Reasons for risk-reducing mastectomy versus MRI-screening in a cohort of women at high hereditary risk of breast cancer

Objective

To determine the reasons that motivate women in a cohort of women under intensive surveillance for breast cancer to undergo risk-reducing mastectomy (RRM).

Patients and methods

Women with a BRCA1 or BRCA2 mutation who were enrolled in an MRI-based breast screening study were eligible to participate in this survey. A self-administered questionnaire was given to women who did, and who did not terminate annual MRI-based surveillance in order to undergo RRM. The questionnaire included information on family history, risk perception and satisfaction with screening. In addition, women were asked to provide the principal reason for their choice of having preventive surgery or not, and were asked about their satisfaction with this choice.

Results

246 women without breast cancer participated in the study. Of these, 39 women (16%) elected to have RRM at some point after initiating screening. Although women who had a mother or sister with breast cancer were more likely to opt for RRM than were women with no affected first-degree relative (21% versus 10%) this did not reach statistical significance. Women who perceived their breast cancer risk to be greater than 50% were more likely to opt for RRM than were women who estimated their risk to be less than 50% (19% versus 6%). Fear of cancer was the most common reason cited for choosing to have RRM (38% of respondents) followed by having had a previous cancer, (25%), then concern over their children (16%).

Conclusion

Among women with a BRCA mutation who are enrolled in an MRI-based screening program, a high perception of personal breast cancer risk and a history of breast cancer in a first-degree relative are predictors of the decision to have RRM.     

Practical aspects of genetic counseling in breast cancer: Lights and shadows

In unselected populations, less than 10% of breast cancers are associated with germline mutations in predisposing genes. Breast cancer type 1 and 2 (BRCA1 and BRCA2) susceptibility genes are the most common involved genes and confer a 10–30 times higher risk of developing the disease compared to the general population. A personal or family history suggestive of inherited breast cancer syndrome may be further evaluated to assess the risk of genetic predisposition and the presence of a genetic mutation. Breast cancer genetic counseling should include a careful risk assessment with associated psychosocial evaluation and support, possible molecular testing, personalized discussion of results. Knowledge of BRCA status can influence individualized cancer risk-reduction strategies. i.e. active surveillance, prophylactic surgery and/or pharmacoprevention.     

Role of Breast Surgery in BRCA Mutation Carriers

BRCA mutation carriers have a life-long breast cancer risk between 55 and 85% and a high risk of developing breast cancer at a very young age, depending on the type of mutation. The risk of developing contralateral breast cancer after a first breast cancer is elevated up to 65%, especially in case of BRCA1 mutation and young age at the first breast cancer. Since bilateral prophylactic mastectomy is associated with a risk reduction of 90–95% of developing primary or contralateral breast cancer, this option is a key point within the counseling process for patient information and shared decision-making of mutation carriers. Although the local control after breast-conserving therapy in mutation carriers seems to be comparable to that of sporadic breast cancer patients, individual patient information and counseling should include all alternative procedures of oncologically adequate mastectomy techniques and immediate reconstruction. Excellent cosmetic results, high levels of life quality, and good patient acceptance can be achieved with the recent developments in reconstructive surgery of the breast.     

基层医院成人急性肠梗阻急诊手术时机的决策

[摘要]目的探讨成人急性肠梗阻急诊手术时机的决策。方法我院普外科2006年9月～2012年12月共收治急性肠梗阻病人158例,其中105例（66．5％）行急诊手术,对其临床效果进行回顾性总结。结果本组105例病人均经急诊剖腹探查术,手术距发病时间平均28h,术后发生肠瘘3例,2例保守治疗痊愈,1例死亡。结论及时的早期诊断及准确的手术决策是改善本病预后,降低并发症及病死率的关键。     

Current National Health Insurance Coverage Policies for Breast and Ovarian Cancer Prophylactic Surgery

Background: The efficacy of prophylactic mastectomy and oophorectomy in reducing breast and ovarian carcinoma has recently been reported in high-risk women. Because cost has become central to medical decision-making, this study was designed to evaluate currently existing coverage policies for these procedures.Methods: A confidential detailed cross-sectional nationwide survey of 481 edical directors from the American Association of Health Plans, Medicare, and Medicaid was conducted.Results: Of the 150 respondents, 65% (n 5 97) had 100,000 or more enrolled members and 35% (n 5 53) had fewer than 100,000 enrolled members. Only 44% of private plans have specific policies for coverage of prophylactic mastectomy for a strong family history of breast cancer and 38% of plans for a BRCA mutation. Only 20% of total responding plans had a policy for coverage of prophylactic oophorectomy under any clinical circumstance. Governmental carriers were significantly less likely to have any policy for prophylactic surgery (range, 2%–12%) compared with nongovernmental plans (range, 24%–44%; P,.001). No significant regional differences for coverage policies were identified (P.05).Conclusions: Significant variations currently exist for health insurance coverage of prophylactic mastectomy and oophorectomy. As genetic testing becomes widespread, more uniform policies should be established to enable appropriate high-risk candidates equal access and coverage for these procedures.     

Terminal Duct Lobular Units are Scarce in the Nipple: Implications for Prophylactic Nipple-Sparing Mastectomy

Background The use of nipple-sparing mastectomy (NSM) for both breast cancer treatment and risk reduction is increasing. There is no randomized data comparing nipple-sparing mastectomy with standard mastectomy techniques. There is evidence to suggest that ductal and lobular breast cancer arises in the terminal duct/lobular unit (TDLU). This study was undertaken to determine whether TDLUs exist in the nipple and if so, to what extent. Methods At the time of mastectomy the nipple papilla was excised and submitted for separate pathological examination. The presence or absence of TDLUs was noted. Results Thirty-two nipples were studied in 22 patients. There were no TDLUs in 29 specimens. Three of 32 nipple specimens were found to contain TDLUs. The three nipples contain one, two, and three TDLUs respectively. All TDLUs were found at the base of the nipple, with none located near the tip. Conclusions The infrequent occurrence of TDLUs in the nipple papilla supports the use of NSM for risk reduction surgery, including for those women with BRCA1/2 mutations.     

保留乳头乳晕的乳房全切术后带蒂大网膜联合假体乳房一期重建23例

目的探讨保留乳头乳晕的乳房全切术后带蒂大网膜联合假体一期乳房重建的可行性和效果。 方法选择湖南省肿瘤医院乳腺二科2013年8月至2015年9月收治的0、Ⅰ、Ⅱ期乳腺癌患者23例,所有患者按肿瘤切除原则先行保留乳头乳晕的乳房全切术,取上腹部小切口游离带蒂大网膜联合凝胶假体植入胸大小肌之间行乳房一期重建。 结果23例大网膜组织瓣全部成活,随访3~25个月,无一例假体移位、破裂,重建乳房外观自然、柔软、形态良好,其中2例导管内癌患者因术后预留乳头乳晕部位皮肤较薄出现了乳头缺血,颜色变黑,随访3个月,未见坏死。随访期间未见一例复发。 结论保留乳头乳晕的改良根治术后带蒂大网膜联合假体一期乳房重建是一种安全可行且美容效果良好的手术方法。     

Surgical decision making

Decision making is an integral part of surgical practice and is a skill that is as important as the ability to operate. Sound decision making is the result of acquiring ‘surgical wisdom’, which is achieved through learning, experience and reflection. This paper reviews the processes of surgical decision making with respect to choosing the correct procedure and deciding when to operate, and how operative decisions are made, together with the factors that influence our surgical decisions.     

BRCA1和BRCA2在胶东半岛地区女性散发性乳腺癌中的表达研究

Objective To study the expression and clinical significance of BRCA1 and BRCA2 in sporadic breast cancer in women of Jiaodong peninsula. Methods Immunohistochemistry and tissue array were used to detect the expression of BRCA1 and BRCA2 in 100 cases of sporadic breast cancer and 30 cases of benign breast tumor in women of Jiaodong peninsula. Results ① The expression rate of BRCA1 and BRCA2 was 49% (49/100) and 50% (50/100) in breast cancer, 80% (24/30) and 83.33% (25/30) in benign breast lesions respectively. The expression rate of BRCA1 and BRCA2 in breast cancer was lower than that in benign breast lesions (P<0.05). ② The expression of BRCA1 and BRCA2 was uncorrelated with factors such as tumor size, lymphatic metastases, age and menopause or not(P>0.05). ③ There was no dependency between the expression of BRCA1 and BRCA2 (P> 0. 05). Conclusions The expression rate of BRCA1 and BRCA2 in breast carcinoma in women of Jiaodong peninsula was lower than that in benign breast lesions, suggesting that the expression of BRCA1 and BRCA2 was related to the occurrence of sporadic breast carcinoma in women of Jiaodong peninsula. However, the role of BRCA1 and BRCA2 in the genesis and development of the breast carcinoma is independent.     

Shared decision making in the management of midshaft clavicular fractures: Nonoperative treatment or plate fixation

IntroductionMost patients with a displaced midshaft clavicular fracture can be treated either operatively or nonoperatively, with similar long-term outcomes. The treatment choice depends on individual preferences, and is therefore suited for a shared decision making (SDM) approach. However, little is known about SDM in fracture treatment. The purpose of this study was to evaluate the current daily practice of shared decisional behaviour in clavicular fracture treatment, in order to assess the need for improvement and set a baseline level for future research.Patients and methodsAll consecutive adult patients treated in two hospitals for a displaced, midshaft clavicular fracture in 2015 filled out a questionnaire shortly after the decision making moment, that consisted of questions concerning their knowledge and preferences regarding the treatment options; the SDM-Q-9-NL to measure the perceived degree of SDM, and the Control Preferences Scale to measure patients’ preferred and actual roles in decision making.ResultsFifty patients were included. Eighteen percent of the patients were unaware of the treatment options before the consultation, 48% had no preference for either treatment option. The mean score for perceived degree of SDM was 74 out of 100 (SD 23, range 12.5–100). In 68% of patients, the preferred role matched the actual role in making the decision. Sixteen patients (32%) would have preferred either a less (n = 8) or a more (n = 8) active role.ConclusionThe patient-reported level of SDM in treatment decisions for clavicular fractures was high, but not all patients had the role in this process that they preferred. To improve patients’ involvement in the treatment decision making process for clavicular fractures, it is important to create general awareness about SDM, and increase knowledge of orthopaedic trauma surgeons about SDM behaviour.     

BRCA1/2基因突变对乳腺癌保乳术后局部复发的影响及相关预后模型的构建

背景与目的 保乳手术现已成为乳腺癌的标准手术方式之一,保乳手术能够保留患者的乳房外形,极大地改善患者术后的心理状态和生活质量。BRCA1/2基因是与乳腺癌密切相关的易感基因,BRCA1/2基因突变对保乳术后乳腺癌患者局部复发的影响目前尚有争议。因此,本研究分析BRCA1/2基因突变与乳腺癌保乳术后局部复发的关系,并构建相关预测模型,预测保乳术后乳腺癌患者的无局部复发生存（LRFS）率,为乳腺癌患者保乳手术适应证的选择提供可靠的依据。方法 回顾性分析2014年6月—2016年6月于中国人民解放军空军军医大学第一附属医院进行保乳手术的189例乳腺癌患者临床资料,并比较不同临床病理特征下患者BRCA1/2基因突变的差异,通过单因素及多因素Cox等比例回归模型分析BRCA1/2基因突变及其它临床病理因素对乳腺癌患者保乳术后局部复发的影响,并构建列线图来预测患者的LRFS率。通过一致性指数（C-index）、受试者工作特征（ROC）曲线及曲线下面积（AUC）对模型进行内部验证,通过校准曲线评估模型的准确性,并通过临床决策曲线分析（DCA）评价模型的临床获益和应用价值。结果 BRCA1/2基因突变组和未突变组的年龄和分子分型进行差异有统计学意义（均P<0.05）。单因素Cox等比例回归模型分析结果显示,BRCA1/2突变、肿瘤分级、肿瘤大小、N分期及分子分型是保乳术后乳腺癌患者LRFS率的影响因素（均P<0.1）。多因素Cox等比例回归模型分析结果显示,BRCA1/2基因突变、肿瘤大小、N分期及分子分型是保乳术后乳腺癌患者局部复发的独立影响因素（P<0.05）。将这些因素纳入并建立LRFS率的列线图预测模型。模型的C-index为0.86,内部验证C-index为0.81。ROC曲线分析结果显示,模型的3、5年LRFS率预测的AUC分别为0.89、0.85;校准曲线显示列线图预测的LRFS率与实际LRFS率接近;DCA分析显示模型的临床获益及应用价值较高。结论 BRCA1/2基因突变与保乳术后乳腺癌患者的局部复发相关,基于BRCA1/2基因突变列线图模型能够准确地预测保乳术后乳腺癌患者的LRFS率,并为乳腺癌患者手术方式的选择提供有效的科学依据。     

Prophylactic Mastectomy in BRCA1/2 Mutation Carriers and Women at Risk of Hereditary Breast Cancer: Long-Term Experiences at the Rotterdam Family Cancer Clinic

Background BRCA1/2 mutation carriers and women from a hereditary breast(/ovarian) cancer family have a highly increased risk of developing breast cancer (BC). Prophylactic mastectomy (PM) results in the greatest BC risk reduction. Long-term data on the efficacy and sequels of PM are scarce. Methods From 358 high-risk women (including 236 BRCA1/2 carriers) undergoing PM between 1994 and 2004, relevant data on the occurrence of BC in relation to PM, complications in relation to breast reconstruction (BR), mutation status, age at PM and preoperative imaging examination results were extracted from the medical records, and analyzed separately for women without (unaffected, n = 177) and with a BC history (affected, n = 181). Results No primary BCs occurred after PM (median follow-up 4.5 years). In one previously unaffected woman, metastatic BC was detected almost 4 years after PM (primary BC not found). Median age at PM was younger in unaffected women (P < .001), affected women more frequently were 50% risk carriers (P < .001). Unexpected (pre)malignant changes at PM were found in 3% of the patients (in 5 affected, and 5 unaffected women, respectively). In 49.6% of the women opting for BR one or more complications were registered, totaling 215 complications, leading to 153 surgical interventions (71%). Complications were mainly related to cosmetic outcome (36%) and capsular formation (24%). Conclusions The risk of developing a primary BC after PM remains low after longer follow-up. Preoperative imaging and careful histological examination is warranted because of potential unexpected (pre)malignant findings. The high complication rate after breast reconstruction mainly concerns cosmetic issues.