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Annals of breast surgery : an open access journal to bridge breast surgeons across the world最新文献

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Acellular dermal matrix used for lumpectomy cavity volume replacement mimicking as breast cancer recurrence: a case report 脱细胞真皮基质用于乳房肿瘤切除术腔容量置换模拟乳腺癌复发1例报告
Rafal Iskanderian, Mohamad H Masri, Naghma Nawaz, S. Grobmyer
: Acellular dermal matrix (ADM) has been used as a soft tissue replacement since its introduction in 1994. There is an emerging practice of filling the defects during breast conservation surgery (BCS) exclusively with diced ADM. A 57-year-old female with no family history of malignancies presented to our institution after undergoing left breast lumpectomy and sentinel lymph node biopsy for early stage left breast cancer at another facility in December 2019. Final histopathology revealed a low grade Invasive Ductal Carcinoma of the left breast of TNM stage pT1cN0M0, Estrogen/Progesterone receptors were positive, HER-2/neu was negative and the resection margins were negative for malignancy or atypia. Genetic profiling revealed high risk of recurrence and accordingly she received adjuvant chemotherapy and radiotherapy and was maintained on hormonal therapy. Six months after surgery, a surveillance chest computed tomography (CT) showed a 5.7 cm × 3.5 cm × 2.7 cm mass with a lobulated margin in the vicinity of the resected tumor in left breast and residual disease or recurrence could not be ruled out. Clinical examination did not reveal any suspicious ipsilateral breast mass, or pathological skin/nipple changes. Focused left breast Ultrasound (US) at the same time showed a 7.7 cm × 2 cm × 4.4 cm artificial appearing mass with a smoothly marginated border and swirling debris at the site of the previously resected malignancy. We contacted her surgeon and learned that in fact the patient had undergone the new procedure of lumpectomy cavity volume replacement with diced ADM. The literature on imaging features of ADM remains limited and imaging diagnosis of ADM remains largely based on clinical history and short-term follow-up. Therefore, ADM has increasingly become a differential consideration in diagnostic imaging, following reconstructive breast surgeries. This case describes the radiological features 6 months after using diced ADM in immediate reconstruction after BCS. These findings remain diagnostically challenging for radiologists and surgeons. Definitive diagnosis relies on clinical correlation.
脱细胞真皮基质(ADM)自1994年问世以来一直被用作软组织替代物。在保乳手术(BCS)中,有一种新兴的做法是专门用adm丁填充缺陷。2019年12月,一名57岁女性,无恶性家族史,在另一家医院接受了早期左乳腺癌的左乳房肿瘤切除术和前哨淋巴结活检。最终病理组织学为左乳浸润性导管癌,TNM期pT1cN0M0,雌激素/孕激素受体阳性,HER-2/neu阴性,切除缘恶性或异型阴性。遗传分析显示复发风险高,因此她接受了辅助化疗和放疗,并维持激素治疗。术后6个月胸部CT监测显示左乳切除肿瘤附近有一个5.7 cm × 3.5 cm × 2.7 cm的肿块,边缘呈分叶状,不排除残留病变或复发。临床检查未发现任何可疑的同侧乳房肿块,或病理性皮肤/乳头改变。左乳超声同时聚焦显示,在先前切除的恶性肿瘤部位出现7.7 cm × 2 cm × 4.4 cm的人工肿块,边缘平滑,漩涡状碎片。我们联系了她的外科医生,了解到患者实际上接受了乳房肿瘤切除空腔容量置换和ADM切块的新手术。关于ADM的影像学特征的文献仍然有限,ADM的影像学诊断主要基于临床病史和短期随访。因此,在乳房重建手术后,ADM越来越多地成为诊断影像学的不同考虑因素。本病例描述了在BCS术后立即重建使用ADM切片6个月后的影像学特征。这些发现对放射科医生和外科医生的诊断仍然具有挑战性。明确诊断依赖于临床相关性。
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引用次数: 0
A case report of the scarred abdomen and DIEP surgery— contraindication or opportunity for combined abdominal wall reconstruction? 腹部疤痕和DIEP手术的病例报告——联合腹壁重建的禁忌症还是机会?
J. Barnes, S. Bennett, M. Chadwick, R. Taghizadeh
: Various patterns of abdominal scarring are considered relative or absolute contraindications for deep inferior epigastric perforator (DIEP) flap harvest. There are implications for the vascular supply to and within the flap and also to the abdominoplasty flap used for donor site closure. In recent years, several authors have advocated techniques of safe flap harvest and donor site closure in the scarred abdomen. We present the first reported case of successful delayed DIEP breast reconstruction in a patient who was 1 year post adjuvant chemo and radiotherapy with a previous ileostomy (right abdominal wall), midline laparotomy and active colostomy (left abdominal wall). Pre-operative workup included joint plastic and colorectal consultations, routine bloods and computed tomography angiography (CTA). A joint procedure was carried out during which the active colostomy was isolated on the abdominal wall musculature and a hemi-DIEP was raised from the contralateral side with good intraflap flow despite a previous ileostomy on the flap side. The colostomy was resited in the abdominoplasty flap and the delayed breast reconstruction was successful performed. The flap, donor site and new colostomy site healed well with an uneventful postoperative course and a high level of patient satisfaction and a subjective improvement in abdominal contour for the patient. As the field of abdominal wall reconstruction grows and reliability of microsurgical breast reconstruction improves, increasingly challenging abdomens can be considered as safe donor sites for autologous breast reconstruction. Careful imaging, counselling and collaboration between plastic surgeons and colorectal surgeons can aid in appropriate management of these complex patients.
:各种类型的腹部瘢痕被认为是上腹部下穿通(DIEP)皮瓣收获的相对或绝对禁忌症。这对皮瓣及其内的血管供应以及用于供区闭合的腹部成形术皮瓣都有影响。近年来,几位作者提倡在伤痕累累的腹部安全地获取皮瓣和闭合供区的技术。我们报告了第一例成功延迟DIEP乳房重建的患者,该患者在辅助化疗和放疗后1年,既往进行过回肠造口术(右腹壁)、中线剖腹术和主动结肠造口术(左腹壁)。术前检查包括关节整形和结直肠会诊、常规血液检查和计算机断层造影(CTA)。进行了一项联合手术,在此过程中,在腹壁肌肉组织上隔离主动结肠造口术,并从对侧提起半DIEP,尽管之前在皮瓣侧进行了回肠造口术,但皮瓣内流量良好。结肠造口术在腹部成形术皮瓣中复位,延迟乳房重建成功。皮瓣、供体部位和新的结肠造口部位愈合良好,术后过程平稳,患者满意度高,患者腹部轮廓主观改善。随着腹壁重建领域的发展和显微外科乳房重建可靠性的提高,越来越具有挑战性的腹部可以被认为是自体乳房重建的安全供体部位。整形外科医生和结直肠外科医生之间的仔细成像、咨询和合作可以帮助对这些复杂的患者进行适当的管理。
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引用次数: 0
Tranexamic acid use in breast surgery: a systematic review and meta-analysis 氨甲环酸在乳腺手术中的应用:系统综述和荟萃分析
Alec A. Winder, P. McQuillan, B. Dijkstra
Background: We aimed to determine if tranexamic acid (TXA) is safe to use in breast surgery and does it reduce haematoma and seroma formation. Methods: Only high-quality randomized control trials (RCT’s) were included for the meta-analysis. Databases searched included Embase, Medline, the Cochrane Central Register of Controlled Trials, Mednar and google scholar. RCT’s study quality was assessed using the Cochrane risk of bias tool. Results: Ten studies were identified, 5 RCT’s and 5 non-RCT’s. Overall the risk of thromboembolic events was not significantly greater after TXA administration (P=0.35) in 2,283 patients from 8 studies. 4 RCT’s were included in the meta-analysis. For mastectomy patients with or without axillary surgery combined with mammoplasty procedures the rate of haematoma was unaffected [odds ratio (OR) =0.42, 95% confidence interval (CI): 0.19 to 0.76, P=0.30]. A small reduction in drainage volumes first 24 hours was observed [mean difference (MD) =−12 mL, 95% CI: −20.7 to −3.7, P=0.005], but no effect on late seroma formation (OR =1.04, 95% CI: 0.37 to 2.91, P=0.94). Conclusions: The overall quantity and quality of evidence for TXA use in breast surgery is extremely limited. The current study suggests there is likely to be minimal benefit, at least for mastectomy and mammoplasty patients, with a still undefined risk of thromboembolic events. No RCT’s were identified examining TXA use in breast reconstruction. then compared to
背景:我们的目的是确定氨甲环酸(TXA)在乳腺手术中使用是否安全,以及它是否能减少血肿和血清瘤的形成。方法:仅纳入高质量随机对照试验(RCT)进行荟萃分析。搜索的数据库包括Embase、Medline、Cochrane对照试验中央登记处、Mednar和谷歌学者。RCT的研究质量使用Cochrane偏倚风险工具进行评估。结果:确定了10项研究,其中5项为随机对照试验,5项为非随机对照试验。总的来说,在8项研究的2283名患者中,TXA给药后发生血栓栓塞事件的风险没有显著增加(P=0.35)。荟萃分析包括4项随机对照试验。对于有或没有腋窝手术和乳房成形术的乳房切除术患者,血肿发生率不受影响[比值比(or)=0.42,95%置信区间(CI):0.19至0.76,P=0.030]。观察到前24小时的引流量略有减少[平均差(MD)=−12 mL,95%可信区间:−20.7至−3.7,P=0.005],但对晚期血清瘤形成没有影响(OR=1.04,95%CI:0.37-2.91,P=0.94)。结论:TXA在乳腺手术中使用的总体证据数量和质量非常有限。目前的研究表明,至少对乳房切除术和乳房成形术患者来说,益处可能微乎其微,血栓栓塞事件的风险仍不明确。在检查TXA在乳房重建中的应用时,没有发现随机对照试验。然后与
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引用次数: 3
Lymphatic contribution in a chronic breast seroma: a case report 淋巴在慢性乳腺血清肿中的作用:1例报告
Harminder Sandhu, Olivia C. Means, E. Komorowska‐Timek
A seroma is a common complication of any surgical procedure that creates dead space allowing for fluid collection. The etiology of seroma formation is not uniform and has been attributed to fibrosis, a subclinical infection, aberrant behavior of lining cells, or lymphatic leak. Contribution of lymphatic flow as the main cause of a persistent seroma seems particularly relevant if the surgery involved damage to adjacent lymphatic structures. We describe a case of a 61-year-old female who presented with a chronic breast seroma despite 13 months of intermittent drainage and attempts at sclerotherapy. Previously, the patient underwent right breast reconstruction with a tissue expander and latissimus dorsi flap following a modified radical mastectomy and failed right sided reconstruction with a deep inferior epigastric perforator flap for breast cancer. To address the chronic seroma, reverse axillary lymphatic mapping was performed prior to seroma excision to visualize a suspected lymphatic contribution. A single lymphatic collector connecting to the seroma cavity was visualized. After ligation of the lymphatic vessel and replacement of the latissimus dorsi and tissue expander, the seroma was finally cured. With this report, we would like to emphasize that identification and elimination of contributing lymphatic vessels appears to be the key component in management of persistent seromas in the basin of major lymphatic drainage.
浆液肿是任何外科手术的常见并发症,因为它会造成死亡空间,便于液体收集。血肿形成的病因并不统一,可归因于纤维化、亚临床感染、内膜细胞异常行为或淋巴渗漏。如果手术涉及到邻近淋巴结构的损伤,淋巴流作为持续性浆肿的主要原因似乎特别相关。我们描述了一个病例61岁的女性谁提出了一个慢性乳腺浆液瘤尽管13个月的间歇引流和尝试硬化疗法。此前,该患者在改良的乳房根治术后接受了组织扩张器和背阔肌瓣的右乳房重建,并因乳腺癌接受了深下腹部穿支瓣的右乳房重建失败。为了治疗慢性血肿,在血肿切除前进行腋窝淋巴逆行作图,以观察可疑的淋巴贡献。可见连接血清肿腔的单个淋巴收集器。经结扎淋巴管,更换背阔肌和组织扩张器后,血肿最终治愈。在本报告中,我们想强调的是,识别和消除淋巴血管似乎是处理主要淋巴引流盆地持续性血清肿的关键组成部分。
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引用次数: 0
Vascularized lymph vessel transplant (VLVT): our experience and lymphedema treatment algorithm 血管化淋巴管移植(VLVT):我们的经验和淋巴水肿的治疗方法
Lynn M Orfahli, Vahe Fahradyan, Wei F. Chen
Supermicrosurgical lymphaticovenicular anastomosis (LVA) and vascularized lymph node transplant (VLNT) are established surgical procedures for fluid-predominant extremity lymphedema. LVA is most effective for early disease, while VLNT is effective for more advanced lymphatic injury. However, the devastating complication of donor-site lymphedema has been reported following VLNT. Contour deformity caused by the bulky VLNT flaps further decreases the appeal of this procedure. Vascularized lymph vessel transplant (VLVT) has emerged as a promising new alternative to VLNT. This novel technique has challenged the accepted belief that incorporation of lymph nodes (LNs) into a flap is necessary for the physiologic treatment of advanced lymphedema. First described with the first dorsal metatarsal artery (FDMA) flap, the superficial circumflex iliac artery perforator (SCIP) and thoracodorsal artery perforator (TDAP) flaps were later on described as additional options for VLVT. Outcomes of VLVT have been found to be mostly equivalent to those of VLNT in alleviating symptoms and improving quality of life (QoL). By not sacrificing LNs, it theoretically reduces donor site morbidity. To date, donor-site lymphedema as a sequela of VLVT harvest has not been reported. As with other modalities for the treatment of lymphedema, an understanding of the progression of this disease and careful patient selection is imperative for the successful implementation of VLVT. A review of the literature, combined with the senior author’s experience with these novel techniques, was utilized to generate an updated algorithm for the surgical treatment of extremity
超显微外科淋巴结-静脉吻合(LVA)和血管化淋巴结移植(VLNT)是治疗以液体为主的四肢淋巴水肿的公认手术方法。LVA对早期疾病最有效,而VLNT对更晚期的淋巴损伤有效。然而,据报道,VLNT术后供体部位淋巴水肿的严重并发症。巨大的VLNT皮瓣引起的轮廓畸形进一步降低了该手术的吸引力。血管化淋巴管移植(VLVT)已成为一种很有前途的替代VLNT的新方法。这项新技术挑战了公认的观点,即将淋巴结(LNs)并入皮瓣对于晚期淋巴水肿的生理治疗是必要的。第一跖骨背动脉(FDMA)皮瓣、旋髂浅动脉穿支(SCIP)和胸背动脉穿支皮瓣(TDAP)最初被描述为VLVT的额外选择。在减轻症状和提高生活质量(QoL)方面,VLVT的结果与VLNT的结果基本相同。通过不牺牲LNs,它在理论上降低了供体部位的发病率。到目前为止,供体部位淋巴水肿作为VLVT收获的后遗症还没有报道。与其他治疗淋巴水肿的方法一样,了解这种疾病的进展并仔细选择患者对于成功实施VLVT至关重要。对文献的回顾,结合资深作者对这些新技术的经验,被用来生成一个用于四肢手术治疗的更新算法
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引用次数: 4
Acellular dermal matrices in breast reconstruction: a narrative review and institutional perspective 脱细胞真皮基质在乳房重建:叙述回顾和制度的观点
Shanshan He, Jian Yin
Breast reconstruction after mastectomy is commonly undertaken in patients inappropriate for breast conserving surgery, women who are at high genetic risk for breast cancer or otherwise based on patient preference. Current breast reconstruction techniques are diverse and may involve the use of an autologous tissue flap, tissue expanders or definitive implants. Regardless of the technique used, the use of acellular dermal matrices (ADMs) has become increasingly prevalent. The increased uptake of ADMs has led to a paradigm shift in breast reconstruction. This has led to a proliferation of new products and materially contributed to increased rates of pre-pectoral reconstruction. Single-stage and two-stage breast reconstruction remain a contentious issue with increasing evidence justifying direct-to-implant reconstruction in well selected patients with ADMs. ADMs are able to provide solutions to a multitude of issues surrounding inadequate tissue coverage and support, such as implant rippling, implant migration and capsular contracture. This review outlines an overview of the history of ADMs, commonly used ADMs and addresses the evidence with respect to known complications of ADMs. A number of product alternatives to ADMs are explored and an analysis of materials and characteristics are also provided. Notwithstanding cheaper costs of manufacturing these products may offer comparable outcomes. Ultimately this narrative review provides an institutional insight into breast reconstruction in a high volume Australian centre routinely employing ADMs. Important adjuncts such as indocyanine green angiography (ICGA) and negative pressure wound therapy (NPWT) have enhanced outcomes in our practice facilitating the identification of patients likely to benefit from staged expander based reconstruction.
乳房切除术后乳房重建通常用于不适合保乳手术的患者、乳腺癌遗传风险高的女性或基于患者偏好的其他患者。目前的乳房重建技术多种多样,可能包括自体组织瓣、组织扩张器或最终植入物的使用。无论使用何种技术,脱细胞真皮基质(ADMs)的使用已经变得越来越普遍。ADMs的增加已导致乳房重建的范式转变。这导致了新产品的激增,并极大地促进了胸前重建率的增加。单期和两期乳房重建仍然是一个有争议的问题,越来越多的证据表明,在精心挑选的adm患者中,直接到植入物重建是正确的。ADMs能够为围绕组织覆盖和支持不足的众多问题提供解决方案,例如种植体波纹,种植体迁移和荚膜挛缩。这篇综述概述了ADMs的历史,常用的ADMs和关于ADMs已知并发症的证据。探索了一些替代adm的产品,并对材料和特性进行了分析。尽管制造这些产品的成本较低,但可能会产生类似的结果。最终,这篇叙述性的综述提供了一个机构的洞察乳房重建在高容量的澳大利亚中心常规使用adm。在我们的实践中,重要的辅助手段如吲哚青绿血管造影(ICGA)和负压伤口治疗(NPWT)提高了结果,有助于识别可能受益于分阶段扩张器重建的患者。
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引用次数: 1
Advantages and disadvantages of using the internal thoracic artery perforators as recipient vessels in autologous breast reconstruction—a narrative review 胸内动脉穿支作为受体血管在自体乳房重建中的优缺点——叙述性综述
S. Beecher
The rates of breast reconstruction after mastectomy are rising each year. Autologous breast reconstruction using free tissue transfer is considered the gold standard reconstruction, especially with recent controversy surrounding breast implant-associated anaplastic large cell lymphoma (BIA-ALCL). During free tissue transfer, the flap vessels must be anastomosed to recipient vessels on the chest wall. There are multiple options of recipient vessels during microvascular breast reconstruction. Most commonly, the thoracodorsal vessels or the internal thoracic vessels [also known as the internal mammary (IM) vessels] are used as the recipient vessels for microvascular anastomosis of the free tissue transfer. Other second-line options include the thoracoacromial axis and the lateral thoracic vessels. The use of perforators of the internal thoracic vessels for free flap anastomosis during autologous breast reconstruction has been in use for almost twenty years. They are generally favoured over use of thoracodorsal vessels as they result in medialisation of the flap. In recent years, the use of perforators of the internal thoracic vessels has become popular. Great debate surrounds whether or not they should be used as recipient vessels as opposed to the conventional main vessels. In this article, we discuss the advantages and disadvantages of both techniques to guide the choice of reconstructive microsurgeons.
乳房切除术后乳房重建的比率每年都在上升。使用游离组织转移的自体乳房重建被认为是金标准重建,尤其是最近围绕乳房植入相关间变性大细胞淋巴瘤(BIA-ALCL)的争议。在游离组织移植过程中,皮瓣血管必须与胸壁上的受体血管吻合。在微血管乳房重建过程中,受体血管有多种选择。最常见的是,胸背血管或胸内血管[也称为乳内血管(IM)]用作游离组织转移的微血管吻合的受体血管。其他二线选择包括胸肩峰轴和胸外侧血管。在自体乳房重建过程中,使用胸内血管穿支进行游离皮瓣吻合已经使用了近20年。它们通常比使用胸背血管更受欢迎,因为它们会导致皮瓣内侧化。近年来,胸廓内血管穿通器的使用越来越普遍。围绕着它们是否应该被用作接收船只而不是传统的主要船只展开了激烈的争论。在这篇文章中,我们讨论了这两种技术的优缺点,以指导重建显微外科医生的选择。
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引用次数: 0
The interface between breast conserving surgery with oncoplastic techniques and mastectomy: when to perform one or the other—a narrative review 肿瘤整形技术保乳手术和乳房切除术之间的接口:何时进行其中一种——叙述性综述
R. Pardo-García, M. Montero-Fernández
Breast Consultant Surgeon, Nottingham University Trust, Nottingham Breast Institute, Nottingham, UK; Clinical Director of Cellular Pathology, Consultant Histopathologist, Manchester University Foundation Trust, Manchester, UK Contributions: (I) Conception and design: R Pardo-Garcia; (II) Administrative support: R Pardo-Garcia; (III) Provision of study materials or patients: R Pardo-Garcia; (IV) Collection and assembly of data: Both authors; (V) Data analysis and interpretation: Both authors; (VI) Manuscript writing: Both authors; (VII) Final approval of manuscript: Both authors. Correspondence to: Ricardo Pardo-Garcia. Nottingham University Hospitals NHS Trust, City Hospital Campus, Breast Institute, Hucknall Rd., Nottingham NG5 1PB, UK. Email: rpardo133@yahoo.es.
英国诺丁汉诺丁汉乳房研究所,诺丁汉大学信托基金会乳腺顾问外科医生;细胞病理学临床主任,咨询组织病理学家,曼彻斯特大学基金会信托,曼彻斯特,英国贡献:(I)概念和设计:R Pardo-Garcia;行政支助:帕尔多-加西亚博士;(三)提供研究材料或患者:R Pardo-Garcia;(四)数据的收集和汇编:两位作者;数据分析和解释:两位作者;(六)稿件撰写:双方作者;(七)稿件最终审定:两位作者。通讯:里卡多·帕多·加西亚。诺丁汉大学医院NHS信托,城市医院校园,乳房研究所,诺丁汉NG5 1PB。电子邮件:rpardo133@yahoo.es。
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引用次数: 1
Association between body mass index and adverse surgical outcomes of implant-based breast reconstruction: a prospective cohort study of 5,545 breast reconstructions 身体质量指数与基于植入物的乳房重建不良手术结果之间的关系:一项对5545例乳房重建的前瞻性队列研究
D. Goltsman, S. Warrier, C. Mak, A. Spillane, J. Ascherman
Chris O’Brien Lifehouse Camperdown, New South Wales, Australia; Royal Prince Alfred Institute of Academic Surgery, The University of Sydney, Camperdown, New South Wales, Australia; Breast and Surgical Oncology at the Poche Centre, The Mater Hospital, North Sydney, NSW, Australia; Royal North Shore Hospital, Northern Clinical School, The University of Sydney, Sydney, New South Wales, Australia; Division of Plastic Surgery, Columbia University Medical Centre, New York-Presbyterian Hospital, New York, NY, USA Contributions: (I) Conception and design: All authors; (II) Administrative support: D Goltsman, S Warrier, JA Ascherman; (III) Provision of study materials or patients: D Goltsman, S Warrier, JA Ascherman; (IV) Collection and assembly of data: All authors; (V) Data analysis and interpretation: All authors; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Jeffrey A. Ascherman, MD. 161 Fort Washington Avenue, Suite 509, Columbia University Medical Center, New York, NY 10032, USA. Email: jaa7@cumc.columbia.edu.
Chris O'Brien Lifehouse Camperdown,澳大利亚新南威尔士州;澳大利亚新南威尔士州坎珀敦悉尼大学阿尔弗雷德王子皇家学术外科研究所;澳大利亚新南威尔士州北悉尼马特医院波切中心的乳腺和肿瘤外科;澳大利亚新南威尔士州悉尼悉尼大学北方临床学院皇家北岸医院;哥伦比亚大学医学中心整形外科,纽约长老会医院,纽约,美国贡献:(I)构思和设计:所有作者;(II) 行政支持:D Goltsman、S Warrier、JA Ascherman;(III) 提供研究材料或患者:D Goltsman、S Warrier、JA Ascherman;(IV) 数据收集和汇编:所有作者;(V) 数据分析和解释:所有作者;(VI) 手稿写作:所有作者;(VII) 手稿的最终批准:所有作者。通信地址:Jeffrey A.Ascherman,MD。161 Fort Washington Avenue,Suite 509,Columbia University Medical Center,New York,NY 10032,USA电子邮件:jaa7@cumc.columbia.edu.
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引用次数: 0
Prophylactic nipple-sparing mastectomy for CHEK2 mutation: a case report CHEK2突变预防性保留乳头乳房切除术1例报告
K. Yuan, Kevin M. Lin-Hurtubise, Mark Y Lee
Checkpoint Kinase 2 (CHEK2) *1100delC is a rare genetic mutation that confers an elevated lifetime risk of breast cancer that increases with each afflicted family member. This variant may be found in 1.1% of breast cancer patients, or up to 2.9% of breast cancer patients with Northeastern European heritage. Given a lifetime risk that ranges from 20–44%, patients with CHEK2*1100delC may consider the option of bilateral prophylactic mastectomy. We describe the case of a 35-year-old female with a strong family history of breast cancer who tested positive for the CHEK2*1100delC mutation. The patient opted to undergo bilateral prophylactic nipple-sparing mastectomy with temporary tissue expander placement and breast reconstruction 6 months later. The patient continues to report a good post-operative outcome six years after her bilateral mastectomy. To our knowledge, no case reports describing prophylactic mastectomy for CHEK2 mutation have been published. Due to a lifetime risk of breast cancer approaching that of other well-studied mutations, patients with CHEK2*1100delC should be offered the option of bilateral prophylactic mastectomy with extensive discussion of risks, benefits, alternatives, cosmetic outcome, and psychosocial consequences. So far, no clear survival benefit has been identified in patients who have undergone prophylactic mastectomy compared to routine surveillance. However, patients may benefit from improved breast and psychosocial well-being, as prophylactic mastectomy can reduce the risk of breast cancer by more than 90%. Depending on the experience and expertise of the clinician, both skin or nipplesparing mastectomy may be considered as they have equivalent outcomes.
检查点激酶2 (CHEK2) *1100delC是一种罕见的基因突变,它会增加患乳腺癌的终生风险,并且随着家庭成员的增加而增加。这种变异可能在1.1%的乳腺癌患者中发现,或高达2.9%的东北欧洲血统的乳腺癌患者中发现。鉴于CHEK2*1100delC的终生风险在20-44%之间,患者可以考虑双侧预防性乳房切除术。我们描述了一名35岁的女性,有强烈的乳腺癌家族史,她的CHEK2*1100delC突变检测呈阳性。患者选择双侧预防性保留乳头乳房切除术并临时放置组织扩张器,6个月后乳房重建。患者在双侧乳房切除术6年后继续报告良好的术后结果。据我们所知,没有病例报告描述CHEK2突变的预防性乳房切除术已发表。由于CHEK2*1100delC患者的终生乳腺癌风险接近其他已充分研究的突变,因此应向患者提供双侧预防性乳房切除术的选择,并广泛讨论风险、益处、替代方案、美容结果和社会心理后果。到目前为止,与常规监测相比,尚未发现预防性乳房切除术对患者的生存有明显的益处。然而,患者可能受益于乳房和心理健康的改善,因为预防性乳房切除术可以将乳腺癌的风险降低90%以上。根据临床医生的经验和专业知识,皮肤或乳头切除都可以考虑,因为它们具有相同的结果。
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Annals of breast surgery : an open access journal to bridge breast surgeons across the world
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