Breast Neoplasms, Male

乳腺肿瘤,男性
  • 文章类型: Journal Article
    目的:确定三级护理机构中乳腺癌患者的特征和危险因素。
    方法:回顾性研究,横断面研究是在信德省泌尿外科和移植研究所进行的,卡拉奇,并包含2017年3月至2021年12月诊断为乳腺癌的所有患者的数据。人口特征,临床表现,注意到疾病的阶段和组织病理学特征。与所有变量相关的数据并非在所有情况下都可用。数据采用SPSS23进行分析。
    结果:在690名患者中,683(99%)为女性,7(1%)为男性。演示时的平均年龄为49.3±13.5岁,而症状的平均持续时间为10.24±17.64)个月。大多数女性已婚642(93%)和多胎484(70.9%),而293(42.5%)母乳喂养孩子>1年,412例(59.7%)无避孕史.最常见的陈述阶段是第二阶段(48.6%),大多数患者患有II级395(57.2%)浸润性导管癌,在287例(41.6%)病例中注意到腔A分子亚型。
    结论:与其他人群相比,样本中乳腺癌的特征有一定的差异。重要的是整合所有数据集并制定适合巴基斯坦人口的指南。
    OBJECTIVE: To determine the characteristics and risk factors of breast cancer patients in a tertiary care setting.
    METHODS: The retrospective, cross-sectional study was conducted at the Sindh Institute of Urology and Transplantation, Karachi, and comprised data of all patients diagnosed with breast cancer from March 2017 to December 2021. Demographic characteristics, clinical presentation, stage of the disease and histopathological characteristics were noted. Data related to all the variables was not available in all cases. Data was analysed using SPSS 23.
    RESULTS: Of the 690 patients, 683(99%) were females and 7(1%) were males. The mean age at presentation was 49.3±13.5 years, while the mean duration of symptoms was 10.24±17.64) months. Most of the females were married 642(93%) and multiparous 484(70.9%), while 293(42.5%) had breastfed their children for >1 year, and 412(59.7%) had no history of contraception use. The most common stage at presentation was stage II (48.6%), and most patients had grade II 395(57.2%) invasive ductal carcinoma, with Luminal A molecular subtype noted in 287(41.6%) cases.
    CONCLUSIONS: The characteristics of breast cancer in the sample had certain distinctions compared to other populations. It is important to integrate all datasets and develop guidelines appropriate to Pakistani population.
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  • 文章类型: Journal Article
    背景:男性乳腺癌占乳腺癌诊断的少数,然而,近几十年来,它的发病率一直在上升。然而,老年男性乳腺癌患者在临床试验中的代表性不足,在治疗决策中提出挑战。这项研究旨在阐明这种人口统计学中化疗的疗效,并确定最有可能从这种干预中受益的人群。
    方法:我们使用监测进行了回顾性分析,流行病学,和最终结果(SEER)数据库,包括1900名70岁或以上的男性乳腺癌患者。其中,1652被归类为无化疗组,化疗组248人。采用多因素逻辑回归模型来研究影响老年男性乳腺癌患者化疗的决定因素。此外,多变量Cox比例风险回归模型用于识别与结局相关的因素,以总生存期(OS)为主要终点。
    结果:多因素logistic回归分析显示,肿瘤大小,淋巴结状态是接受化疗的老年男性乳腺癌患者的有力预测因子。此外,多变量分析表明,与未化疗组相比,化疗组获益(HR=0.822,95%CI:0.682~0.991,p=0.040).分层分析表明,具有N+的个体,不良/未分化等级,和II/III期疾病可以从化疗中获益。在进一步调查孕激素受体(PR)阳性患者后,研究发现,只有III期患者从化疗中获益(HR=0.571,95%CI:0.372-0.875,p=0.010).相反,在PR阴性患者中,II期(HR=0.201,95%CI:0.051-0.792,p=0.022)和III期(HR=0.242,95%CI:0.060-0.972,p=0.046)患者均可从化疗获益.
    结论:辅助化疗可能使某些老年男性乳腺癌患者受益,特别是那些淋巴结状态阳性的人,不良/未分化等级,在III期PR呈阳性,以及II/III期PR阴性表达。给定良好的物理耐受性,建议不要仓促放弃对这些老年男性乳腺癌患者的化疗。
    BACKGROUND: Male breast cancer constitutes a minority of breast cancer diagnoses, yet its incidence has been on the rise in recent decades. However, elderly male breast cancer patients have been inadequately represented in clinical trials, posing challenges in treatment decisions. This study seeks to clarify the efficacy of chemotherapy in this demographic and identify the population most likely to benefit from such intervention.
    METHODS: We conducted a retrospective analysis using the Surveillance, Epidemiology, and End Results (SEER) database, encompassing a total of 1900 male breast cancer patients aged 70 years or older. Among them, 1652 were categorized in the no-chemotherapy group, while 248 were in the chemotherapy group. A multifactorial logistic regression model was employed to investigate the determinants influencing the administration of chemotherapy in elderly male breast cancer patients. Additionally, the multivariate Cox proportional hazards regression model was applied to identify factors associated with outcomes, with overall survival (OS) as the primary endpoint.
    RESULTS: Multivariate logistic regression analysis revealed that grade, tumor size, and nodal status were robust predictors for elderly male breast cancer patients receiving chemotherapy. Furthermore, the multivariate analysis demonstrated that chemotherapy conferred benefits compared to the no-chemotherapy group (HR = 0.822, 95% CI: 0.682-0.991, p = 0.040). Stratified analyses indicated that individuals with N+, poorly/undifferentiated grade, and stage II/III disease could derive benefits from chemotherapy. Upon further investigation of progesterone receptor (PR) positive patients, it was found that only stage III patients experienced significant benefits from chemotherapy (HR = 0.571, 95% CI: 0.372-0.875, p = 0.010). Conversely, in PR negative patients, both stage II (HR = 0.201, 95% CI: 0.051-0.792, p = 0.022) and stage III patients (HR = 0.242, 95% CI: 0.060-0.972, p = 0.046) derived benefits from chemotherapy.
    CONCLUSIONS: Adjuvant chemotherapy may benefit certain elderly male breast cancer patients, specifically those with positive lymph node status, poorly/undifferentiated grade, and PR-positive in stage III, as well as PR-negative expression in stage II/III. Given favorable physical tolerance, it is advisable not to hastily dismiss chemotherapy for these elderly male breast cancer patients.
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  • 文章类型: Journal Article
    目的:男性乳腺癌(MBC)是一种罕见的乳腺癌,但是越来越常见的疾病,缺乏前瞻性研究。需要合作努力来理解和解决MBC,包括它的预后,在不同的国家。
    方法:我们回顾性回顾了临床,组织病理学,和分子遗传特征,治疗,和2007年至2017年在捷克共和国诊断的MBC的生存结果。总生存期(OS)的预后因素,无复发间隔(RFI),和乳腺癌特异性死亡率(BCSM)进行分析,并与国际数据进行间接比较.
    结果:我们分析了256例MBC患者(中位年龄66岁),包括12%的从头转移(M1)。在201名非转移性(M0)患者中,6%的人年龄<40岁,29%的人有第一阶段,55%为cN0,54%进行了基因检测。总的来说,97%的肿瘤有雌激素受体表达≥10%,61%的人有高Ki67指数,40%为高档(G3),68%为管腔B样(HER2阴性)。全身治疗包括内分泌治疗(90%)和化疗(53%)。很少(5%)患者因疾病复发或死亡以外的原因停止辅助内分泌治疗。单独使用芳香化酶抑制剂治疗的患者的RFI明显缩短(P<.001)。操作系统,RFI,BCSM与疾病分期有关,T级,N级,孕激素受体表达,grade,Ki67指数。M0和从头M1患者的中位OS达到122和42个月,分别。
    结论:由于MBC的稀有性,这项研究突出了来自实际临床实践的重要发现.尽管在这个捷克数据集中,具有不利特征的MBC患者数量高于国际研究,预后与现实证据一致.
    OBJECTIVE: Male breast cancer (MBC) is a rare, but increasingly common disease, and lacks prospective studies. Collaborative efforts are needed to understand and address MBC, including its prognosis, in different countries.
    METHODS: We retrospectively reviewed the clinical, histopathological, and molecular-genetic characteristics, treatments, and survival outcomes of MBC diagnosed between 2007 and 2017 in the Czech Republic. Prognostic factors of overall survival (OS), recurrence-free interval (RFi), and breast cancer-specific mortality (BCSM) were analyzed and indirectly compared to international data.
    RESULTS: We analyzed 256 patients with MBC (median age 66 years), including 12% with de novo metastatic (M1). Of 201 non-metastatic (M0) patients, 6% were <40 years old, 29% had stage I, 55% were cN0, and 54% underwent genetic testing. Overall, 97% of tumors had estrogen receptor expression ≥10%, 61% had high Ki67 index, 40% were high-grade (G3), and 68% were luminal B-like (HER2-negative). Systemic therapies included endocrine therapy (90%) and chemotherapy (53%). Few (5%) patients discontinued adjuvant endocrine therapy for reasons other than disease relapse or death. Patients treated with aromatase inhibitors alone had significantly shorter RFi (P < .001). OS, RFi, and BCSM were associated with disease stage, T stage, N stage, progesterone receptor expression, grade, and Ki67 index. Median OS reached 122 and 42 months in M0 and de novo M1 patients, respectively.
    CONCLUSIONS: Due to the rarity of MBC, this study highlights important findings from real clinical practice. Although the number of patients with MBC with unfavorable features was higher in this Czech dataset than in international studies, the prognosis remains consistent with real-world evidence.
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  • 文章类型: Multicenter Study
    背景:男性乳腺癌,约占所有乳腺癌病例的1%,通常导致排除男性患者作为临床试验的标准。虽然细胞周期蛋白依赖性激酶4和6(CDK4/6)抑制剂在女性转移性激素受体阳性(HR)和人表皮生长因子受体2阴性(HER2-)乳腺癌中的疗效已经确定,关于其在男性患者中的有效性的数据有限。我们旨在评估palbociclib或ribociclib在男性乳腺癌患者中的疗效和安全性。
    方法:这项研究是一个多中心,回顾性研究。我们纳入了接受palbociclib或ribociclib作为一线治疗的HR+和HER2转移性乳腺癌男性患者。我们的主要终点是无进展生存期(PFS),总反应率(ORR),和药物相关的不良反应。
    结果:共纳入来自27个机构的46名男性患者。CDK4/6抑制剂起始的中位年龄为63.64±13.69岁,中位随访时间为21.33个月(95%CI14.92-27.74)。palbociclib的ORR为84%,ribociclib为76.2%。整个队列的mPFS为28.06个月(95%CI18.70-37.42)。palbociclib和ribociclib之间的PFS没有显着差异(mPFS:24.46个月(95%CI11.51-37.42)与28.33个月(95%CI14.77-41.88),分别,p=0.211)。未报告新的不良事件。
    结论:本研究表明palbociclib和ribociclib是HR+/HER2转移性乳腺癌男性患者一线治疗的有效和安全的选择。然而,需要进一步的前瞻性研究来确定其在该人群中的疗效.
    BACKGROUND: Male breast cancer, comprising approximately 1% of all breast cancer cases, often leads to the exclusion of male patients as a criterion in clinical trials. While the efficacy of Cyclin-dependent kinases 4 and 6 (CDK 4/6) inhibitors has been established in metastatic hormone receptor-positive (HR +) and human epidermal growth factor receptor 2-negative (HER2 -) breast cancer in women, limited data exist on their effectiveness in male patients. We aimed to evaluate the efficacy and safety of palbociclib or ribociclib in male patients with breast cancer.
    METHODS: This study is a multicenter, retrospective study. We included male patients with HR + and HER2-metastatic breast cancer who received palbociclib or ribociclib as first-line treatment. Our primary endpoints were progression-free survival (PFS), overall response rates (ORR), and drug-related adverse effects.
    RESULTS: A total of 46 male patients from 27 institutions were enrolled. The median age at initiation of CDK 4/6 inhibitors was 63.64 ± 13.69 years, with a median follow-up of 21.33 (95% CI 14.92-27.74) months. The ORR were 84% for palbociclib and 76.2% for ribociclib. The mPFS for the entire cohort was 28.06 months (95% CI 18.70-37.42). No significant difference in PFS was observed between palbociclib and ribociclib (mPFS: 24.46 months (95% CI 11.51-37.42) vs 28.33 months (95% CI 14.77-41.88), respectively, p = 0.211). No new adverse events were reported.
    CONCLUSIONS: This study demonstrates that palbociclib and ribociclib are effective and safe options for first-line treatment in male patients with HR + /HER2 - metastatic breast cancer. However, further prospective studies are warranted to establish their efficacy in this population.
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  • 文章类型: Multicenter Study
    男性乳腺癌(BC)占男性肿瘤的不到1%。对男性BC特征知之甚少,管理,和生存,许多研究基于少数病例。因此,男性BC的治疗缺乏具体的指南。这项研究的目的是比较男性和女性乳腺癌(FBC)在癌症的临床和解剖病理学特征和治疗方法,并确定男性BC和FBC在存活率方面的差异。患者和方法:回顾性获得了2006年至2018年的数据。包括在Mauriziano医院或IRCCSCandiolo(TO-Italy)接受乳房手术的49名男性和680名绝经后女性原发性非转移性BC。诊断为男性BC的平均年龄为68.6岁,男性在诊断时肿瘤体积比女性小(p<0.05)。大多数男性BC患者接受他莫昔芬辅助内分泌治疗(AET)(73.5%)。由于副作用引起的AET辍学率男性为16.3%,而女性为7.6%(p=0.04)。比较FBC和男性BC,在DFS和OS方面没有发现任何差异,具有相似的10年复发率(男性BC与12%12.4%FBC)。按年龄匹配的倾向得分,节点状态,pT,并且已经进行了分子亚型,男性BC和FBC之间的OS和DFS没有差异。总之,男性BC和FBC具有相似的预后因素和生存结局.男性AET的辍学率较高,副作用是停药的主要原因。
    Male breast cancer (BC) represents less than 1% of male tumors. Little is known about male BC characteristics, management, and survival, with many studies based on a small number of cases. Consequently, the treatment of male BC lacks specific guidelines. The aims of the study are to compare male and female breast cancer (FBC) in terms of cancer clinical and anatomopathological features and treatment approach, and to identify differences between male BC and FBC in terms of survival. Patients and methods: Data from 2006 to 2018 were retrospectively acquired. Amounts of 49 males and 680 postmenopausal females with primary non-metastatic BC who underwent breast surgery at Mauriziano Hospital or IRCCS Candiolo (TO-Italy) were included. The mean age at diagnosis for male BC was 68.6 years, and males presented a smaller tumor size than women (p < 0.05) at diagnosis. Most male BC patients received adjuvant endocrine therapy (AET) with tamoxifen (73.5%). AET drop-out rate due to side effects was 16.3% for males compared to 7.6% for women (p = 0.04). Comparing FBC and male BC, no differences have been identified in terms of DFS and OS, with a similar 10-year-relapse rate (12% male BC vs. 12.4% FBC). Propensity Score Matching by age, nodal status, pT, and molecular subtype had been performed and no differences in OS and DFS were seen between male BC and FBC. In conclusion, male BC and FBC have similar prognostic factors and survival outcomes. The drop-out rate of AET was higher in males, and side effects were the main reason for drug discontinuation.
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  • 文章类型: Journal Article
    背景:在按性别调查生存率差异的回顾性研究中,有相互矛盾的结果。目的是根据预后分期系统比较男性和女性乳腺癌亚型的总体生存率(OS)和乳腺癌特异性生存率(BCSS)。
    方法:2010年至2019年期间诊断为乳腺癌的患者的总体生存率和BCSS率,按性别比较所有队列,阶段,和使用SEER数据库的分子亚型。舞台已根据AJCC的第八版进行了重新安排。
    结果:364.039名患者被纳入研究。所有乳腺癌中有7%(n=2503)是男性乳腺癌。总生存率(男性:5年OS73.9%,女性=5年OS86%)和BCSS比率(男性:5年BCSS78.9%,在所有队列中,女性=5年BCSS94.7%)的女性明显高于男性。OS(男性:5年OS66.2%,女性:5年OS88.3%),激素受体(HR)阳性/Her2阴性女性患者的BCSS(男性:5年BCSS88.4%vs女性:5年93.6%)发生率更高。I期女性的总生存率较高(男性:5年OS81.5%,女性:5年OS92.8%),第一阶段的BCSS比率更高(男性:5年BCSS94.8%,女性:5年BCSS97.5%)。男性的总死亡率风险是女性的2倍(HR=2.023),但是死于乳腺癌的风险只有1.6倍(HR=1.596)。
    结论:男性乳腺癌的乳腺癌特异性死亡率明显较高,尤其是在早期阶段,HR阳性亚型高于女性。
    BACKGROUND: In retrospective studies investigating the difference in survival by gender, there are conflicting results. It was aimed to compare overall survival (OS) and breast cancer-specific survival (BCSS) in male and female breast cancer subtypes according to the prognostic staging system.
    METHODS: Overall survival rates and BCSS rates of patients diagnosed with breast cancer between 2010 and 2019 compared by gender for all cohorts, stages, and molecular subtypes using the SEER Database. The stage has been rearranged according to the eighth edition of the AJCC.
    RESULTS: 364 039 patients were included in the study. .7% (n = 2503) of all breast cancers were male breast cancer. Overall survival (male: 5-year OS 73.9%, female = 5-year OS 86%) and BCSS rates (male: 5-year BCSS 78.9%, female = 5-year BCSS 94.7%) were significantly higher in females than in males for all cohorts. OS (male: 5-year OS 66.2% vs female: 5-year OS 88.3%), and BCSS (male: 5-year BCSS 88.4% vs female: 5-year 93.6%) rates were higher in hormone receptor (HR)-positive/Her2-negative female patients. Overall survival rate is higher in females in stage I (male: 5-year OS 81.5%, female: 5-year OS 92.8%), and BCSS rate is higher in stage I (male: 5-year BCSS 94.8%, female: 5-year BCSS 97.5%). Males have 2 times (HR = 2.023) higher overall mortality risk than females, but the risk of dying from breast cancer is only 1.6 times (HR = 1.596) higher.
    CONCLUSIONS: Breast cancer-specific mortality is significantly higher in male breast cancers, especially in the early stage, and HR-positive subtype than females.
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  • 文章类型: Journal Article
    关于从头转移性乳腺癌的当前证据是基于来自女性的数据。这项基于瑞典人群的队列研究使用瑞典国家乳腺癌质量登记册的数据,比较了性别之间从头转移性乳腺癌的发病率和预后。Joinpoint回归分析用于比较所有阶段的发病率趋势(104733名女性,648名男性)和多变量Cox回归分析,以调查新发转移性乳腺癌预后的潜在性别差异(6005名女性,41名男子)。对两性来说,癌症I期和II期的增加趋势明显,随着女性晚年的稳定趋势,而III期发病率保持稳定。女性从头转移性乳腺癌的增加趋势,在较小程度上,在男性中,被观察到。性别间的从头转移性乳腺癌总生存期没有差异(风险比=1.24;95%置信区间=0.85至1.81)。性别间新转移性乳腺癌的发病率和预后方面的可比特征暗示了相似性,支持采用共同的治疗策略。
    Current evidence on de novo metastatic breast cancer is based on data from women. This Swedish population-based cohort study compared the incidence over time and prognosis of de novo metastatic breast cancer between sexes using data from the Swedish National Quality Register for Breast Cancer. Joinpoint regression analysis was used to compare incidence trends in all stages (104 733 women, 648 men) and multivariate Cox regression analysis to investigate potential sex disparities in de novo metastatic breast cancer prognosis (6005 women, 41 men). For both sexes, increased trends were evident for cancer stages I and II, with a stabilizing trend at the later years for women, while stage III incidence remained stable. An increased trend for de novo metastatic breast cancer in women, and to a lesser extent in men, was observed. No difference in de novo metastatic breast cancer overall survival between sexes was observed (hazard ratio = 1.24; 95% confidence interval = 0.85 to 1.81). The comparable features in terms of incidence and prognosis of de novo metastatic breast cancer between sexes imply similarities, supporting the adoption of common treatment strategies.
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  • 文章类型: Multicenter Study
    前哨淋巴结活检(SLNB)目前被用作乳腺癌患者的常规治疗方法。然而,它可能不适用于男性乳腺癌(MBC)患者,因为它们的临床病理特征与女性明显不同。MBC患者缺乏SLNB应用和腋窝淋巴结清扫术(ALND)安全豁免的证据。本研究旨在评价SLNB的应用,为MBC患者的规范化治疗提供信息。回顾性审查了2001年1月至2020年11月4个机构的MBC患者记录。有220例MBC患者,中位年龄为60岁(24-88岁),平均肿瘤大小为2.3cm(0.5cm-6.5cm)。66%的患者接受了SLNB,其中39%显示出积极的结果。共有157名患者接受了ALND,虽然其中只有一半有阳性节点,造成不必要的并发症。对于处于临床早期阶段的患者,我们发现SLNB在DFS(P=.18)和OS(P=.055)方面对ALND治疗表现出非劣效性。总之,由于临床淋巴结阴性的患者比例较低,SLNB的广泛应用存在一定的障碍。然而,不可否认,SLNB可以安全有效地免除早期MBC患者的ALND,减少随后的并发症.它仍然是MBC患者腋窝分期的理想标准。
    Sentinel lymph node biopsy (SLNB) is currently used as a routine treatment for patients with breast cancer. However, it may not be applicable for patients with male breast cancer (MBC), because they have notably different clinicopathological features from those occurring in females. There is a lack of evidence of SLNB application and safe exemption from axillary lymph node dissection (ALND) in patients with MBC. This study aimed to evaluate the application of SLNB to provide information for the standardized treatment of patients with MBC. The MBC patient records from 4 institutions ranging from January 2001 to November 2020 were retrospectively reviewed. There were 220 patients with MBC with a median age of 60 (range 24-88) years and an average tumor size of 2.3 cm (range 0.5 cm-6.5 cm). Sixty-six percent of patients underwent SLNB, and 39% of them showed positive results. A total of 157 patients underwent ALND, while only half of them had positive nodes, causing unnecessary complications. For patients in the clinical early stage, we found that the SLNB showed a noninferiority to the ALND treatment in DFS (P = .18) and OS (P = .055). In conclusion, there are certain obstacles to the broad application of SLNB due to the lower proportion of patients with clinically negative lymph nodes. However, it is undeniable that SLNB can safely and effectively exempt patients with MBC at early stage with clinically negative nodes from ALND to reduce subsequent complications. It is still an ideal criterion for the axillary staging of patients with MBC.
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  • 文章类型: Journal Article
    背景:缺乏关于男性乳腺癌(BC)患者生活质量(QoL)的前瞻性数据。所有BC阶段的男性的前瞻性登记(EORTC10085),包括QoL相关研究,作为国际男性乳腺癌计划的一部分进行。
    方法:BC诊断的问卷调查包括EORTCQLQ-C30和BR23(BC特定模块),适应男人。高功能和全球健康/QoL分数表明高功能水平/高QoL;高症状集中测量分数表明高症状/问题水平。健康男性和女性BC的EORTC参考数据用于比较。
    结果:422名男性同意参加,363人可评估。年龄中位数是67岁,从诊断到调查的中位时间为1.1个月.共有114名男性(45%)患有淋巴结阳性早期疾病,和28(8%)有晚期疾病。基线平均全球健康状况评分为73分(SD:21),优于女性BC参考数据(62,SD:25)。男性BC的常见症状是疲劳(22,SD:24),失眠(21,SD:28),和疼痛(16,SD:23),女性的平均得分在33岁时显示出更多的负担症状(SD:26),30(SD:32),和29(SD:29)。男性的平均性活动评分为31(SD:26),老年患者或晚期患者的性活动较少。
    结论:男性BC患者的QoL和症状负担没有比女性患者更差(甚至可能更好)。未来对治疗对症状和QoL的影响进行分析,可能支持男性BC管理的剪裁。
    Prospective data about quality of life (QoL) in men with breast cancer (BC) are lacking. A prospective registry (EORTC10085) of men with all BC stages, including a QoL correlative study, was performed as part of the International Male Breast Cancer Program.
    Questionnaires at BC diagnosis included the EORTC QLQ-C30 and BR23 (BC specific module), adapted for men. High functioning and global health/QoL scores indicate high functioning levels/high QoL; high symptom-focused measures scores indicate high symptoms/problems levels. EORTC reference data for healthy men and women with BC were used for comparisons.
    Of 422 men consenting to participate, 363 were evaluable. Median age was 67 years, and median time between diagnosis and survey was 1.1 months. A total of 114 men (45%) had node-positive early disease, and 28 (8%) had advanced disease. Baseline mean global health status score was 73 (SD: 21), better than in female BC reference data (62, SD: 25). Common symptoms in male BC were fatigue (22, SD: 24), insomnia (21, SD: 28), and pain (16, SD: 23), for which women\'s mean scores indicated more burdensome symptoms at 33 (SD: 26), 30 (SD: 32), and 29 (SD: 29). Men\'s mean sexual activity score was 31 (SD: 26), with less sexual activity in older patients or advanced disease.
    QoL and symptom burden in male BC patients appears no worse (and possibly better) than that in female patients. Future analyses on impact of treatment on symptoms and QoL over time, may support tailoring of male BC management.
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  • 文章类型: Journal Article
    背景:BRCA1/2基因中的生殖系致病变异(PVs)与女性和男性的乳腺癌(BC)风险相关。多基因面板测试越来越多地用于BC风险评估,允许在BRCA1/2以外的基因中鉴定PVs。虽然其他癌症易感基因中可操作的PV的数据现在在女性BC中可用,男性BC(MBC)仍缺乏可靠数据。本研究旨在提供模式,MBC非BRCA1/2基因中与PVs相关的患病率和风险估计,以改善男性患者的BC预防.
    方法:我们在意大利人群中进行了一项大型病例对照研究,包括767个BRCA1/2阴性MBCs和1349个男性对照,所有使用自定义的50癌症基因组进行筛查。
    结果:与对照组相比,MBCs中BRCA1/2以外的基因中的PVs明显更频繁(4.8%vs1.8%,分别)并与MBC风险增加三倍相关(OR:3.48,95%CI:1.88-6.44;p<0.0001)。PV携带者更可能有个人(p=0.03)和家族(p=0.02)癌症病史,不限于BC。PALB2PV与MBC风险增加7倍相关(OR:7.28,95%CI:1.17-45.52;p=0.034),和ATMPVs的MBC风险增加五倍(OR:4.79,95%CI:1.12-20.56;p=0.035)。
    结论:本研究强调了PALB2和ATMPV在MBC易感性中的作用,并提供了人群水平的风险估计。这些数据可能有助于在MBC患者中实施多基因小组测试,并为患者及其家人提供针对性别的BC风险管理和决策。
    Germline pathogenic variants (PVs) in BRCA1/2 genes are associated with breast cancer (BC) risk in both women and men. Multigene panel testing is being increasingly used for BC risk assessment, allowing the identification of PVs in genes other than BRCA1/2. While data on actionable PVs in other cancer susceptibility genes are now available in female BC, reliable data are still lacking in male BC (MBC). This study aimed to provide the patterns, prevalence and risk estimates associated with PVs in non-BRCA1/2 genes for MBC in order to improve BC prevention for male patients.
    We performed a large case-control study in the Italian population, including 767 BRCA1/2-negative MBCs and 1349 male controls, all screened using a custom 50 cancer gene panel.
    PVs in genes other than BRCA1/2 were significantly more frequent in MBCs compared with controls (4.8% vs 1.8%, respectively) and associated with a threefold increased MBC risk (OR: 3.48, 95% CI: 1.88-6.44; p < 0.0001). PV carriers were more likely to have personal (p = 0.03) and family (p = 0.02) history of cancers, not limited to BC. PALB2 PVs were associated with a sevenfold increased MBC risk (OR: 7.28, 95% CI: 1.17-45.52; p = 0.034), and ATM PVs with a fivefold increased MBC risk (OR: 4.79, 95% CI: 1.12-20.56; p = 0.035).
    This study highlights the role of PALB2 and ATM PVs in MBC susceptibility and provides risk estimates at population level. These data may help in the implementation of multigene panel testing in MBC patients and inform gender-specific BC risk management and decision making for patients and their families.
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