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Pseudoangiomatous Stromal Hyperplasia of the Breast in a Female Adolescent Presenting as Bilateral Gigantomastia. 女性青少年乳房假性血管瘤间质增生表现为双侧巨乳症。
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-01 DOI: 10.4048/jbc.2023.26.e21
Soo Hyun Woo, Hyunil Kang, Woo Jung Choi, Eun Key Kim

Pseudoangiomatous stromal hyperplasia (PASH) is a rare idiopathic proliferative mesenchymal breast disease related to hormonal imbalance, and thus extremely rare in children and adolescents. In addition, PASH manifests as a bilateral gigantomastia in some cases with no established cause or treatment. Here, we report a case of a rapidly developed PASH presenting with bilateral gigantomastia in a 14-year-old premenarchial female patient. Considering the patient's age and emotions and the need for nipple-areolar complex repositioning, we performed reduction mammoplasty rather than total mastectomy despite the possibility of recurrence. Although some masses could not be completely removed, no complications, such as infection, wound dehiscence, or hematoma occurred postoperatively. The patient was stable during the 18-month follow-up period, although an evidence of recurrent and residual disease was noted upon ultrasonography.

假性血管瘤间质增生(PASH)是一种罕见的特发性增生性乳腺间质疾病,与激素失衡有关,因此在儿童和青少年中极为罕见。此外,PASH在某些病例中表现为双侧巨乳症,没有确定的病因或治疗方法。在这里,我们报告一例快速发展的PASH,表现为双侧巨乳症,发生在一名14岁的月经前女性患者。考虑到患者的年龄和情绪以及需要乳头-乳晕复合体重新定位,尽管有复发的可能性,我们还是进行了缩小乳房成形术而不是全乳切除术。部分肿物虽不能完全切除,但术后无感染、创面裂开、血肿等并发症发生。在18个月的随访期间,患者病情稳定,尽管超声检查发现了复发和残留疾病的证据。
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引用次数: 0
A Radiation Induced Low-Grade Myofibroblastic Sarcoma in the Retropectoral Area After Breast Conserving Surgery: A Case Report. 保乳手术后后腰区放射诱导的低级别肌纤维母细胞肉瘤一例。
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-01 DOI: 10.4048/jbc.2023.26.e36
Seo Young Park, Hye Jung Kim, Jeeyeon Lee, Ji Yun Jeong, Jungsup Byun, Won Hwa Kim, Byunggeon Park, Jihoon Hong

Low-grade myofibroblastic sarcoma (LGMFS) is a rare type of sarcoma, and its manifestation as a radiotherapy (RT)-induced sarcoma following RT for breast cancer is even more unusual. To date, only one case of RT-induced mammary myofibroblastic sarcoma (MFS) has been reported. Here we present the case of a 49-year-old woman with LGMFS after undergoing breast-conserving surgery for invasive ductal carcinoma (IDC), and with a history of RT 16 years prior. Due to the rarity of this disease, previous studies have focused primarily on the pathological findings of MFS. In this report however, we present the clinical and radiological features of LGMFS in the retro pectoral area as a rare type of RT-induced sarcoma.

低级别肌成纤维细胞肉瘤(LGMFS)是一种罕见的肉瘤类型,其表现为乳腺癌放疗后放疗诱导的肉瘤更为罕见。迄今为止,只有一例rt诱导的乳腺肌纤维母细胞肉瘤(MFS)被报道。本文报告一名49岁女性,因浸润性导管癌(IDC)行保乳手术后出现LGMFS,并有16年的RT病史。由于该病罕见,以往的研究主要集中在MFS的病理表现上。然而,在这篇报告中,我们提出了作为一种罕见的rt诱导肉瘤的胸后区LGMFS的临床和影像学特征。
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引用次数: 0
Waiting Time for Breast Cancer Treatment in Korea: A Nationwide Cohort Study. 韩国乳腺癌治疗的等待时间:一项全国性队列研究
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-01 DOI: 10.4048/jbc.2023.26.e26
Young-Jin Lee, Jae Ho Jeong, Jinhong Jung, Tae-Kyung Yoo, Sae Byul Lee, Jisun Kim, Beom Seok Ko, Hee Jeong Kim, Jong Won Lee, Byung Ho Son, Il Yong Chung

Purpose: This study aimed to analyze the waiting time for initial treatment after breast cancer diagnosis and determine the factors influencing treatment delay in South Korea.

Methods: This nationwide retrospective cohort study was conducted using the Health Insurance Review and Assessment data. The participants were classified according to the regions where their biopsy and treatment were performed (Seoul-Seoul, Metro-Metro, Other-Other, Metro-Seoul, Other-Seoul). Waiting time was analyzed according to regional subgroup, year of diagnosis, and type of treatment. Multivariable logistic regression models were constructed to identify the factors associated with treatment delay (after 30 days of diagnosis).

Results: A total of 133,514 participants newly diagnosed between January 2010 and December 2017 were included in the study. The median waiting time for initial treatment in the total population increased from 8 days, in 2010, to 14 days, in 2017. In the Seoul-Seoul group, the waiting time increased from 10 days, in 2010, to 16 days, in 2017. Although the median waiting time was approximately 10 days in the Metro-Metro and Other-Other groups, it was 27 and 24 days, in the Metro-Seoul and Other-Seoul group, respectively, in 2017. The proportion of delayed upfront surgery by more than 30 days was higher in the Metro-Seoul (odds ratio [OR], 8.088; 95% confidence interval [CI], 7.357-8.893; p < 0.001) and Other-Seoul (OR, 6.210; 95% CI, 5.717-6.750; p < 0.001) groups than in the Metro-Metro (OR, 1.468; 95% CI, 1.352-1.594; p < 0.001) and Other-Other (reference) groups. Previous medical history and treatment at tertiary hospital were observed as factors related to delayed surgery.

Conclusion: Waiting times for breast cancer surgery have increased across all regions of Korea, with those traveling to Seoul experiencing particularly long wait times.

目的:本研究旨在分析韩国乳腺癌确诊后初次治疗的等待时间,确定影响治疗延迟的因素。方法:这项全国性的回顾性队列研究使用健康保险回顾和评估的数据进行。参与者按照进行活检和治疗的地区进行分类(首尔-首尔、地铁-地铁、其他-其他、地铁-首尔、其他-首尔)。根据地区亚组、诊断年份和治疗类型分析等待时间。构建多变量logistic回归模型以确定与治疗延迟(诊断后30天)相关的因素。结果:在2010年1月至2017年12月期间,共有133514名新诊断的参与者被纳入该研究。在总人口中,初始治疗的中位等待时间从2010年的8天增加到2017年的14天。在首尔-首尔组,等待时间从2010年的10天增加到2017年的16天。2017年,“地铁-地铁”和“其他-其他”的平均等待时间约为10天,而“地铁-首尔”和“其他-首尔”的平均等待时间分别为27天和24天。前期手术延迟超过30天的比例在大首尔地区更高(优势比[OR], 8.088;95%置信区间[CI], 7.357-8.893;p < 0.001)和Other-Seoul (OR, 6.210;95% ci, 5.717-6.750;p < 0.001)组比Metro-Metro组(OR, 1.468;95% ci, 1.352-1.594;p < 0.001)和Other-Other(参考)组。既往病史及在三级医院的治疗均为延迟手术的相关因素。结论:韩国所有地区乳腺癌手术的等待时间都在增加,前往首尔的患者等待时间特别长。
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引用次数: 0
Comparison of Quality of Life and Cosmetic Outcome of Latissimus Dorsi Mini-Flap With Breast Conservation Surgery Without Reconstruction. 背阔肌微型皮瓣与不重建保乳手术的生存质量及美容效果比较。
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-01 DOI: 10.4048/jbc.2023.26.e33
Jang-Il Kim, Jong-Ho Cheun, Ji Gwang Jung, Yumi Kim, Changjin Lim, Yireh Han, Sookyoung Jeon, Ki Yong Hong, Han-Byoel Lee, Wonshik Han

Purpose: Latissimus dorsi mini-flap (LDMF) reconstruction after breast-conserving surgery (BCS) is a useful volume replacement technique when a large tumor is located in the upper or outer portion of the breast. However, few studies have reported the impact of LDMF on patients' quality of life (QoL) and cosmesis compared with conventional BCS.

Methods: We identified patients who underwent BCS with or without LDMF between 2010 and 2020 at a single center. At least 1 year after surgery, we prospectively administered the BREAST-Q to assess QoL and obtained the patients' breast photographs. The cosmetic outcome was assessed using four panels composed of physicians and the BCCT.core software.

Results: A total of 120 patients were enrolled, of whom 62 and 58 underwent LDMF or BCS only, respectively. The LDMF group had significantly larger tumors, shorter nipple-to-tumor distances in preoperative examinations, and larger resected breast volumes than did the BCS-only group (p < 0.001). The questionnaires revealed that QoL was poorer in the LDMF group, particularly in terms of the physical well-being score (40.9 vs. 20.1, p < 0.001). Notably, the level of patients' cosmetic satisfaction with their breasts was comparable, and the cosmetic evaluation was assessed by panels and the BCCT.core software showed no differences between the groups.

Conclusion: Our results showed that cosmetic outcomes of performing LDMF are comparable to those of BCS alone while having the advantage of resecting larger volumes of breast tissue. Therefore, for those who strongly wish to preserve the cosmesis of their breasts, LDMF can be considered a favorable surgical option after the patient is oriented toward the potential for physical dysfunction after surgery.

目的:保乳手术(BCS)后背阔肌微型皮瓣(LDMF)重建是一种有用的体积替代技术,当一个大的肿瘤位于乳房的上部或外部部分。然而,与传统BCS相比,很少有研究报道LDMF对患者生活质量(QoL)和美容的影响。方法:我们在单一中心确定2010年至2020年间接受BCS伴或不伴LDMF的患者。术后至少1年,我们前瞻性地进行breast - q评估患者的生活质量,并获得患者的乳房照片。使用由医生和BCCT组成的四个小组评估美容结果。核心软件。结果:共有120例患者入组,其中62例和58例分别接受了LDMF或BCS。LDMF组的肿瘤更大,术前检查时乳头到肿瘤的距离更短,切除的乳房体积比仅bcs组大(p < 0.001)。问卷显示,LDMF组的生活质量较差,特别是在身体健康评分方面(40.9比20.1,p < 0.001)。值得注意的是,患者对其乳房的美容满意度水平具有可比性,并且美容评估由小组和BCCT进行评估。核心软件显示各组之间没有差异。结论:我们的研究结果表明,LDMF的美容效果与单独的BCS相当,同时具有切除更大体积乳房组织的优势。因此,对于那些强烈希望保留乳房外观的患者,LDMF可以被认为是一个有利的手术选择,因为患者在手术后可能会出现身体功能障碍。
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引用次数: 0
Corrigendum: Diffusion-Weighted Magnetic Resonance Imaging for Preoperative Evaluation of Patients With Breast Cancer: Protocol of a Prospective, Multicenter, Observational Cohort Study. 更正:弥散加权磁共振成像用于乳腺癌患者的术前评估:一项前瞻性、多中心、观察性队列研究的方案。
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-01 DOI: 10.4048/jbc.2023.26.e32
Vivian Youngjean Park, Hee Jung Shin, Bong Joo Kang, Min Jung Kim, Woo Kyung Moon, Sung Eun Song, Su Min Ha

This corrects the article on p. 292 in vol. 26, PMID: 37272245.

这更正了第26卷第292页的文章,PMID: 37272245。
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引用次数: 0
Concomitant PIK3CA and TP53 Mutations in Breast Cancer: An Analysis of Clinicopathologic and Mutational Features, Neoadjuvant Therapeutic Response, and Prognosis. 乳腺癌中伴随的PIK3CA和TP53突变:临床病理和突变特征、新辅助治疗反应和预后分析
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-01 DOI: 10.4048/jbc.2023.26.e30
Xiao-Yi Lin, Lijuan Guo, Xin Lin, Yulei Wang, Guochun Zhang

Purpose: PIK3CA and TP53 are the most prevalently mutated genes in breast cancer (BC). Previous studies have indicated an association between concomitant PIK3CA/TP53 mutations and shorter disease-free survival. As its clinical utility remains largely unknown, we aimed to analyze the prognostic and predictive roles of this co-mutation.

Methods: We retrospectively analyzed patients who were diagnosed with BC at Guangdong Provincial People's Hospital (GDPH) who underwent next-generation sequencing. The correlation of concomitant PIK3CA/TP53 mutations with clinicopathological and mutational characteristics, and neoadjuvant systemic therapy (NST) responses was analyzed. The Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) dataset was used to verify associations between concurrent mutations and survival outcomes.

Results: In the GDPH cohort, concomitant PIK3CA/TP53 mutations were associated with more aggressive phenotypes, including human epidermal growth factor receptor 2 positive status, hormone receptor negative status, high Ki-67 expression, high histological grade, advanced TNM stage, and additional genetic alterations. Co-mutations also portended a worse response to NST, especially taxane-containing regimens, when compared with the TP53 mutant alone (odds ratio, 3.767; 95% confidence interval, 1.205-13.087; p = 0.028). A significant association was observed between concomitant PIK3CA/TP53 mutations and poor survival outcomes in the METABRIC cohort.

Conclusion: Concomitant PIK3CA/TP53 mutations not only suggested unfavorable features and poor prognosis in BC but also conferred less benefit to NST than TP53 mutations alone.

目的:PIK3CA和TP53是乳腺癌(BC)中最常见的突变基因。先前的研究表明,伴随的PIK3CA/TP53突变与较短的无病生存期之间存在关联。由于其临床应用仍然很大程度上未知,我们的目的是分析这种共突变的预后和预测作用。方法:我们回顾性分析广东省人民医院(GDPH)诊断为BC的患者,并进行了新一代测序。分析合并PIK3CA/TP53突变与临床病理和突变特征以及新辅助全身治疗(NST)反应的相关性。使用乳腺癌国际联盟分子分类学(METABRIC)数据集验证并发突变与生存结果之间的关联。结果:在GDPH队列中,伴随的PIK3CA/TP53突变与更具侵袭性的表型相关,包括人表皮生长因子受体2阳性状态、激素受体阴性状态、Ki-67高表达、高组织学分级、晚期TNM分期和其他遗传改变。与单独的TP53突变相比,共突变也预示着对NST的反应更差,尤其是含有紫杉烷的方案(优势比,3.767;95%置信区间为1.205-13.087;P = 0.028)。在METABRIC队列中,观察到伴随PIK3CA/TP53突变与不良生存结果之间存在显著关联。结论:伴随PIK3CA/TP53突变不仅提示BC的不利特征和不良预后,而且与单独的TP53突变相比,NST的获益更小。
{"title":"Concomitant <i>PIK3CA</i> and <i>TP53</i> Mutations in Breast Cancer: An Analysis of Clinicopathologic and Mutational Features, Neoadjuvant Therapeutic Response, and Prognosis.","authors":"Xiao-Yi Lin,&nbsp;Lijuan Guo,&nbsp;Xin Lin,&nbsp;Yulei Wang,&nbsp;Guochun Zhang","doi":"10.4048/jbc.2023.26.e30","DOIUrl":"https://doi.org/10.4048/jbc.2023.26.e30","url":null,"abstract":"<p><strong>Purpose: </strong><i>PIK3CA</i> and <i>TP53</i> are the most prevalently mutated genes in breast cancer (BC). Previous studies have indicated an association between concomitant <i>PIK3CA/TP53</i> mutations and shorter disease-free survival. As its clinical utility remains largely unknown, we aimed to analyze the prognostic and predictive roles of this co-mutation.</p><p><strong>Methods: </strong>We retrospectively analyzed patients who were diagnosed with BC at Guangdong Provincial People's Hospital (GDPH) who underwent next-generation sequencing. The correlation of concomitant <i>PIK3CA/TP53</i> mutations with clinicopathological and mutational characteristics, and neoadjuvant systemic therapy (NST) responses was analyzed. The Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) dataset was used to verify associations between concurrent mutations and survival outcomes.</p><p><strong>Results: </strong>In the GDPH cohort, concomitant <i>PIK3CA/TP53</i> mutations were associated with more aggressive phenotypes, including human epidermal growth factor receptor 2 positive status, hormone receptor negative status, high Ki-67 expression, high histological grade, advanced TNM stage, and additional genetic alterations. Co-mutations also portended a worse response to NST, especially taxane-containing regimens, when compared with the <i>TP53</i> mutant alone (odds ratio, 3.767; 95% confidence interval, 1.205-13.087; <i>p</i> = 0.028). A significant association was observed between concomitant <i>PIK3CA/TP53</i> mutations and poor survival outcomes in the METABRIC cohort.</p><p><strong>Conclusion: </strong>Concomitant <i>PIK3CA/TP53</i> mutations not only suggested unfavorable features and poor prognosis in BC but also conferred less benefit to NST than <i>TP53</i> mutations alone.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"26 4","pages":"363-377"},"PeriodicalIF":2.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3d/21/jbc-26-363.PMC10475711.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10159917","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
Investigation of Factors Affecting Adherence to Adjuvant Hormone Therapy in Early-Stage Breast Cancer Patients: A Comprehensive Systematic Review. 早期乳腺癌患者辅助激素治疗依从性影响因素的调查:一项全面的系统综述。
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-01 DOI: 10.4048/jbc.2023.26.e22
Seongwoo Yang, Seong Won Park, Soong June Bae, Sung Gwe Ahn, Joon Jeong, Kyounghoon Park

Purpose: Adherence and persistence to adjuvant hormone therapy (AHT) are seldom maintained among early-stage hormone receptor-positive breast cancer (BC) survivors, despite the significant clinical benefits of long-term AHT. As the factors influencing adherence to AHT remain unclear, this study aimed to comprehensively identify such factors and classify them into specific dimensions.

Methods: PubMed, Cochrane Library, Embase, PsycINFO, and CINAHL were searched for qualified articles. The search mainly focused on three components: early-stage (0-III) BC, oral AHT administration, and adherence to AHT, with keywords derived from MeSH and entry terms. The factors identified were then classified into six categories based on a modified WHO multidimensional model.

Results: Overall, 146 studies were included; the median sample size was 651 (range, 31-40,009), and the mean age of the population was 61.5 years (standard deviation, 8.3 years). Patient- and therapy-related factors were the most frequently investigated factors. Necessity/concern beliefs and self-efficacy among patient-related factors were consistently related to better adherence than depression. Although drug side effects and medication use cannot be modified easily, a refined prescription strategy for the initiation and switching of AHT is likely to increase adherence levels.

Conclusion: An effective psychological program that encourages positive views and beliefs about medication and management strategies for each therapy may be necessary to improve adherence to AHT. Social support and a sense of belonging can be enhanced through community participation and social media for better adherence to AHT. Patient-centered communication and appropriate recommendations by physicians may be attributable to better adherence outcomes. Findings from systematically organized factors that influence adherence to AHT may contribute to the establishment of intervention strategies to benefit patients with early-stage BC to achieve optimal health.

目的:早期激素受体阳性乳腺癌(BC)幸存者很少坚持和坚持辅助激素治疗(AHT),尽管长期AHT有显著的临床益处。由于影响AHT依从性的因素尚不清楚,本研究旨在综合识别这些因素并将其分类到特定的维度。方法:检索PubMed、Cochrane Library、Embase、PsycINFO、CINAHL等文献。搜索主要集中在三个组成部分:早期(0-III) BC、口服AHT给药和AHT依从性,关键词来源于MeSH和入门术语。然后根据改进的世卫组织多维模型将确定的因素分为六类。结果:共纳入146项研究;中位数样本量为651(范围31-40,009),人口平均年龄为61.5岁(标准差8.3岁)。患者和治疗相关因素是最常被调查的因素。患者相关因素中的必要性/关注信念和自我效能感与依从性一致高于抑郁。虽然药物副作用和药物使用不能轻易改变,但针对AHT开始和转换的精细处方策略可能会提高依从性水平。结论:一个有效的心理项目,鼓励对每种治疗的药物和管理策略的积极看法和信念,可能是提高AHT依从性的必要条件。可以通过社区参与和社交媒体加强社会支持和归属感,以更好地遵守辅助医疗。以患者为中心的沟通和医生的适当建议可能导致更好的依从性结果。系统组织的影响AHT依从性的因素的发现可能有助于建立干预策略,使早期BC患者受益,以达到最佳健康状态。
{"title":"Investigation of Factors Affecting Adherence to Adjuvant Hormone Therapy in Early-Stage Breast Cancer Patients: A Comprehensive Systematic Review.","authors":"Seongwoo Yang,&nbsp;Seong Won Park,&nbsp;Soong June Bae,&nbsp;Sung Gwe Ahn,&nbsp;Joon Jeong,&nbsp;Kyounghoon Park","doi":"10.4048/jbc.2023.26.e22","DOIUrl":"https://doi.org/10.4048/jbc.2023.26.e22","url":null,"abstract":"<p><strong>Purpose: </strong>Adherence and persistence to adjuvant hormone therapy (AHT) are seldom maintained among early-stage hormone receptor-positive breast cancer (BC) survivors, despite the significant clinical benefits of long-term AHT. As the factors influencing adherence to AHT remain unclear, this study aimed to comprehensively identify such factors and classify them into specific dimensions.</p><p><strong>Methods: </strong>PubMed, Cochrane Library, Embase, PsycINFO, and CINAHL were searched for qualified articles. The search mainly focused on three components: early-stage (0-III) BC, oral AHT administration, and adherence to AHT, with keywords derived from MeSH and entry terms. The factors identified were then classified into six categories based on a modified WHO multidimensional model.</p><p><strong>Results: </strong>Overall, 146 studies were included; the median sample size was 651 (range, 31-40,009), and the mean age of the population was 61.5 years (standard deviation, 8.3 years). Patient- and therapy-related factors were the most frequently investigated factors. Necessity/concern beliefs and self-efficacy among patient-related factors were consistently related to better adherence than depression. Although drug side effects and medication use cannot be modified easily, a refined prescription strategy for the initiation and switching of AHT is likely to increase adherence levels.</p><p><strong>Conclusion: </strong>An effective psychological program that encourages positive views and beliefs about medication and management strategies for each therapy may be necessary to improve adherence to AHT. Social support and a sense of belonging can be enhanced through community participation and social media for better adherence to AHT. Patient-centered communication and appropriate recommendations by physicians may be attributable to better adherence outcomes. Findings from systematically organized factors that influence adherence to AHT may contribute to the establishment of intervention strategies to benefit patients with early-stage BC to achieve optimal health.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"26 4","pages":"309-333"},"PeriodicalIF":2.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a0/3d/jbc-26-309.PMC10475712.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10213974","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
AURKA Gene Variants rs1047972, and rs8173 Are Associated With Breast Cancer. AURKA基因变异rs1047972和rs8173与乳腺癌相关
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-01 DOI: 10.4048/jbc.2023.26.e31
Eric Jonathan Maciel-Cruz, Luis Eduardo Figuera-Villanueva, Asbiel Felipe Garibaldi-Ríos, Belinda Claudia Gómez-Meda, Guillermo Moisés Zúñiga-González, Ana María Pérez, Paola B Castro-García, Ramiro Ramírez-Patiño, Martha Patricia Gallegos-Arreola

Purpose: Association between variants rs1047972 and rs8173 of the AURKA gene in healthy women and breast cancer (BC) in a Mexican population.

Methods: Genomic DNA samples from 409 healthy women and 572 patients with BC were analyzed for variants rs1047972 and rs8173 of the AURKA gene by polymerase chain reaction-restriction fragment length polymorphism.

Results: TT genotype (odds ratio [OR], 2.5; 95% confidence interval [CI], 1.22-5.11; p = 0.0015) and the T allele (OR, 1.16; 95% CI, 1.23-2.12; p = 0.0007) of the rs1047972 variant were associated as risk susceptibility for BC relative to the control group. Contrarily, the GG genotype (OR, 0.64; 95% CI, 0.43-0.94; p = 0.029) was associated as a protective factor of susceptibility of BC of the variant rs8173 of the AURKA gene. Differences were observed in the patients with BC who were carriers of the CT genotype of the rs1047972 variant with overweight, obesity, estrogen receptor-positive plus obesity, Ki-67 (≥ 20%) plus history familial positive of cancer; and for variant rs8173 the BC patients who were CG carriers and presented chemotherapy gastric toxicity, hormonal receptor positive plus chemotherapy gastric toxicity, and menopause status plus chemotherapy gastric toxicity (p < 0.05). Two common haplotypes were identified in the study groups: CG and TC genotypes, were associated as a protective and risk factor, respectively (p < 0.05).

Conclusion: Variants rs1047972 and rs8173 of the AURKA gene and the TC haplotype were associated as risk susceptibility factors for BC in this population.

目的:健康女性AURKA基因rs1047972和rs8173变异与墨西哥人群乳腺癌(BC)之间的关系。方法:采用聚合酶链反应-限制性片段长度多态性分析409例健康女性和572例BC患者的AURKA基因rs1047972和rs8173变异。结果:TT基因型(优势比[OR], 2.5;95%置信区间[CI], 1.22-5.11;p = 0.0015)和T等位基因(OR, 1.16;95% ci, 1.23-2.12;p = 0.0007)的rs1047972变异与对照组的BC风险易感性相关。相反,GG基因型(OR, 0.64;95% ci, 0.43-0.94;p = 0.029)是AURKA基因变异rs8173对BC易感性的保护因素。在携带rs1047972变异CT基因型的BC患者中,超重、肥胖、雌激素受体阳性加肥胖、Ki-67(≥20%)加癌症家族史阳性的患者存在差异;对于rs8173变体,CG携带者出现化疗胃毒性、激素受体阳性加化疗胃毒性、绝经期加化疗胃毒性的BC患者发生差异(p < 0.05)。在研究组中发现了两种常见的单倍型:CG和TC基因型,分别作为保护因素和危险因素相关(p < 0.05)。结论:AURKA基因rs1047972和rs8173变异和TC单倍型是该人群BC的危险易感因素。
{"title":"<i>AURKA</i> Gene Variants rs1047972, and rs8173 Are Associated With Breast Cancer.","authors":"Eric Jonathan Maciel-Cruz,&nbsp;Luis Eduardo Figuera-Villanueva,&nbsp;Asbiel Felipe Garibaldi-Ríos,&nbsp;Belinda Claudia Gómez-Meda,&nbsp;Guillermo Moisés Zúñiga-González,&nbsp;Ana María Pérez,&nbsp;Paola B Castro-García,&nbsp;Ramiro Ramírez-Patiño,&nbsp;Martha Patricia Gallegos-Arreola","doi":"10.4048/jbc.2023.26.e31","DOIUrl":"https://doi.org/10.4048/jbc.2023.26.e31","url":null,"abstract":"<p><strong>Purpose: </strong>Association between variants rs1047972 and rs8173 of the <i>AURKA</i> gene in healthy women and breast cancer (BC) in a Mexican population.</p><p><strong>Methods: </strong>Genomic DNA samples from 409 healthy women and 572 patients with BC were analyzed for variants rs1047972 and rs8173 of the <i>AURKA</i> gene by polymerase chain reaction-restriction fragment length polymorphism.</p><p><strong>Results: </strong>TT genotype (odds ratio [OR], 2.5; 95% confidence interval [CI], 1.22-5.11; <i>p</i> = 0.0015) and the T allele (OR, 1.16; 95% CI, 1.23-2.12; <i>p</i> = 0.0007) of the rs1047972 variant were associated as risk susceptibility for BC relative to the control group. Contrarily, the GG genotype (OR, 0.64; 95% CI, 0.43-0.94; <i>p</i> = 0.029) was associated as a protective factor of susceptibility of BC of the variant rs8173 of the <i>AURKA</i> gene. Differences were observed in the patients with BC who were carriers of the CT genotype of the rs1047972 variant with overweight, obesity, estrogen receptor-positive plus obesity, Ki-67 (≥ 20%) plus history familial positive of cancer; and for variant rs8173 the BC patients who were CG carriers and presented chemotherapy gastric toxicity, hormonal receptor positive plus chemotherapy gastric toxicity, and menopause status plus chemotherapy gastric toxicity (<i>p</i> < 0.05). Two common haplotypes were identified in the study groups: CG and TC genotypes, were associated as a protective and risk factor, respectively (<i>p</i> < 0.05).</p><p><strong>Conclusion: </strong>Variants rs1047972 and rs8173 of the <i>AURKA</i> gene and the TC haplotype were associated as risk susceptibility factors for BC in this population.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"26 4","pages":"378-390"},"PeriodicalIF":2.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b8/3b/jbc-26-378.PMC10475707.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10159918","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
Development and External Validation of a Machine Learning Model to Predict Pathological Complete Response After Neoadjuvant Chemotherapy in Breast Cancer. 预测乳腺癌新辅助化疗后病理完全缓解的机器学习模型的开发和外部验证。
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-01 DOI: 10.4048/jbc.2023.26.e14
Ji-Jung Jung, Eun-Kyu Kim, Eunyoung Kang, Jee Hyun Kim, Se Hyun Kim, Koung Jin Suh, Sun Mi Kim, Mijung Jang, Bo La Yun, So Yeon Park, Changjin Lim, Wonshik Han, Hee-Chul Shin

Purpose: Several predictive models have been developed to predict the pathological complete response (pCR) after neoadjuvant chemotherapy (NAC); however, few are broadly applicable owing to radiologic complexity and institution-specific clinical variables, and none have been externally validated. This study aimed to develop and externally validate a machine learning model that predicts pCR after NAC in patients with breast cancer using routinely collected clinical and demographic variables.

Methods: The electronic medical records of patients with advanced breast cancer who underwent NAC before surgical resection between January 2017 and December 2020 were reviewed. Patient data from Seoul National University Bundang Hospital were divided into training and internal validation cohorts. Five machine learning techniques, including gradient boosting machine (GBM), support vector machine, random forest, decision tree, and neural network, were used to build predictive models, and the area under the receiver operating characteristic curve (AUC) was compared to select the best model. Finally, the model was validated using an independent cohort from Seoul National University Hospital.

Results: A total of 1,003 patients were included in the study: 287, 71, and 645 in the training, internal validation, and external validation cohorts, respectively. Overall, 36.3% of the patients achieved pCR. Among the five machine learning models, the GBM showed the highest AUC for pCR prediction (AUC, 0.903; 95% confidence interval [CI], 0.833-0.972). External validation confirmed an AUC of 0.833 (95% CI, 0.800-0.865).

Conclusion: Commonly available clinical and demographic variables were used to develop a machine learning model for predicting pCR following NAC. External validation of the model demonstrated good discrimination power, indicating that routinely collected variables were sufficient to build a good prediction model.

目的:建立了几种预测模型来预测新辅助化疗(NAC)后的病理完全缓解(pCR);然而,由于放射学的复杂性和机构特定的临床变量,很少有广泛适用的,而且没有一个得到外部验证。本研究旨在开发并外部验证一种机器学习模型,该模型使用常规收集的临床和人口统计学变量预测乳腺癌患者NAC后的pCR。方法:回顾2017年1月至2020年12月行NAC手术前晚期乳腺癌患者的电子病历。来自首尔国立大学盆唐医院的患者数据被分为培训组和内部验证组。采用梯度增强机(GBM)、支持向量机、随机森林、决策树和神经网络等5种机器学习技术构建预测模型,并通过比较受者工作特征曲线下面积(AUC)选择最佳模型。最后,使用来自首尔国立大学医院的独立队列验证该模型。结果:研究共纳入1003例患者,其中培训组287例,内部验证组71例,外部验证组645例。总体而言,36.3%的患者实现了pCR。在5种机器学习模型中,GBM的pCR预测AUC最高(AUC, 0.903;95%可信区间[CI], 0.833-0.972)。外部验证证实AUC为0.833 (95% CI, 0.800-0.865)。结论:使用常用的临床和人口统计学变量来开发预测NAC后pCR的机器学习模型。模型的外部验证显示了良好的判别能力,表明常规收集的变量足以建立良好的预测模型。
{"title":"Development and External Validation of a Machine Learning Model to Predict Pathological Complete Response After Neoadjuvant Chemotherapy in Breast Cancer.","authors":"Ji-Jung Jung,&nbsp;Eun-Kyu Kim,&nbsp;Eunyoung Kang,&nbsp;Jee Hyun Kim,&nbsp;Se Hyun Kim,&nbsp;Koung Jin Suh,&nbsp;Sun Mi Kim,&nbsp;Mijung Jang,&nbsp;Bo La Yun,&nbsp;So Yeon Park,&nbsp;Changjin Lim,&nbsp;Wonshik Han,&nbsp;Hee-Chul Shin","doi":"10.4048/jbc.2023.26.e14","DOIUrl":"https://doi.org/10.4048/jbc.2023.26.e14","url":null,"abstract":"<p><strong>Purpose: </strong>Several predictive models have been developed to predict the pathological complete response (pCR) after neoadjuvant chemotherapy (NAC); however, few are broadly applicable owing to radiologic complexity and institution-specific clinical variables, and none have been externally validated. This study aimed to develop and externally validate a machine learning model that predicts pCR after NAC in patients with breast cancer using routinely collected clinical and demographic variables.</p><p><strong>Methods: </strong>The electronic medical records of patients with advanced breast cancer who underwent NAC before surgical resection between January 2017 and December 2020 were reviewed. Patient data from Seoul National University Bundang Hospital were divided into training and internal validation cohorts. Five machine learning techniques, including gradient boosting machine (GBM), support vector machine, random forest, decision tree, and neural network, were used to build predictive models, and the area under the receiver operating characteristic curve (AUC) was compared to select the best model. Finally, the model was validated using an independent cohort from Seoul National University Hospital.</p><p><strong>Results: </strong>A total of 1,003 patients were included in the study: 287, 71, and 645 in the training, internal validation, and external validation cohorts, respectively. Overall, 36.3% of the patients achieved pCR. Among the five machine learning models, the GBM showed the highest AUC for pCR prediction (AUC, 0.903; 95% confidence interval [CI], 0.833-0.972). External validation confirmed an AUC of 0.833 (95% CI, 0.800-0.865).</p><p><strong>Conclusion: </strong>Commonly available clinical and demographic variables were used to develop a machine learning model for predicting pCR following NAC. External validation of the model demonstrated good discrimination power, indicating that routinely collected variables were sufficient to build a good prediction model.</p>","PeriodicalId":15206,"journal":{"name":"Journal of Breast Cancer","volume":"26 4","pages":"353-362"},"PeriodicalIF":2.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8b/15/jbc-26-353.PMC10475713.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10511497","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
Norepinephrine/β2-Adrenergic Receptor Pathway Promotes the Cell Proliferation and Nerve Growth Factor Production in Triple-Negative Breast Cancer. 去甲肾上腺素/β2-肾上腺素能受体通路促进三阴性乳腺癌细胞增殖和神经生长因子的产生
IF 2.4 4区 医学 Q3 ONCOLOGY Pub Date : 2023-06-01 DOI: 10.4048/jbc.2023.26.e25
Meihua Jin, Yan Wang, Tingting Zhou, Wenzhe Li, Qingping Wen

Purpose: Invasive ductal carcinoma (IDC) accounts for 90% of triple-negative breast cancer (TNBC). IDC is mainly derived from the breast ductal epithelium which is innervated by the 4th to 6th thoracic sympathetic nerves. However, little is known about the contribution of the interactions between sympathetic nerves and breast cancer cells to the malignant progression of TNBC.

Methods: The expression levels of the β2-adrenergic receptor (β2-AR, encoded by ADRB2 gene), nerve growth factor (NGF), and tropomyosin receptor kinase A (TrkA) were determined using immunohistochemistry (IHC). NGF expression levels in the serum were compared by enzyme-linked immunosorbent assay (ELISA). Cell proliferation was assessed using the Cell Counting Kit-8 assay. The β2-AR, NGF, p-ERK, and p-CERB expression levels were determined using western blotting. TNBC cells and neuronal cells of the dorsal root ganglion (DRG) in 2-day-old Sprague Dawley rats were co-cultured. Using norepinephrine (NE), NGF, and β2-AR, NGF/TrkA blocker pretreatments, the axon growth of each group of DRG neuron cells was detected by immunofluorescence analysis.

Results: The sympathetic adrenergic neurotransmitter NE activated the ERK signaling pathway in TNBC cells. NE/β2-AR signaling promotes NGF secretion. NGF further facilitates the malignant progression of TNBC by increasing sympathetic neurogenesis. In the co-culture assay, the sympathetic adrenergic NE/β2-AR signal pathway also enhanced NGF secretion. NGF binds TrkA in DRG neurons and promotes axonal growth.

Conclusion: These results suggest that NE/β2-AR pathway promotes cell proliferation and NGF production in triple-negative breast cancer.

目的:浸润性导管癌(Invasive ductal carcinoma, IDC)占三阴性乳腺癌(TNBC)的90%。IDC主要来源于乳腺导管上皮,受第4 ~ 6胸交感神经支配。然而,关于交感神经和乳腺癌细胞之间的相互作用对TNBC恶性进展的贡献知之甚少。方法:采用免疫组化(IHC)法检测大鼠血清β2-肾上腺素能受体(β2-AR, ADRB2基因编码)、神经生长因子(NGF)、原肌球蛋白受体激酶A (TrkA)的表达水平。采用酶联免疫吸附试验(ELISA)比较血清中NGF的表达水平。使用细胞计数试剂盒-8测定细胞增殖。western blotting检测β2-AR、NGF、p-ERK、p-CERB的表达水平。将2日龄Sprague Dawley大鼠TNBC细胞与背根神经节(DRG)神经元细胞共培养。采用去甲肾上腺素(NE)、NGF和β2-AR、NGF/TrkA阻断剂预处理,免疫荧光法检测各组DRG神经元细胞轴突生长情况。结果:交感肾上腺素能神经递质NE激活TNBC细胞ERK信号通路。NE/β2-AR信号通路促进NGF分泌。NGF通过增加交感神经发生进一步促进TNBC的恶性进展。在共培养实验中,交感肾上腺素能NE/β2-AR信号通路也增强了NGF的分泌。NGF在DRG神经元中结合TrkA,促进轴突生长。结论:NE/β2-AR通路促进三阴性乳腺癌细胞增殖和NGF的产生。
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Journal of Breast Cancer
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