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Secretory breast carcinoma: a multicenter clinicopathologic study of 80 cases with emphasis on prognostic analysis and chemotherapy benefit. 分泌性乳腺癌:80例多中心临床病理研究,重点分析预后和化疗效果。
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2024-12-27 DOI: 10.1007/s10549-024-07583-5
Mengyang Qi, Shuang Gao, Zhe Zhang, Ronggang Lang, Zhidong Huang, Jinhui Wang, Xiaolong Qian, Kuisheng Chen, Hong Liu

Purpose: To investigate clinicopathologic characteristics and prognosis in secretory breast carcinoma (SBC) and to determine chemotherapy benefits stratified by different subgroups.

Methods: SBCs and triple-negative invasive ductal carcinoma patients (TN-IDCs) were enrolled from three cancer centers between January 2011 and December 2020. SBCs were further divided into two subgroups: those with triple negativity (TN-SBCs) and those without (non-TN-SBCs). Clinicopathologic characteristics were thoroughly compared among the three subgroups associated with triple negativity. Kaplan-Meier estimates and Cox proportional hazard models were performed for survival analysis.

Results: A total of 80 SBCs and 310 TN-IDCs were included in the study. The TN-SBC subgroup consisted of 35 individuals (43.75%) with mild clinical behaviors and a satisfying prognosis in comparison to non-TN-SBCs and TN-IDCs. In SBCs, N stage (N1 vs. N0: HR = 11.176, 95% CI 0.843-148.132, p = 0.067; N2-3 vs. N0: HR = 30.409, 95% CI 1.378-671.169, p = 0.031), LNR (HR = 23.894, 95% CI 1.614-353.835, p = 0.021), and histological grade (HR = 28.634, 95% CI 2.745-298.703, p = 0.005) were significantly correlated with disease-free survival (DFS). Patients in high LNR group receiving chemotherapy achieved a prolonged DFS (p = 0.025), while chemotherapy did not confer a survival benefit in TN-SBCs of our interest (p = 0.12).

Conclusion: TN-SBC is a unique entity with low malignant potential. Advanced N stage, high LNR, and advanced histological grade are adverse determinants of DFS in SBC. Adjuvant chemotherapy provides superior DFS in high LNR SBCs rather than TN-SBCs, hence it is recommended for high LNR SBCs.

目的:探讨分泌性乳腺癌(SBC)的临床病理特点及预后,确定不同亚组的化疗效果。方法:2011年1月至2020年12月,从三个癌症中心招募sbc和三阴性浸润性导管癌患者(tn - idc)。sbc进一步分为两组:三阴性(tn - sbc)组和无(non- tn - sbc)组。比较三阴性亚组的临床病理特征。采用Kaplan-Meier估计和Cox比例风险模型进行生存分析。结果:共纳入80例sbc和310例tn - idc。TN-SBC亚组35例(43.75%),与非TN-SBC和TN-IDCs相比,临床行为轻微,预后满意。在SBCs中,N期(N1 vs. N0: HR = 11.176, 95% CI 0.843-148.132, p = 0.067;N2-3 vs. N0: HR = 30.409, 95% CI 1.378 ~ 671.169, p = 0.031)、LNR (HR = 23.894, 95% CI 1.614 ~ 353.835, p = 0.021)、组织学分级(HR = 28.634, 95% CI 2.745 ~ 298.703, p = 0.005)与无病生存(DFS)显著相关。接受化疗的高LNR组患者获得了延长的DFS (p = 0.025),而化疗并未给我们感兴趣的tn - sbc患者带来生存益处(p = 0.12)。结论:TN-SBC是一种独特的低恶性潜能肿瘤。晚期N期、高LNR和高组织学分级是SBC患者DFS的不利决定因素。辅助化疗对高LNR sbc的DFS优于tn - sbc,因此推荐用于高LNR sbc。
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引用次数: 0
Effects of resistance training vs high intensity interval training on body composition, muscle strength, cardiorespiratory fitness, and quality of life in survivors of breast cancer: a randomized trial. 阻力训练与高强度间歇训练对乳腺癌幸存者身体成分、肌肉力量、心肺功能和生活质量的影响:随机试验。
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2024-11-18 DOI: 10.1007/s10549-024-07559-5
Francesco Bettariga, Dennis R Taaffe, Cristina Crespo-Garcia, Timothy D Clay, Daniel A Galvão, Robert U Newton

Purpose: Breast cancer treatments often lead to unfavourable changes in body composition, physical fitness, and quality of life (QoL). We compared the effects of resistance training (RT) and high-intensity interval training (HIIT) on these outcomes in survivors of breast cancer.

Methods: Twenty-eight survivors of breast cancer, post-treatment (Stage I-III), aged 55.5 ± 8.8 years and body mass index 27.9 ± 5 kg/m2 were randomly allocated to a 12-week supervised RT (n = 14) or HIIT (n = 14) intervention, 3 days per week. Body composition (dual energy x-ray absorptiometry), upper and lower body muscle strength (1-repetition maximum), cardiorespiratory fitness (CRF) (Ekblom Bak Cycle Test), and QoL domains (EORTC QLQ-C30 and EORTC QLQ-BR45) were assessed at baseline and 12 weeks.

Results: There were no significant differences between groups at baseline. Exercise attendance ranged from 81 to 85%. Between groups, there were significant differences (p ≤ 0.001) after 12 weeks in chest press strength for RT (mean difference [MD] = 4.7 kg) and CRF for HIIT (MD = 1.9 ml/min/kg). Within groups, there were significant improvements (p < 0.05) for % lean mass and % fat mass in both RT and HIIT, as well as for upper and lower body muscle strength, CRF, and QoL domains. No major adverse events were noted.

Conclusion: Both exercise groups improved body composition, physical fitness, and QoL domains over 12 weeks of RT or HIIT, although mode-specific benefits were apparent with more substantial improvements in lean mass and muscle strength with RT and reductions in % fat mass and improved CRF with HIIT. Tailored exercise programs should address the specific health needs of each patient.

目的:乳腺癌治疗通常会导致身体成分、体能和生活质量(QoL)发生不利变化。我们比较了阻力训练(RT)和高强度间歇训练(HIIT)对乳腺癌幸存者这些结果的影响:28名乳腺癌治疗后(I-III期)幸存者,年龄(55.5 ± 8.8)岁,体重指数(27.9 ± 5 kg/m2)被随机分配到为期12周的RT(14人)或HIIT(14人)干预训练中,每周3天。在基线和 12 周时对身体成分(双能 X 射线吸收测量法)、上半身和下半身肌肉力量(1 次重复最大值)、心肺功能(CRF)(Ekblom Bak 循环测试)和 QoL 领域(EORTC QLQ-C30 和 EORTC QLQ-BR45)进行评估:结果:基线时各组间无明显差异。运动出席率从 81% 到 85% 不等。12 周后,RT 的胸外按压力量(平均差 [MD] = 4.7 千克)和 HIIT 的 CRF(平均差 = 1.9 毫升/分钟/千克)在组间存在显著差异(p ≤ 0.001)。在各组内,均有明显改善(p 结论:两组均改善了身体成分、体能和运动能力:在为期 12 周的 RT 或 HIIT 运动中,两个运动组都改善了身体成分、体能和 QoL 领域,但特定运动模式的益处也很明显,RT 对瘦体重和肌肉力量的改善更大,而 HIIT 则降低了脂肪含量并改善了 CRF。量身定制的运动计划应满足每位患者的特定健康需求。
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引用次数: 0
Efficacy of a novel interstitial lung disease monitoring program in breast cancer patients undergoing treatment with trastuzumab-deruxtecan. 一种新型间质性肺疾病监测方案在接受曲妥珠单抗-德鲁德康治疗的乳腺癌患者中的疗效
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2025-01-22 DOI: 10.1007/s10549-024-07586-2
Julie Williamson, Kristen Kelley, Mary Beth Scholand, Christine Crossno, Shelly Hummert, Patricia Jeppson, Holly Jacobson, Saundra Buys

Purpose: Interstitial lung disease (ILD) is a well described and potentially fatal complication of trastuzumab-deruxtecan (T-DXd). It is currently unknown if specific monitoring is beneficial in the early detection of ILD in these patients. We describe the efficacy and feasibility of a novel ILD monitoring protocol in breast cancer patients treated with T-DXd at our institution.

Methods: An ILD monitoring protocol developed at our institution included baseline and ongoing monitoring with pulmonary function testing (PFTs) and high-resolution chest computed tomography (HRCT) at pre-specified intervals. Patients with metastatic HER2+ or HER2-low breast cancer treated at Huntsman Cancer Institute who received ≥ 1 cycle of T-DXd between 2020 and 2023 were included (n = 68). Patient outcomes and provider adherence to the protocol were retrospectively evaluated. Providers were classified as "no adherence" if they did not elect to participate in any elements of the recommended protocol or as "some adherence" if they had at least some monitoring per protocol.

Results: 10 cases of ILD were identified with an incidence of 12% (3/25) in the no adherence group and 16% (7/43) in the some adherence group. ILD cases in the no adherence group included one grade 2 and two grade 5 cases. The some adherence group included three grade 1 and four grade 2 cases.

Conclusion: An ILD monitoring protocol consisting of baseline PFTs and ongoing monitoring with PFTs and HRCT is a feasible approach as evidenced by a majority provider adherence rate. This type of protocol may be effective in preventing severe cases of ILD and identifying grade 1 events that may permit treatment re-challenge.

目的:间质性肺疾病(ILD)是曲妥珠单抗-德鲁德康(T-DXd)治疗的一种已知的潜在致命并发症。目前尚不清楚特异性监测是否有助于这些患者早期发现ILD。我们描述了一种新的ILD监测方案在我们机构接受T-DXd治疗的乳腺癌患者中的有效性和可行性。方法:我们机构制定的ILD监测方案包括基线和持续监测,肺功能测试(PFTs)和高分辨率胸部计算机断层扫描(HRCT)在预先规定的间隔进行监测。纳入在2020年至2023年期间接受≥1个周期T-DXd治疗的亨斯迈癌症研究所(Huntsman cancer Institute)转移性HER2+或HER2低乳腺癌患者(n = 68)。回顾性评估患者预后和提供者对方案的依从性。如果提供者没有选择参与推荐方案的任何要素,则将其分类为“无依从性”;如果提供者至少对每个方案进行了一些监测,则将其分类为“一些依从性”。结果:发现10例ILD,无依从组发生率为12%(3/25),有依从组发生率为16%(7/43)。无依从组的ILD病例包括1例2级和2例5级。部分依从组包括3例1级和4例2级。结论:由基线PFTs和持续监测PFTs和HRCT组成的ILD监测方案是一种可行的方法,大多数提供者的依从率证明了这一点。这种类型的方案可能有效地预防严重的ILD病例和识别可能允许治疗再次挑战的1级事件。
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引用次数: 0
Breast hamartomas associated with epithelial atypia and malignancy: are there specific clinical, radiological or pathological features that identify at risk patients? 与上皮非典型性和恶性肿瘤相关的乳腺错构瘤:是否有特定的临床、放射学或病理特征来识别高危患者?
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2024-12-12 DOI: 10.1007/s10549-024-07577-3
Naima Tariq, Shefali Dani, Purnima Makhija, Madhuri V Warren

Purpose: Breast hamartomas are rarely associated with epithelial atypia or malignancy. Since the introduction of digital mammography in the UK from 2008, hamartoma detection has increased. The aim of this study was to identify if there are characteristic clinical, radiological or histological features that distinguish hamartomas with intralesional atypia/malignancy (complex hamartomas, CH) or ipsilateral/contralateral atypia/malignancy (non-CH) from those without atypia/malignancy at diagnosis (other benign hamartomas, BH).

Methods: We performed a retrospective single-institution review of 450 hamartomas reported between 2010 and 2023. Anonymised H&E sections and imaging of CH and non-CH were reviewed to identify distinguishing features.

Results: 13,441 benign breast lesions were biopsied/resected between 2010 and 2023 including 450 hamartomas (3.3%), 19 of which (4.2%) were associated with atypia or malignancy. 14 were analysed further (7 CH; 7 non-CH). The mean age of CH plus non-CH patients was significantly higher than patients with BH (47.5 vs. 40.6 years; p = 0.03). The mean size of CH was greater than non-CH (32.1 mm vs.17.6 mm; p = 0.06). There was a statistically significantly higher incidence of atypical/malignant lobular lesions (ALH/LCIS/ILC) in CH vs. non-CH (42.9% vs 0%; p = 0.05). MRI was performed in 2 CH and 3 non-CH; in all 5 the associated malignancy was detected. There was no significant difference between the CH and non-CH group in ultrasound/mammographic features, other hamartoma histological features or other associated benign breast changes.

Conclusions: Ultrasound/mammogram are not sufficiently sensitive to identify hamartomas with associated atypia/malignancy. Certain hamartoma features may preferentially be associated with atypia/malignancy and which merit further radiological and/or detailed histological investigation.

目的:乳腺错构瘤很少与上皮非典型性或恶性肿瘤相关。自从2008年在英国引入数字乳房x光检查以来,错构瘤的检测有所增加。本研究的目的是确定是否有特征性的临床、放射学或组织学特征来区分具有病变内异型/恶性(复杂错构瘤,CH)或同侧/对侧异型/恶性(非CH)的错构瘤与诊断时无异型/恶性(其他良性错构瘤,BH)的错构瘤。方法:我们对2010年至2023年间报告的450例错构瘤进行了回顾性的单机构回顾。匿名的H&E切片和成像的CH和非CH进行审查,以确定区分特征。结果:2010年至2023年间,共进行乳腺良性病变活检/切除13441例,其中错构瘤450例(3.3%),其中19例(4.2%)伴有非典型或恶性肿瘤。14例进一步分析(7例;7 non-CH)。CH +非CH患者的平均年龄明显高于BH患者(47.5岁vs 40.6岁;p = 0.03)。CH的平均尺寸大于non-CH (32.1 mm vs.17.6 mm;p = 0.06)。非典型/恶性小叶病变(ALH/LCIS/ILC)在CH组的发生率高于非CH组(42.9% vs 0%;p = 0.05)。2例CH和3例非CH行MRI检查;5例患者均检出相关恶性肿瘤。超声/ x线影像特征、其他错构瘤组织学特征或其他相关乳腺良性改变在CH组与非CH组之间无显著差异。结论:超声/乳房x光检查在鉴别错构瘤伴非典型/恶性肿瘤方面不够敏感。某些错构瘤的特征可能优先与非典型/恶性相关,值得进一步的放射学和/或详细的组织学调查。
{"title":"Breast hamartomas associated with epithelial atypia and malignancy: are there specific clinical, radiological or pathological features that identify at risk patients?","authors":"Naima Tariq, Shefali Dani, Purnima Makhija, Madhuri V Warren","doi":"10.1007/s10549-024-07577-3","DOIUrl":"10.1007/s10549-024-07577-3","url":null,"abstract":"<p><strong>Purpose: </strong>Breast hamartomas are rarely associated with epithelial atypia or malignancy. Since the introduction of digital mammography in the UK from 2008, hamartoma detection has increased. The aim of this study was to identify if there are characteristic clinical, radiological or histological features that distinguish hamartomas with intralesional atypia/malignancy (complex hamartomas, CH) or ipsilateral/contralateral atypia/malignancy (non-CH) from those without atypia/malignancy at diagnosis (other benign hamartomas, BH).</p><p><strong>Methods: </strong>We performed a retrospective single-institution review of 450 hamartomas reported between 2010 and 2023. Anonymised H&E sections and imaging of CH and non-CH were reviewed to identify distinguishing features.</p><p><strong>Results: </strong>13,441 benign breast lesions were biopsied/resected between 2010 and 2023 including 450 hamartomas (3.3%), 19 of which (4.2%) were associated with atypia or malignancy. 14 were analysed further (7 CH; 7 non-CH). The mean age of CH plus non-CH patients was significantly higher than patients with BH (47.5 vs. 40.6 years; p = 0.03). The mean size of CH was greater than non-CH (32.1 mm vs.17.6 mm; p = 0.06). There was a statistically significantly higher incidence of atypical/malignant lobular lesions (ALH/LCIS/ILC) in CH vs. non-CH (42.9% vs 0%; p = 0.05). MRI was performed in 2 CH and 3 non-CH; in all 5 the associated malignancy was detected. There was no significant difference between the CH and non-CH group in ultrasound/mammographic features, other hamartoma histological features or other associated benign breast changes.</p><p><strong>Conclusions: </strong>Ultrasound/mammogram are not sufficiently sensitive to identify hamartomas with associated atypia/malignancy. Certain hamartoma features may preferentially be associated with atypia/malignancy and which merit further radiological and/or detailed histological investigation.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"393-404"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Steatotic liver disease in metastatic breast cancer treated with endocrine therapy and CDK4/6 inhibitor. 内分泌疗法和CDK4/6抑制剂治疗转移性乳腺癌中的脂肪变性肝病。
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2024-12-25 DOI: 10.1007/s10549-024-07578-2
Diego Malon, Consolacion Molto, Shopnil Prasla, Danielle Cuthbert, Neha Pathak, Yael Berner-Wygoda, Massimo Di Lorio, Meredith Li, Jacqueline Savill, Abhenil Mittal, Eitan Amir, Kartik Jhaveri, Michelle B Nadler

Purpose: In early-stage breast cancer, steatotic liver disease (SLD) is associated with increased recurrence, cardiovascular events, and non-cancer death. Endocrine therapy (ET) increases the risk of SLD. The impact of cyclin-dependent kinases 4/6 inhibitors (CDK4/6i) on SLD and prognostic association in metastatic breast cancer is unknown. We characterized the presence of SLD, risk factors, and treatment outcomes of SLD in metastatic HR+/HER2- breast cancer receiving CDK4/6i.

Methods: This single institution, retrospective, cohort study included patients with metastatic HR+/HER2- breast cancer receiving first-line ET and CDK4/6i from January 2018 to June 2022. SLD was defined as a Liver Attenuation Index (LAI) > 25 HU on contrast-enhanced CT scans and/or > 10 HU on plain CT scans. Univariable binary-logistic regression was used to assess associations with SLD. Time to treatment failure (TTF) and overall survival (OS) were analyzed using Cox proportional hazards modeling.

Results: Among 87 patients with a median age of 58 years and 65.5% postmenopausal, 50 (57.5%) had SLD at anytime (24 at baseline, 26 acquired). SLD at baseline was statistically associated with post-menopausal status. It was quantitatively but not statistically associated with age > 65, diabetes, smoking, and HER2-low. SLD at anytime was statistically significantly associated with longer TTF (median 470 vs 830.5 days, HR = 0.38, p < 0.001). No significant differences in OS or grade 3/4 adverse events were observed between groups.

Conclusion: This study demonstrated a high prevalence of SLD in this population, with SLD presence correlated with longer TTF. SLD may be an indicator of better outcomes in metastatic HR+/HER2- breast cancer patients treated with CDK4/6i.

目的:在早期乳腺癌中,脂肪变性肝病(SLD)与复发率、心血管事件和非癌性死亡增加相关。内分泌治疗(ET)会增加SLD的风险。细胞周期蛋白依赖性激酶4/6抑制剂(CDK4/6i)在转移性乳腺癌中对SLD和预后的影响尚不清楚。我们描述了接受CDK4/6i治疗的转移性HR+/HER2-乳腺癌中SLD的存在、危险因素和SLD的治疗结果。方法:这项单机构、回顾性、队列研究纳入了2018年1月至2022年6月接受一线ET和CDK4/6i治疗的转移性HR+/HER2-乳腺癌患者。SLD的定义为肝脏衰减指数(LAI)在CT增强扫描中为bbbb25 HU,在CT平扫中为b>0 HU。单变量二元逻辑回归用于评估与SLD的关联。采用Cox比例风险模型分析治疗失败时间(TTF)和总生存期(OS)。结果:87例患者中位年龄为58岁,绝经后65.5%,其中50例(57.5%)在任何时候发生过SLD(基线24例,获得性26例)。基线时的SLD在统计学上与绝经后状态相关。在数量上但在统计上与65岁以下、糖尿病、吸烟和her2低相关。任何时间的SLD与较长的TTF有统计学意义上的相关性(中位数为470天vs 8305天,HR = 0.38, p)。结论:该研究表明SLD在该人群中患病率较高,SLD的存在与较长的TTF相关。SLD可能是CDK4/6i治疗的转移性HR+/HER2-乳腺癌患者预后较好的一个指标。
{"title":"Steatotic liver disease in metastatic breast cancer treated with endocrine therapy and CDK4/6 inhibitor.","authors":"Diego Malon, Consolacion Molto, Shopnil Prasla, Danielle Cuthbert, Neha Pathak, Yael Berner-Wygoda, Massimo Di Lorio, Meredith Li, Jacqueline Savill, Abhenil Mittal, Eitan Amir, Kartik Jhaveri, Michelle B Nadler","doi":"10.1007/s10549-024-07578-2","DOIUrl":"10.1007/s10549-024-07578-2","url":null,"abstract":"<p><strong>Purpose: </strong>In early-stage breast cancer, steatotic liver disease (SLD) is associated with increased recurrence, cardiovascular events, and non-cancer death. Endocrine therapy (ET) increases the risk of SLD. The impact of cyclin-dependent kinases 4/6 inhibitors (CDK4/6i) on SLD and prognostic association in metastatic breast cancer is unknown. We characterized the presence of SLD, risk factors, and treatment outcomes of SLD in metastatic HR+/HER2- breast cancer receiving CDK4/6i.</p><p><strong>Methods: </strong>This single institution, retrospective, cohort study included patients with metastatic HR+/HER2- breast cancer receiving first-line ET and CDK4/6i from January 2018 to June 2022. SLD was defined as a Liver Attenuation Index (LAI) > 25 HU on contrast-enhanced CT scans and/or > 10 HU on plain CT scans. Univariable binary-logistic regression was used to assess associations with SLD. Time to treatment failure (TTF) and overall survival (OS) were analyzed using Cox proportional hazards modeling.</p><p><strong>Results: </strong>Among 87 patients with a median age of 58 years and 65.5% postmenopausal, 50 (57.5%) had SLD at anytime (24 at baseline, 26 acquired). SLD at baseline was statistically associated with post-menopausal status. It was quantitatively but not statistically associated with age > 65, diabetes, smoking, and HER2-low. SLD at anytime was statistically significantly associated with longer TTF (median 470 vs 830.5 days, HR = 0.38, p < 0.001). No significant differences in OS or grade 3/4 adverse events were observed between groups.</p><p><strong>Conclusion: </strong>This study demonstrated a high prevalence of SLD in this population, with SLD presence correlated with longer TTF. SLD may be an indicator of better outcomes in metastatic HR+/HER2- breast cancer patients treated with CDK4/6i.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"405-416"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Application of genetic testing criteria for hereditary breast cancer in South Africa. 南非遗传性乳腺癌基因检测标准的应用。
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2025-01-07 DOI: 10.1007/s10549-024-07585-3
T S Osler, M Schoeman, W J S Pretorius, C G Mathew, J Edge, M F Urban

Purpose: Breast cancer (BC) is the commonest cancer in South African women. A proportion are associated with a pathogenic or likely pathogenic (P/LP) variant in a BC susceptibility gene. Clinical guidelines for genetic testing are used to optimise variant detection while containing costs. We assessed the detection rate in women of diverse ancestries who met the South African National Department of Health (NDOH) testing guidelines, and analysed relationships between testing criteria, participant characteristics and presence of a BRCA1/2 P/LP variant.

Methods: Records from 376 women with BC who met NDOH criteria and had genetic testing were included. Demographic, clinical and test result data were collated to describe detection rates according to criteria met, and a multivariate analysis conducted to find variables most frequently associated with a P/LP variant.

Results: P/LP variant prevalence in women meeting NDOH testing criteria was 19.9% (75/376). Women meeting ≥ 2 guideline criteria were over twice as likely to have a P/LP variant (OR 2.27, 95%CI 1.27-4.07, p = 0.006), highlighting the guidelines' capacity to stratify risk. Family history (OR 1.97; 95%CI 1.05-3.70, p = 0.03) and Black African ancestry (OR 2.58; 95%CI 1.28-5.18, p < 0.01) were independently associated with having a BRCA1/2 P/LP variant when controlling for other variables. Notably, although Black African participants were less likely to report a family history, those that did had higher odds of a P/LP variant in BRCA1/2.

Conclusion: These results demonstrate the usefulness of the NDOH guidelines in women of diverse ancestries and provide insight into the factors associated with P/LP variants in understudied African populations.

目的:乳腺癌(BC)是南非妇女中最常见的癌症。一部分与BC易感基因的致病性或可能致病性(P/LP)变异有关。基因检测的临床指南用于优化变异检测,同时控制成本。我们评估了符合南非国家卫生部(NDOH)检测指南的不同血统女性的检出率,并分析了检测标准、参与者特征和BRCA1/2 P/LP变异存在之间的关系。方法:纳入376例符合NDOH标准并进行基因检测的BC患者的记录。对人口统计学、临床和测试结果数据进行整理,以描述符合标准的检出率,并进行多变量分析,以找到与P/LP变异最常相关的变量。结果:符合NDOH检测标准的女性P/LP变异患病率为19.9%(75/376)。符合≥2个指南标准的女性发生P/LP变异的可能性是其他女性的两倍多(OR 2.27, 95%CI 1.27-4.07, P = 0.006),突出了指南对风险分层的能力。家族史(OR 1.97;95%CI 1.05-3.70, p = 0.03)和非洲黑人血统(OR 2.58;结论:这些结果证明了NDOH指南对不同血统女性的有用性,并为研究不足的非洲人群中p /LP变异的相关因素提供了见解。
{"title":"Application of genetic testing criteria for hereditary breast cancer in South Africa.","authors":"T S Osler, M Schoeman, W J S Pretorius, C G Mathew, J Edge, M F Urban","doi":"10.1007/s10549-024-07585-3","DOIUrl":"10.1007/s10549-024-07585-3","url":null,"abstract":"<p><strong>Purpose: </strong>Breast cancer (BC) is the commonest cancer in South African women. A proportion are associated with a pathogenic or likely pathogenic (P/LP) variant in a BC susceptibility gene. Clinical guidelines for genetic testing are used to optimise variant detection while containing costs. We assessed the detection rate in women of diverse ancestries who met the South African National Department of Health (NDOH) testing guidelines, and analysed relationships between testing criteria, participant characteristics and presence of a BRCA1/2 P/LP variant.</p><p><strong>Methods: </strong>Records from 376 women with BC who met NDOH criteria and had genetic testing were included. Demographic, clinical and test result data were collated to describe detection rates according to criteria met, and a multivariate analysis conducted to find variables most frequently associated with a P/LP variant.</p><p><strong>Results: </strong>P/LP variant prevalence in women meeting NDOH testing criteria was 19.9% (75/376). Women meeting ≥ 2 guideline criteria were over twice as likely to have a P/LP variant (OR 2.27, 95%CI 1.27-4.07, p = 0.006), highlighting the guidelines' capacity to stratify risk. Family history (OR 1.97; 95%CI 1.05-3.70, p = 0.03) and Black African ancestry (OR 2.58; 95%CI 1.28-5.18, p < 0.01) were independently associated with having a BRCA1/2 P/LP variant when controlling for other variables. Notably, although Black African participants were less likely to report a family history, those that did had higher odds of a P/LP variant in BRCA1/2.</p><p><strong>Conclusion: </strong>These results demonstrate the usefulness of the NDOH guidelines in women of diverse ancestries and provide insight into the factors associated with P/LP variants in understudied African populations.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"477-486"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142944641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Oncoplastic breast reconstruction with single-port laparoscopically harvested omental flap: insights from a ten-year tertiary center experience. 单孔腹腔镜下网膜瓣切除的肿瘤乳房重建:来自十年三级中心经验的见解。
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2024-12-10 DOI: 10.1007/s10549-024-07571-9
K-H Yoon, S-H Ahn, H-C Shin, H W Koh, J K-H Park, Y Myung, J H Jeong, C Y Heo, E-K Kim

Purpose: To evaluate the 10-year functional and oncological outcomes of single-port laparoscopically harvested omental flap (SLOF) for immediate breast reconstruction after breast cancer surgery. The technical feasibility and oncologic safety of breast reconstruction using a laparoscopically harvested omental flap remain controversial.

Methods: We examined 236 patients with breast cancer (including 2 patients with malignant phyllodes tumors) who underwent nipple-sparing mastectomy or breast-conserving surgery followed by immediate SLOF reconstruction between February 2015 and March 2024 at our institution. Short- and long-term outcomes were assessed. Cosmetic outcomes were evaluated using a three-panel assessment and the Seoul Breast Esthetic Scoring Tool and compared with those of a matched cohort of patients who underwent deep inferior epigastric perforator (DIEP) flap breast reconstruction.

Results: The rate of clinically significant complications of Clavien-Dindo grade IIIa or greater was 3.8% (9/236). Two patients with flap failure required flap removal and conversion to other reconstruction procedures. The cosmetic satisfaction rates were 82.5% and 76.4% in the SLOF and DIEP groups, respectively (P = 0.467). Over a median 59-month follow-up, the local, regional, and systemic recurrence rates were 3%, 2.1%, and 3%, respectively. All patients underwent annual screening for gastric cancer via esophagogastroduodenoscopy, and there were no cases of delayed flap removal due to gastrectomy.

Conclusions: Oncoplastic breast reconstruction using SLOF is safe and feasible. The natural contour and texture of the reconstructed breast and the nearly invisible scar at the abdominal single-port incision provide excellent cosmetic outcomes that are superior to those of other reconstruction methods.

目的:评价单孔腹腔镜大网膜瓣(SLOF)用于乳腺癌术后即刻乳房重建的10年功能和肿瘤预后。腹腔镜下大网膜皮瓣重建乳房的技术可行性和肿瘤安全性仍然存在争议。方法:我们对2015年2月至2024年3月在我院行保留乳头乳房切除术或保乳手术后立即进行SLOF重建的236例乳腺癌患者(包括2例恶性叶状瘤患者)进行了研究。评估了短期和长期结果。使用三组评估和首尔乳房美学评分工具对美容结果进行评估,并与接受上腹部深下穿支(DIEP)皮瓣乳房重建的匹配队列患者进行比较。结果:Clavien-Dindo IIIa级及以上临床显著并发症发生率为3.8%(9/236)。2例皮瓣失败的患者需要皮瓣切除和转换到其他重建程序。SLOF组和DIEP组美容满意率分别为82.5%和76.4% (P = 0.467)。在中位59个月的随访中,局部、区域和全身复发率分别为3%、2.1%和3%。所有患者每年通过食管胃十二指肠镜检查胃癌,无因胃切除术而延迟皮瓣切除的病例。结论:SLOF手术是安全可行的。重建乳房的自然轮廓和质地以及腹部单孔切口几乎看不见的疤痕提供了优于其他重建方法的良好美容效果。
{"title":"Oncoplastic breast reconstruction with single-port laparoscopically harvested omental flap: insights from a ten-year tertiary center experience.","authors":"K-H Yoon, S-H Ahn, H-C Shin, H W Koh, J K-H Park, Y Myung, J H Jeong, C Y Heo, E-K Kim","doi":"10.1007/s10549-024-07571-9","DOIUrl":"10.1007/s10549-024-07571-9","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the 10-year functional and oncological outcomes of single-port laparoscopically harvested omental flap (SLOF) for immediate breast reconstruction after breast cancer surgery. The technical feasibility and oncologic safety of breast reconstruction using a laparoscopically harvested omental flap remain controversial.</p><p><strong>Methods: </strong>We examined 236 patients with breast cancer (including 2 patients with malignant phyllodes tumors) who underwent nipple-sparing mastectomy or breast-conserving surgery followed by immediate SLOF reconstruction between February 2015 and March 2024 at our institution. Short- and long-term outcomes were assessed. Cosmetic outcomes were evaluated using a three-panel assessment and the Seoul Breast Esthetic Scoring Tool and compared with those of a matched cohort of patients who underwent deep inferior epigastric perforator (DIEP) flap breast reconstruction.</p><p><strong>Results: </strong>The rate of clinically significant complications of Clavien-Dindo grade IIIa or greater was 3.8% (9/236). Two patients with flap failure required flap removal and conversion to other reconstruction procedures. The cosmetic satisfaction rates were 82.5% and 76.4% in the SLOF and DIEP groups, respectively (P = 0.467). Over a median 59-month follow-up, the local, regional, and systemic recurrence rates were 3%, 2.1%, and 3%, respectively. All patients underwent annual screening for gastric cancer via esophagogastroduodenoscopy, and there were no cases of delayed flap removal due to gastrectomy.</p><p><strong>Conclusions: </strong>Oncoplastic breast reconstruction using SLOF is safe and feasible. The natural contour and texture of the reconstructed breast and the nearly invisible scar at the abdominal single-port incision provide excellent cosmetic outcomes that are superior to those of other reconstruction methods.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"355-364"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Diagnostic performance of MRI-guided vacuum-assisted breast biopsy (VABB): an essential but still underused technique. mri引导下真空辅助乳腺活检(VABB)的诊断性能:一项必要但仍未充分利用的技术。
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2024-12-18 DOI: 10.1007/s10549-024-07579-1
Laura Suman, Elisa D'Ascoli, Catherine Depretto, Alessandro Berenghi, Claudia De Berardinis, Gianmarco Della Pepa, Giovanni Irmici, Daniela Ballerini, Alice Bonanomi, Eleonora Ancona, Gianfranco Paride Scaperrotta

Background: Magnetic resonance imaging (MRI)-guided vacuum-assisted breast biopsy (VABB) is an increasingly requested procedure, but it implies training and experience both in its execution and in determining radiological-pathological concordance and is therefore performed in dedicated breast centers. The purpose of this study is to evaluate the diagnostic performance of MRI-guided vacuum-assisted biopsy and to determine the upgrade rate after surgery or follow-up.

Methods: We retrospectively evaluated all consecutive patients with suspicious MRI findings without corresponding mammographic and ultrasonographic findings who underwent MRI-guided vacuum-assisted breast biopsy (VABB) at our Institution from November 2020 to March 2023. We determined the sensitivity (SE), specificity (SP), positive predictive value (PPV), negative predictive value (NPV) and accuracy of the procedure; we also assessed upgrade rate to malignancies using surgery or at least 1-year negative follow-up as reference standard. Fisher's exact test was used to evaluate the correlation between enhancement size and type (mass/non-mass) and histological outcomes.

Results: A total of 121 patients with 122 suspicious breast lesions have been included. 29.5% (n = 36) of these lesions were classified as malignant (B5), 23% (n = 28) were lesions with uncertain malignant potential (B3 lesions), and 47.5% (n =58) were benign (B2). Among B5 lesions, 47.22% (n =17) were ductal carcinomas in situ (DCIS) and 52.77% (n = 19) were invasive carcinomas. Among patients with already diagnosed breast cancer (n = 36), MRI-guided VABB identified additional foci of disease in 36.1% (n = 13) of the cases, specifically 10 foci on the same breast and 3 in the contralateral breast. Accuracy of MRI-guided VABB was 96.7%, SE was 90%, SP was 100%, PPV was 100%, and NPV was 95.3%. 4 benign lesions (B2 and B3) were upgraded to B5 lesions after surgery or follow-up; the upgrade rate to malignancies was 3.28%. Fisher's exact test showed a significant association between enhancement size and histological outcomes (OR = 2.38, p = 0.046), while enhancement type was not significantly correlated (OR = 0.88, p = 0.841). No major complications have been reported.

Conclusions: MRI-guided VABB has proven to be a mini-invasive, safe, and accurate procedure for the diagnostic work-up of suspected breast lesions, which can help in the management of patients aiding in the correct surgical decisional process.

背景:磁共振成像(MRI)引导的真空辅助乳腺活检(VABB)是一种越来越被要求的手术,但它需要在其执行和确定放射病理一致性方面的培训和经验,因此在专门的乳腺中心进行。本研究的目的是评估mri引导下的真空辅助活检的诊断性能,并确定手术后或随访后的升级率。方法:我们回顾性评估了2020年11月至2023年3月在我院接受MRI引导下真空辅助乳腺活检(VABB)的所有连续患者,这些患者有可疑的MRI表现,但没有相应的乳房x线和超声检查结果。测定该方法的敏感性(SE)、特异性(SP)、阳性预测值(PPV)、阴性预测值(NPV)和准确性;我们还以手术或至少1年阴性随访作为参考标准评估恶性肿瘤的升级率。使用Fisher精确检验来评估增强大小与类型(肿块/非肿块)和组织学结果之间的相关性。结果:共纳入121例可疑乳腺病变122例。其中29.5% (n = 36)为恶性(B5), 23% (n = 28)为恶性不确定的病变(B3), 47.5% (n =58)为良性(B2)。B5病变中,导管原位癌(DCIS)占47.22% (n =17),浸润性癌占52.77% (n = 19)。在已经诊断为乳腺癌的患者(n = 36)中,mri引导下的VABB在36.1% (n = 13)的病例中发现了额外的疾病灶,其中10个灶在同侧乳房,3个灶在对侧乳房。mri引导下VABB的准确率为96.7%,SE为90%,SP为100%,PPV为100%,NPV为95.3%。4例良性病变(B2、B3)术后或随访后升级为B5病变;恶性升级率为3.28%。Fisher精确检验显示增强大小与组织学结果有显著相关性(OR = 2.38, p = 0.046),而增强类型与组织学结果无显著相关性(OR = 0.88, p = 0.841)。没有重大并发症的报道。结论:mri引导下的VABB已被证明是一种微创、安全、准确的方法,可用于可疑乳腺病变的诊断检查,有助于患者的管理,有助于正确的手术决策过程。
{"title":"Diagnostic performance of MRI-guided vacuum-assisted breast biopsy (VABB): an essential but still underused technique.","authors":"Laura Suman, Elisa D'Ascoli, Catherine Depretto, Alessandro Berenghi, Claudia De Berardinis, Gianmarco Della Pepa, Giovanni Irmici, Daniela Ballerini, Alice Bonanomi, Eleonora Ancona, Gianfranco Paride Scaperrotta","doi":"10.1007/s10549-024-07579-1","DOIUrl":"10.1007/s10549-024-07579-1","url":null,"abstract":"<p><strong>Background: </strong>Magnetic resonance imaging (MRI)-guided vacuum-assisted breast biopsy (VABB) is an increasingly requested procedure, but it implies training and experience both in its execution and in determining radiological-pathological concordance and is therefore performed in dedicated breast centers. The purpose of this study is to evaluate the diagnostic performance of MRI-guided vacuum-assisted biopsy and to determine the upgrade rate after surgery or follow-up.</p><p><strong>Methods: </strong>We retrospectively evaluated all consecutive patients with suspicious MRI findings without corresponding mammographic and ultrasonographic findings who underwent MRI-guided vacuum-assisted breast biopsy (VABB) at our Institution from November 2020 to March 2023. We determined the sensitivity (SE), specificity (SP), positive predictive value (PPV), negative predictive value (NPV) and accuracy of the procedure; we also assessed upgrade rate to malignancies using surgery or at least 1-year negative follow-up as reference standard. Fisher's exact test was used to evaluate the correlation between enhancement size and type (mass/non-mass) and histological outcomes.</p><p><strong>Results: </strong>A total of 121 patients with 122 suspicious breast lesions have been included. 29.5% (n = 36) of these lesions were classified as malignant (B5), 23% (n = 28) were lesions with uncertain malignant potential (B3 lesions), and 47.5% (n =58) were benign (B2). Among B5 lesions, 47.22% (n =17) were ductal carcinomas in situ (DCIS) and 52.77% (n = 19) were invasive carcinomas. Among patients with already diagnosed breast cancer (n = 36), MRI-guided VABB identified additional foci of disease in 36.1% (n = 13) of the cases, specifically 10 foci on the same breast and 3 in the contralateral breast. Accuracy of MRI-guided VABB was 96.7%, SE was 90%, SP was 100%, PPV was 100%, and NPV was 95.3%. 4 benign lesions (B2 and B3) were upgraded to B5 lesions after surgery or follow-up; the upgrade rate to malignancies was 3.28%. Fisher's exact test showed a significant association between enhancement size and histological outcomes (OR = 2.38, p = 0.046), while enhancement type was not significantly correlated (OR = 0.88, p = 0.841). No major complications have been reported.</p><p><strong>Conclusions: </strong>MRI-guided VABB has proven to be a mini-invasive, safe, and accurate procedure for the diagnostic work-up of suspected breast lesions, which can help in the management of patients aiding in the correct surgical decisional process.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"417-423"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142845988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Long-term benefits of exercise interventions during chemotherapy in breast cancer: insights from the optitrain trial calling for longitudinal studies.
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2025-02-17 DOI: 10.1007/s10549-025-07638-1
Rupak Desai, Akhil Jain
{"title":"Long-term benefits of exercise interventions during chemotherapy in breast cancer: insights from the optitrain trial calling for longitudinal studies.","authors":"Rupak Desai, Akhil Jain","doi":"10.1007/s10549-025-07638-1","DOIUrl":"10.1007/s10549-025-07638-1","url":null,"abstract":"","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"249-250"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Inference of genetic ancestry from a multi-gene cancer panel in Colombian women with cancer. 哥伦比亚女性癌症患者多基因癌症小组的遗传血统推断。
IF 3 3区 医学 Q2 ONCOLOGY Pub Date : 2025-04-01 Epub Date: 2024-12-07 DOI: 10.1007/s10549-024-07557-7
Yina T Zambrano-O, Alejandro Mejía-Garcia, P Daniela Morales, Hsuan Megan Tsao, Laura Rey-Vargas, Wendy Montero-Ovalle, Carlos A Huertas-Caro, M C Sanabria-Salas, Julián Riaño-Moreno, Juliana L Rodriguez, Carlos A Orozco, Liliana Lopez-Kleine, I King Jordan, Silvia J Serrano-G

Introduction: Cancer health disparities among racial and ethnic populations significantly burden health systems due to unequal access to early detection, treatment, and healthcare resources. These disparities lead to worse outcomes and increased costs from delayed diagnoses, advanced treatments, and prolonged care. Genetic differences can also influence cancer susceptibility and treatment response, thus analyzing genetic ancestry is essential for uncovering genetic factors that may contribute to these disparities. Utilizing data from clinical multigene cancer panels to infer genetic ancestry offers a valuable approach to understand population structure and the impact of individual ancestries in development of complex diseases.

Aim: To evaluate the accuracy of global ancestry inference using genetic markers from the TruSight™ Hereditary Cancer Panel, which was used to investigate hereditary cancer syndromes in a cohort of 116 female cancer patients at the Colombian National Cancer Institute. Additionally, to compare these results with genetic ancestry estimations from traditional genome-wide markers.

Results: Our results demonstrate a strong correlation between global genetic ancestry inferred with markers captured from TruSightTM panel (4785 markers) and Whole Genome Sequencing (WGS, 8 million markers in admixed populations. The correlation values were 0.96 (p < 0.0001) for the Native American and European ancestry components, and 0.99 (p < 0.0001) for the African ancestry fraction. Genetic ancestry mean proportions in the Colombian cohort were 45.7%, 46.2%, and 8.11% for the European, the Native American, and the African components, respectively.

Conclusion: This study demonstrates the accuracy of ancestry inference from clinical panel data offering a promising approach for understanding cancer health disparities in admixed populations.

种族和民族人群之间的癌症健康差异,由于获得早期发现、治疗和卫生保健资源的不平等,给卫生系统带来了重大负担。这些差异导致了更糟糕的结果,并增加了延迟诊断、先进治疗和长期护理的成本。遗传差异也会影响癌症易感性和治疗反应,因此分析遗传祖先对于揭示可能导致这些差异的遗传因素至关重要。利用临床多基因癌症小组的数据来推断遗传祖先,为了解群体结构和个体祖先在复杂疾病发展中的影响提供了一种有价值的方法。目的:利用TruSight™遗传性癌症小组的遗传标记评估全球祖先推断的准确性,该小组用于调查哥伦比亚国家癌症研究所116名女性癌症患者的遗传性癌症综合征。此外,将这些结果与传统全基因组标记的遗传祖先估计进行比较。结果:我们的研究结果表明,从TruSightTM面板(4785个标记)和全基因组测序(WGS)(800万个标记)中推断的全球遗传祖先之间存在很强的相关性。结论:本研究证明了从临床小组数据推断祖先的准确性,为了解混合人群中癌症健康差异提供了一种有希望的方法。
{"title":"Inference of genetic ancestry from a multi-gene cancer panel in Colombian women with cancer.","authors":"Yina T Zambrano-O, Alejandro Mejía-Garcia, P Daniela Morales, Hsuan Megan Tsao, Laura Rey-Vargas, Wendy Montero-Ovalle, Carlos A Huertas-Caro, M C Sanabria-Salas, Julián Riaño-Moreno, Juliana L Rodriguez, Carlos A Orozco, Liliana Lopez-Kleine, I King Jordan, Silvia J Serrano-G","doi":"10.1007/s10549-024-07557-7","DOIUrl":"10.1007/s10549-024-07557-7","url":null,"abstract":"<p><strong>Introduction: </strong>Cancer health disparities among racial and ethnic populations significantly burden health systems due to unequal access to early detection, treatment, and healthcare resources. These disparities lead to worse outcomes and increased costs from delayed diagnoses, advanced treatments, and prolonged care. Genetic differences can also influence cancer susceptibility and treatment response, thus analyzing genetic ancestry is essential for uncovering genetic factors that may contribute to these disparities. Utilizing data from clinical multigene cancer panels to infer genetic ancestry offers a valuable approach to understand population structure and the impact of individual ancestries in development of complex diseases.</p><p><strong>Aim: </strong>To evaluate the accuracy of global ancestry inference using genetic markers from the TruSight™ Hereditary Cancer Panel, which was used to investigate hereditary cancer syndromes in a cohort of 116 female cancer patients at the Colombian National Cancer Institute. Additionally, to compare these results with genetic ancestry estimations from traditional genome-wide markers.</p><p><strong>Results: </strong>Our results demonstrate a strong correlation between global genetic ancestry inferred with markers captured from TruSight<sup>TM</sup> panel (4785 markers) and Whole Genome Sequencing (WGS, 8 million markers in admixed populations. The correlation values were 0.96 (p < 0.0001) for the Native American and European ancestry components, and 0.99 (p < 0.0001) for the African ancestry fraction. Genetic ancestry mean proportions in the Colombian cohort were 45.7%, 46.2%, and 8.11% for the European, the Native American, and the African components, respectively.</p><p><strong>Conclusion: </strong>This study demonstrates the accuracy of ancestry inference from clinical panel data offering a promising approach for understanding cancer health disparities in admixed populations.</p>","PeriodicalId":9133,"journal":{"name":"Breast Cancer Research and Treatment","volume":" ","pages":"251-259"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
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Breast Cancer Research and Treatment
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