。426例乳腺癌患者在出院时和3个月后分别完成坦普勒死亡焦虑量表和癌症复发恐惧量表。采用交叉滞后面板分析(cross -lag panel analysis, CLPA)描述DA和FCR两个变量随时间的关系,确定不同分期乳腺癌患者的最佳干预症状节点。研究结果表明,被称为“认知”的特定DA症状可以预测网络结构中各种心理健康问题的后续症状发展。FCR中的“心理困扰”症状是最易受其他症状影响的。此外,死亡相关认知可能是连接DA和FCR同时发生的桥梁症状。死亡相关的“时间意识”是早期乳腺癌患者干预的最佳症状节点,而在晚期乳腺癌患者中是“认知”。考虑到乳腺癌患者的DA与FCR重合,死亡相关认知和死亡情绪调节可能是乳腺癌患者干预的最佳目标。对早期乳腺癌患者最好的干预可能是对死亡的时间意识,而对晚期癌症患者进行疾病和死亡的教育,增强正确的认知,可能会更有效。
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引用次数: 0
A Rare Case of Metastatic Urethral Squamous Cell Carcinoma Presenting with Paraneoplastic Sweet Syndrome and Treated with Pembrolizumab. 一例罕见的转移性尿道鳞状细胞癌以副肿瘤性Sweet综合征为表现,经派姆单抗治疗。
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-03 DOI: 10.3390/curroncol32120683
Dan-Thanh Christine Nguyen, Zineb Hamilou, Evelyne Bonnardeaux, Normand Blais, Manon de Vries-Brilland

Primary urethral cancer is an extremely rare malignancy, accounting for less than 1% of all cancers. Due to its rarity, evidence-based treatment recommendations are lacking. We report the case of a 44-year-old woman with metastatic squamous cell urethral carcinoma and paraneoplastic Sweet syndrome. The tumor was p16-positive with strong PD-L1 expression (CPS > 50%). Following surgery and adjuvant chemoradiotherapy, the patient developed hepatic and lymph node metastases. Pembrolizumab was initiated as first-line systemic therapy because of prior hematologic toxicity with cisplatin. After four cycles, complete radiologic remission of metastases and full resolution of the Sweet syndrome were achieved. This case highlights the potential benefit of immune checkpoint inhibitors in metastatic urethral SCC, particularly in p16-positive and PD-L1-high tumors, suggesting an inflamed and immunogenic microenvironment. To our knowledge, this is the first reported case of paraneoplastic Sweet syndrome successfully treated with pembrolizumab. These findings underscore the need for further investigation of immunotherapy in this rare and challenging malignancy.

原发性尿道癌是一种极为罕见的恶性肿瘤,占所有癌症的不到1%。由于罕见,缺乏循证治疗建议。我们报告的情况下,44岁的妇女转移性鳞状细胞尿道癌和副肿瘤甜综合征。肿瘤p16阳性,PD-L1强表达(CPS > 50%)。手术和辅助放化疗后,患者出现肝脏和淋巴结转移。由于先前的顺铂血液学毒性,派姆单抗开始作为一线全身治疗。四个周期后,转移的放射学完全缓解和Sweet综合征的完全解决。该病例强调了免疫检查点抑制剂在转移性尿道SCC中的潜在益处,特别是在p16阳性和pd - l1高的肿瘤中,提示炎症和免疫原性微环境。据我们所知,这是首例用派姆单抗成功治疗副肿瘤Sweet综合征的病例。这些发现强调了进一步研究这种罕见且具有挑战性的恶性肿瘤的免疫治疗的必要性。
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引用次数: 0
Breast Cancer Therapy by Small-Molecule Reactivation of Mutant p53. 突变型p53小分子再激活治疗乳腺癌。
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-03 DOI: 10.3390/curroncol32120684
Simon H Slight, Salman M Hyder

Tumor suppressor p53 is essential for maintaining DNA stability and preventing cancer. Under normal conditions, the p53 protein is either degraded or bound to a negative regulator, rendering it inactive, but when DNA damage occurs, p53 is activated, causing cell cycle arrest and allowing time for cellular repair. If, however, DNA damage is too severe, the cell undergoes apoptosis and is eliminated. Mutations in the p53 gene are linked to various types of cancer and are present in 30-40% of human breast cancers, leading to loss of tumor suppressor function and uncontrolled tumor growth. Moreover, in triple-negative breast cancer (TNBC), a particularly deadly form of the disease, the incidence of p53 mutations increases to 70-80%. Many p53 mutations occur in the DNA binding domain of the p53 gene, leading to accumulation of mutant p53 (mtp53) within the cell, and tumor development. Converting mtp53 back to its functional wild-type form (wtp53) is consequently a rational approach to preventing or even reversing tumor growth. Mechanisms of action of tumor suppressor p53 are widely discussed elsewhere; hence, we will focus on our own studies, using small molecule activators of mtp53 to combat breast cancer. We will show that specific small molecules, such as PRIMA-1 (p53 reactivation and induction of mass apoptosis), reactivate mtp53 in hormone-dependent human breast cancer cells. Furthermore, we will demonstrate the effectiveness of PRIMA-1 at arresting xenograft growth in an animal model and go on to show that the PRIMA-1 analog APR-246 effectively restores wtp53 tumor suppressor activity in TNBC cells. A brief overview of current clinical trials aimed at reactivating p53 to treat certain cancers is provided. Finally, we discuss the possible use of naturally occurring compounds, which are generally non-toxic, to reactivate mutant p53 and control TNBC progression.

肿瘤抑制因子p53对维持DNA稳定和预防癌症至关重要。在正常情况下,p53蛋白要么被降解,要么与负调节因子结合,使其失去活性,但当DNA发生损伤时,p53被激活,导致细胞周期停滞,并为细胞修复留出时间。然而,如果DNA损伤太严重,细胞就会发生凋亡并被消灭。p53基因的突变与各种类型的癌症有关,存在于30-40%的人类乳腺癌中,导致肿瘤抑制功能丧失和肿瘤生长不受控制。此外,在三阴性乳腺癌(TNBC)中,一种特别致命的疾病,p53突变的发生率增加到70-80%。许多p53突变发生在p53基因的DNA结合区域,导致突变型p53 (mtp53)在细胞内的积累,从而导致肿瘤的发生。因此,将mtp53转化为其功能性野生型(wtp53)是一种预防甚至逆转肿瘤生长的合理方法。肿瘤抑制因子p53的作用机制在其他地方被广泛讨论;因此,我们将专注于我们自己的研究,利用mtp53的小分子激活剂来对抗乳腺癌。我们将展示特异性小分子,如PRIMA-1 (p53再激活和诱导大量凋亡),在激素依赖性的人乳腺癌细胞中重新激活mtp53。此外,我们将在动物模型中证明PRIMA-1在抑制异种移植物生长方面的有效性,并继续证明PRIMA-1类似物APR-246在TNBC细胞中有效地恢复wtp53肿瘤抑制活性。简要概述了目前旨在重新激活p53以治疗某些癌症的临床试验。最后,我们讨论了可能使用天然存在的化合物,通常是无毒的,以重新激活突变p53和控制TNBC进展。
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引用次数: 0
Listening in: Identifying Considerations for Integrating Complementary Therapy into Oncology Care Across Patient, Clinic, and System Levels-A Case Example of a Digital Meditation Tool. 倾听:在患者、诊所和系统层面将补充疗法整合到肿瘤护理中的确定考虑因素——一个数字冥想工具的案例。
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-02 DOI: 10.3390/curroncol32120682
Alexandra Godinho, Sanvitti Dalmia, Krutika Joshi, Christina Seo, Suzi Laj, Francis Cacao, Lisa Lun, Pete Wegier, Punam Rana

Purpose: As cancer treatments and survival rates continue to improve, integrating supportive complementary therapies into oncology practice is increasingly important. Identifying patient- and clinic-level considerations can guide the selection and integration of evidence-based and effective therapies. Using the Behavioural Design Space (BDS), this study illustrates how a design framework can facilitate the identification of patient needs, clinic requirements, and system-level constraints prior to implementing a digital meditation tool (DMT). Methods: A cross-sectional survey of cancer patients in active treatment to assess distress, attitudes, barriers, and knowledge of meditation. Descriptive statistics and binary multivariate logistic regressions examined associations between patient characteristics and interest in meditation or using a DMT. Findings were mapped onto the six elements of the BDS framework in consultation with clinic staff. Results: Among 148 patients surveyed, 65% had never meditated, yet 42% expressed interest in using a DMT. Greater engagement in stress-coping activities was the strongest predictor of interest in both learning meditation and using a DMT. Female sex increased, while age decreased, the odds of interest in using a DMT. Conclusions: Integrating complementary therapies into oncology care requires attention to patient, clinic, and system-level factors. The BDS framework can guide the therapy/tool selection process by highlighting patient needs, potential barriers, and implementation challenges. Future work should focus on operationalizing the BDS into a practical decision-making tool for healthcare providers.

目的:随着癌症治疗和生存率的不断提高,将支持性补充疗法整合到肿瘤学实践中变得越来越重要。确定患者和临床层面的考虑可以指导循证有效疗法的选择和整合。使用行为设计空间(BDS),本研究说明了设计框架如何在实施数字冥想工具(DMT)之前促进患者需求,诊所需求和系统级约束的识别。方法:对积极治疗的癌症患者进行横断面调查,评估其痛苦程度、态度、障碍和冥想知识。描述性统计和二元多元逻辑回归检验了患者特征与冥想或使用DMT的兴趣之间的关联。在与诊所工作人员协商后,将调查结果映射到BDS框架的六个要素。结果:在148名接受调查的患者中,65%从未冥想过,但42%表示有兴趣使用DMT。更多地参与压力应对活动是对学习冥想和使用DMT感兴趣的最强预测因子。女性对使用DMT感兴趣的几率增加,而年龄减少。结论:将补充疗法整合到肿瘤护理中需要关注患者、临床和系统层面的因素。BDS框架可以通过突出患者需求、潜在障碍和实施挑战来指导治疗/工具选择过程。未来的工作应侧重于使北斗系统成为医疗保健提供者的实用决策工具。
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引用次数: 0
Socio-Demographic Inequalities in Diagnostic Delays of Breast Cancer: A Multistage Time-to-Diagnosis Analysis. 乳腺癌诊断延迟的社会人口不平等:多阶段诊断时间分析。
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-01 DOI: 10.3390/curroncol32120674
Oana Maria Burciu, Tudor Gramada, Smaranda Gramada-Stefurac, Raluca-Alina Plesca, Cristina Macuc, Andreea-Lucia Viforeanu, Ioan Sas, Aida Iancu, Adrian-Grigore Merce, Ionut Marcel Cobec, Gabriel Mihail Dimofte

Background/objectives: Introduction: Breast cancer remains a leading cause of cancer morbidity and mortality among women, and timely diagnosis is critical for improving outcomes. Organized screening programs strive to function efficiently, with minimal delays; however, evidence indicates that longer waiting times may be present at different stages of the diagnostic process. Few studies have evaluated how socio-demographic, reproductive, lifestyle, and clinical characteristics may influence diagnostic timeliness in a regional screening context.

Materials and methods: We retrospectively analyzed data from 240 women who underwent breast biopsy following abnormal screening assessment, out of 24,000 patients enrolled in a regional breast cancer screening program conducted in Northeastern and Southeastern Romania. Diagnostic timeliness was observed across three consecutive intervals of the screening pathway: mammography to biopsy (T1), biopsy to histopathological confirmation (T2), and cumulative presentation-to-diagnosis time (T3). Baseline population characteristics were described, subgroup comparisons performed, and multivariable regression models applied to identify independent predictors of diagnostic delay and to explore interaction effects at different stages of the screening process.

Results: The interval between mammography and biopsy accounted for the most substantial waiting times (T1 median 24 days). The cumulative time to diagnosis (T3) reached a median of 32 days. Territorial inequalities were the strongest determinant of delay: rural patients experienced approximately five additional days before histopathological confirmation compared with urban patients (p = 0.003). Social vulnerability further contributed to prolonged T1 and T3 intervals, while lifestyle, reproductive, and anthropometric factors showed only minor or inconsistent associations. Interaction analyses revealed that delays linked to rural residence were most pronounced among younger women, an age group at higher risk for aggressive subtypes such as triple-negative breast cancer.

Conclusions: In our findings, regional background and social vulnerability outweighed individual risk factors in shaping total diagnostic time. These results support the careful monitoring of interval-specific performance to strengthen equitable access to biopsy among vulnerable populations, where the effectiveness of early breast cancer detection is often challenged.

背景/目的:简介:乳腺癌仍然是女性癌症发病率和死亡率的主要原因,及时诊断对改善预后至关重要。有组织的筛查项目努力有效运作,尽量减少延误;然而,有证据表明,在诊断过程的不同阶段,等待时间可能更长。很少有研究评估社会人口、生殖、生活方式和临床特征如何影响区域筛查的诊断及时性。材料和方法:我们回顾性分析了在罗马尼亚东北部和东南部参加区域性乳腺癌筛查项目的24000名患者中,240名在异常筛查评估后接受乳腺活检的妇女的数据。通过筛查途径的三个连续间隔观察诊断及时性:乳房x线摄影到活检(T1),活检到组织病理证实(T2),以及累计表现到诊断时间(T3)。描述了基线人群特征,进行了亚组比较,并应用多变量回归模型来确定诊断延迟的独立预测因子,并探索筛查过程不同阶段的相互作用效应。结果:乳房x光检查和活检之间的间隔占等待时间最多(T1中位24天)。累积诊断时间(T3)中位数为32天。地域不平等是延迟的最重要决定因素:与城市患者相比,农村患者在组织病理学确诊前大约多经历了5天(p = 0.003)。社会脆弱性进一步导致T1和T3间隔延长,而生活方式、生殖和人体测量因素仅显示出轻微或不一致的关联。相互作用分析显示,与农村居住有关的延迟在年轻女性中最为明显,这一年龄组患侵略性亚型(如三阴性乳腺癌)的风险更高。结论:在我们的研究结果中,区域背景和社会脆弱性在影响总诊断时间方面超过了个体风险因素。这些结果支持仔细监测间隔特异性表现,以加强在早期乳腺癌检测的有效性经常受到挑战的弱势群体中公平获得活检。
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引用次数: 0
Endometriosis in Carriers of a Pathogenic Variant in BRCA1 or BRCA2: A Descriptive Analysis of a Large Multicentral BRCA Carrier Cohort. BRCA1或BRCA2致病变异携带者的子宫内膜异位症:一项大型多中心BRCA携带者队列的描述性分析
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-01 DOI: 10.3390/curroncol32120675
Aghaghia Mokhber, Brynne Stewart, Kathryn L Terry, Jacek Gronwald, Cezary Cybulski, Raymond H Kim, Beth Y Karlan, Louise Bordeleau, Teresa Ramón Y Cajal, Tuya Pal, Andrea Eisen, Fergus J Couch, Dana Zakalik, Nadine Tung, Robert Fruscio, William D Foulkes, Amber M Aeilts, Ping Sun, Jan Lubiński, Steven Narod, Joanne Kotsopoulos

Background: Endometriosis affects an estimated 10% of reproductive-aged women and is associated with increased ovarian cancer risk. While BRCA1/2 mutations are established risk factors for ovarian cancer, their association with endometriosis remains unclear. This study aimed to characterize the prevalence and clinical features of endometriosis within a large cohort of BRCA mutation carriers. Methods: A descriptive analysis was conducted using data from a multi-center longitudinal cohort of women with pathogenic BRCA variants. Reproductive history and related factors were collected through self-reported questionnaires and compared. Results: Among 16,950 BRCA carriers, the prevalence of endometriosis was 2.4%. Compared to BRCA carriers without endometriosis, those with endometriosis were more likely to carry a BRCA2 mutation, have post-secondary education, and experience earlier menarche. BRCA carriers with endometriosis had a lower ovarian cancer prevalence than those without (10% vs. 15%, p < 0.001). Conclusions: This is the first study of this scale to report the prevalence of endometriosis among BRCA mutation carriers, which was lower than previously reported in the general population. The association between endometriosis and ovarian cancer does not appear to be generalizable to this population. Further prospective studies are warranted to clarify this association among BRCA mutation carriers.

背景:子宫内膜异位症影响约10%的育龄妇女,并与卵巢癌风险增加有关。虽然BRCA1/2突变是卵巢癌的确定危险因素,但其与子宫内膜异位症的关系尚不清楚。本研究旨在描述BRCA突变携带者中子宫内膜异位症的患病率和临床特征。方法:对携带致病性BRCA变异的女性多中心纵向队列数据进行描述性分析。通过自述问卷收集生殖史及相关因素,并进行比较。结果:16950例BRCA携带者中,子宫内膜异位症的患病率为2.4%。与没有子宫内膜异位症的BRCA携带者相比,患有子宫内膜异位症的人更有可能携带BRCA2突变,接受过高等教育,并且初潮更早。子宫内膜异位症BRCA携带者的卵巢癌患病率低于未患子宫内膜异位症的BRCA携带者(10% vs. 15%, p < 0.001)。结论:这是第一个用该量表报告BRCA突变携带者子宫内膜异位症患病率的研究,该患病率低于之前报道的一般人群。子宫内膜异位症和卵巢癌之间的联系似乎并不适用于这一人群。需要进一步的前瞻性研究来阐明BRCA突变携带者之间的这种关联。
{"title":"Endometriosis in Carriers of a Pathogenic Variant in <i>BRCA1</i> or <i>BRCA2</i>: A Descriptive Analysis of a Large Multicentral <i>BRCA</i> Carrier Cohort.","authors":"Aghaghia Mokhber, Brynne Stewart, Kathryn L Terry, Jacek Gronwald, Cezary Cybulski, Raymond H Kim, Beth Y Karlan, Louise Bordeleau, Teresa Ramón Y Cajal, Tuya Pal, Andrea Eisen, Fergus J Couch, Dana Zakalik, Nadine Tung, Robert Fruscio, William D Foulkes, Amber M Aeilts, Ping Sun, Jan Lubiński, Steven Narod, Joanne Kotsopoulos","doi":"10.3390/curroncol32120675","DOIUrl":"10.3390/curroncol32120675","url":null,"abstract":"<p><p><b>Background:</b> Endometriosis affects an estimated 10% of reproductive-aged women and is associated with increased ovarian cancer risk. While <i>BRCA1/2</i> mutations are established risk factors for ovarian cancer, their association with endometriosis remains unclear. This study aimed to characterize the prevalence and clinical features of endometriosis within a large cohort of <i>BRCA</i> mutation carriers. <b>Methods:</b> A descriptive analysis was conducted using data from a multi-center longitudinal cohort of women with pathogenic BRCA variants. Reproductive history and related factors were collected through self-reported questionnaires and compared. <b>Results:</b> Among 16,950 <i>BRCA</i> carriers, the prevalence of endometriosis was 2.4%. Compared to <i>BRCA</i> carriers without endometriosis, those with endometriosis were more likely to carry a <i>BRCA2</i> mutation, have post-secondary education, and experience earlier menarche. <i>BRCA</i> carriers with endometriosis had a lower ovarian cancer prevalence than those without (10% vs. 15%, <i>p</i> < 0.001). <b>Conclusions:</b> This is the first study of this scale to report the prevalence of endometriosis among <i>BRCA</i> mutation carriers, which was lower than previously reported in the general population. The association between endometriosis and ovarian cancer does not appear to be generalizable to this population. Further prospective studies are warranted to clarify this association among <i>BRCA</i> mutation carriers.</p>","PeriodicalId":11012,"journal":{"name":"Current oncology","volume":"32 12","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12731921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145818366","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
Ultra- and Moderately Hypofractionated Radiotherapy for Inoperable Cholangiocarcinoma: A Single-Institution Retrospective Analysis. 超和中度低分割放疗治疗不能手术的胆管癌:单机构回顾性分析。
IF 3.4 4区 医学 Q2 ONCOLOGY Pub Date : 2025-12-01 DOI: 10.3390/curroncol32120676
Saheli Saha, Cameron Lee, Zhihui Amy Liu, Michael Yan, Laura Ann Dawson, Ali Hosni Abdalaty, Jelena Lukovic, Rebecca Wong, Aisling Barry, John Kim, Jennifer J Knox, Chaya Shwaartz, Aruz Mesci

Systemic therapy is the mainstay of treatment in inoperable cholangiocarcinoma (CCA). The aim of this study was to evaluate the overall survival (OS), progression-free survival (PFS), recurrence patterns, and the association between biliary complications and OS in patients with inoperable, localized cholangiocarcinoma treated with radiotherapy (RT) alone. Records of patients treated between 2004 and 2022 who received a minimum of 32.5 Gy BED10 were retrospectively reviewed. Survival was estimated using the Kaplan-Meier method, and prognostic factors were assessed using univariate and multivariable analyses. A total of 56 patients (median age 67.5) were included, most of whom had intrahepatic (78.6%) CCA, and most of whom received SBRT (76.8%). The median dose was 36 Gy (BED 55 Gy), and the median OS and PFS were 20 months and 10 months, respectively. One-year local control was 92.1% and the primary site of progression was intrahepatic (64.9%). On univariate analyses, pre-radiation biliary obstruction, elevated baseline CA 19-9, larger tumor size, and age were associated with worse outcomes; on multivariable analysis, only lesion size was prognostic. Biliary complications were associated with inferior OS. These findings highlight the high intrahepatic out-of-field failure rates and suggest the incorporation of biliary-event-free survival as a clinically relevant endpoint.

全身治疗是不可手术胆管癌(CCA)的主要治疗方法。本研究的目的是评估不能手术的局部胆管癌放疗患者的总生存期(OS)、无进展生存期(PFS)、复发模式以及胆道并发症与OS之间的关系。回顾性回顾了2004年至2022年间接受最低32.5 Gy BED10治疗的患者记录。使用Kaplan-Meier法估计生存率,使用单变量和多变量分析评估预后因素。共纳入56例患者(中位年龄67.5岁),其中大多数患者有肝内CCA(78.6%),大多数患者接受SBRT(76.8%)。中位剂量36 Gy (BED 55 Gy),中位OS和PFS分别为20个月和10个月。1年局部控制率为92.1%,主要进展部位为肝内(64.9%)。在单因素分析中,放疗前胆道梗阻、基线CA 19-9升高、肿瘤大小较大和年龄与较差的结果相关;在多变量分析中,只有病变大小是影响预后的因素。胆道并发症与下OS相关。这些发现强调了高肝内野外失败率,并建议将无胆道事件生存期纳入临床相关终点。
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Current oncology
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