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A patient with MEN1 typical features and MEN2-like features. 患者具有MEN1典型特征和men2样特征。
IF 1.2 Pub Date : 2016-05-01 Epub Date: 2016-04-08 DOI: 10.2217/ije-2015-0008
Diala El-Maouche, James Welch, Sunita K Agarwal, Lee S Weinstein, William F Simonds, Stephen J Marx

Multiple endocrine neoplasia (MEN) type 1 (MEN1) and 2 (MEN2) rarely co-exist in one case. Here we report a patient with features of both syndromes. The patient presented with typical MEN1 features plus pheochromocytoma and thickened corneal nerves. She had a germline 1132delG frameshift mutation in MEN1, no mutation in CDKN1B (p27) and no RET mutation, but had both RET polymorphisms Gly691Ser and Arg982Cys. This is the first case report of a combination of typical clinical findings of MEN1 harboring a germline MEN1 mutation and the MEN2-like phenotype with negative full RET gene analysis of pathogenic variants. Possible explanations include a previously unrecognized phenotype-genotype association or the influence of potential phenotypic modifying RET variants. Furthermore, the combination observed in this patient may point to a single molecular pathway, and supports the possibility of as yet unrecognized connections between the molecular pathways for MEN1/menin protein and MEN2/RET protein.

多发性内分泌瘤(MEN) 1型(MEN1)和2型(MEN2)在同一病例中很少共存。在这里,我们报告一个具有两种综合征特征的患者。患者表现为典型的MEN1特征,并伴有嗜铬细胞瘤和角膜神经增厚。她在MEN1中有一个种系1132delG移码突变,CDKN1B (p27)没有突变,RET也没有突变,但RET多态性Gly691Ser和Arg982Cys都有。这是首次报道MEN1携带种系MEN1突变的典型临床表现和men2样表型与病原变异全RET基因分析阴性相结合的病例。可能的解释包括以前未被认识到的表型-基因型关联或潜在的表型修饰RET变异的影响。此外,在该患者中观察到的组合可能指向单一分子途径,并支持MEN1/menin蛋白和MEN2/RET蛋白分子途径之间尚未被识别的联系的可能性。
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引用次数: 6
Ultrasonographically guided, compartment-oriented lymph node dissection in the management of papillary thyroid cancer 超声引导下室型淋巴结清扫在甲状腺乳头状癌治疗中的应用
IF 1.2 Pub Date : 2016-04-19 DOI: 10.2217/IJE-2016-0001
G. Sakorafas, A. Koureas, D. Nasikas
Lymphatic metastases are common in papillary thyroid cancer (PTC) at the time of diagnosis [1]. In the presence of synchronous cervical lymphadenopathy, diagnosed clinically or ultrasonographically, the standard surgical approach has been the modified radical lymph node dissection (MRLND), performed at the time of initial total thyroidectomy. This strategy achieves optimal local control of the disease (thereby minimizing local recurrence rates), improves the efficacy of postoperative radioactive therapy (aiming to eradicate potential residual microscopic disease) and facilitates patient’s monitoring during follow-up by measuring serum thyroglobulin [2]. During recent decades, a modern classification of neck lymph nodes has been widely adopted, based on findings and landmarks from cross-sectional anatomic imaging; this is a useful aid in mapping nodal surgical intervention. This classification system is composed of six major nodal regions (levels or compartments I to VI) and defines a compartment-oriented neck dissection. Sublevel classification is also used when certain zones within the larger levels have independent biological significance [3]. Current evidence suggests specific patterns of lymphatic metastases in PTC. Central (compartment VI) lymph nodes are often the first site for lymphatic metastases from PTC, since this level is considered as the first lymphatic basin draining thyroid parenchyma. The most common lateral lymph node regions harboring metastases are levels III and IV [4,5]. Metastases to levels II and V are more rarely observed [6]. Finally, metastases to level I nodes are extremely rare in PTC [6,7]. Recent advances in imaging allow – with acceptable accuracy – the recognition of the presence of pathological lymph nodes within the different compartments of the neck. Currently, high-resolution ultrasonography (US) is being used extensively in the preoperative assessment of cervical lymph nodes (sensitivity 97%, specificity 93%) [8]. The US characteristics of a suspicious lymph node include increased size, round shape (short axis to long axis ratio ≥0.5), absent echogenic hilum, irregular margins, thickened hypoechoic cortex, intranodal calcifications, cystic necrosis, peripheral or mixed vascularity and increased elasticity score. The accuracy of US in recognizing pathologic neck lymph nodes is higher for the lateral nodal compartments, while US evaluation of central compartment lymph nodes has been proved to be of lower sensitivity in detecting metastatic lymph nodes especially in patients with coexistent chronic
淋巴转移在诊断甲状腺乳头状癌(PTC)时很常见。在临床或超声诊断为同步性宫颈淋巴结病的情况下,标准的手术方法是改良的根治性淋巴结清扫术(MRLND),在首次全甲状腺切除术时进行。该策略实现了对疾病的最佳局部控制(从而使局部复发率最小化),提高了术后放射治疗的疗效(旨在根除潜在残留的显微疾病),并便于患者在随访中通过测定血清甲状腺球蛋白[2]进行监测。近几十年来,颈部淋巴结的现代分类被广泛采用,基于横断面解剖成像的发现和标志;这对定位淋巴结手术干预是一个有用的帮助。该分类系统由六个主要淋巴结区域(级别或隔室I至VI)组成,并定义了隔室型颈夹层。当较大水平内的某些区域具有独立的生物学意义[3]时,也使用亚水平分类。目前的证据表明PTC有特定的淋巴转移模式。中央(第六室)淋巴结通常是PTC淋巴转移的第一个部位,因为这个淋巴结被认为是第一个引流甲状腺实质的淋巴池。最常见的侧淋巴结转移区为III级和IV级[4,5]。转移到II级和V级的病例更为罕见。最后,转移到I级淋巴结在PTC中极为罕见[6,7]。成像技术的最新进展——以可接受的准确性——允许在颈部不同腔室中识别病理淋巴结的存在。目前,高分辨率超声(US)被广泛应用于颈淋巴结术前评估(灵敏度97%,特异性93%)[8]。可疑淋巴结的超声特征包括体积增大、形状圆形(短轴与长轴比值≥0.5)、门部无回声、边缘不规则、低回声皮层增厚、结内钙化、囊性坏死、外周或混合血管以及弹性评分升高。超声识别病理性颈部淋巴结的准确性在侧结室较高,而超声评估中央室淋巴结已被证明在检测转移性淋巴结时敏感性较低,特别是在共存慢性患者中
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引用次数: 0
New systemic therapies for locally advanced and metastatic thyroid cancer 局部晚期和转移性甲状腺癌的新全身疗法
IF 1.2 Pub Date : 2016-04-14 DOI: 10.2217/IJE-2015-0002
C. Herrick, J. Moley
Thyroid cancer affects one in 100 people over their lifetime. Differentiated and medullary thyroid cancer, refractory to traditional therapy, respond poorly to chemotherapeutic agents. However, tyrosine kinase inhibitors provide new hope for stabilizing disease in patients with advanced progressive disease. There are multiple tyrosine kinase inhibitors under study for thyroid cancer and currently four drugs that are US FDA approved. Nonetheless, use of these drugs should be selective given a significant adverse event profile and diseases with a typically indolent course. This review will cover molecular mechanisms in thyroid cancer as they are relevant to targeted therapies and review available evidence for the safety and efficacy of therapies currently approved and under study for thyroid cancer.
一生中,每100人中就有1人患甲状腺癌。分化型和髓样甲状腺癌,传统治疗难治性,对化疗药物的反应较差。然而,酪氨酸激酶抑制剂为晚期进行性疾病患者的疾病稳定提供了新的希望。有多种酪氨酸激酶抑制剂正在研究用于甲状腺癌,目前有四种药物获得了美国FDA的批准。尽管如此,这些药物的使用应该是选择性的,因为有显著的不良事件概况和典型的惰性过程的疾病。本综述将涵盖甲状腺癌的分子机制,因为它们与靶向治疗有关,并回顾目前已批准和正在研究的甲状腺癌治疗的安全性和有效性的现有证据。
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引用次数: 1
Value-based healthcare: implications for thyroid cancer 基于价值的医疗保健:对甲状腺癌的影响
IF 1.2 Pub Date : 2016-04-08 DOI: 10.2217/IJE-2015-0005
A. Ying, T. Feeley, M. Porter
Today's delivery of care to thyroid cancer patients is complex, and costly, with uneven outcomes that can be improved. The incidence of thyroid cancer is rising and requires coordinated, multidisciplinary care with high volume centers that is not always available in our current fragmented healthcare system. To address the needs of patients, providers and payers, we believe that thyroid cancer care needs to be reexamined from the perspective of value for the patient, which is defined as the outcomes that matter to patients relative to the cost of delivering them. This paper provides recommendations based on the key principles of the value-based approach to transform the delivery of thyroid cancer care.
目前,对甲状腺癌患者的治疗既复杂又昂贵,而且治疗效果参差不齐。甲状腺癌的发病率正在上升,需要协调,多学科的高容量中心的护理,这在我们目前分散的医疗保健系统中并不总是可用的。为了满足患者,提供者和支付方的需求,我们认为甲状腺癌护理需要从患者价值的角度重新审视,这被定义为相对于交付成本而言对患者重要的结果。本文提供了基于价值为基础的方法的关键原则的建议,以改变甲状腺癌护理的交付。
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引用次数: 6
Laser ablation with or without chemoembolization for unresectable neuroendocrine liver metastases: a pilot study 激光消融伴或不伴化疗栓塞治疗不可切除的神经内分泌性肝转移:一项初步研究
IF 1.2 Pub Date : 2016-04-08 DOI: 10.2217/IJE.15.34
Claudio M Pacella, Sara Nasoni, F. Grimaldi, E. Stasio, I. Misischi, S. Bianchetti, E. Papini
Aim: To evaluate the effectiveness of laser ablation (LA) with or without selective transarterial chemoembolization in patients with large, isolated or oligonodular unresectable neuroendocrine liver matastases. Materials & methods: Ten patients (mean age: 53.6 years ± 14.1; range: 24–79) with neuroendocrine tumors (NETs) and 13 liver matastases (mean diameter: 4.3 ± 2.8 cm; range: 1.5–12) underwent LA alone (n = 9) or LA followed by selective transarterial chemoembolization (n = 3). Results: Complete response was obtained in six patients with LA alone and in two patients with combined treatment. The 5-year overall survival rates from the initial diagnosis and post-treatment were 80 and 50%, respectively. Conclusion: This treatment modality may provide effective control of tumor burden and general symptoms improvement in patients with limited but unresectable disease.
目的:评价激光消融(LA)联合选择性经动脉化疗栓塞治疗大的、孤立的或少结节性不可切除的肝神经内分泌转移瘤的疗效。材料与方法:10例患者(平均年龄53.6岁±14.1岁;范围:24-79),伴有神经内分泌肿瘤(NETs)和13个肝转移灶(平均直径:4.3±2.8 cm;范围:1.5-12),分别接受LA单独治疗(n = 9)或LA后选择性经动脉化疗栓塞(n = 3)。结果:6例患者单独LA治疗获得完全缓解,2例患者联合治疗。从最初诊断和治疗后的5年总生存率分别为80%和50%。结论:这种治疗方式可有效控制肿瘤负荷,改善有限但不可切除的患者的一般症状。
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引用次数: 6
Simulation for endocrine surgery training: a call to action 模拟内分泌外科训练:行动的呼唤
IF 1.2 Pub Date : 2016-04-08 DOI: 10.2217/IJE-2016-0003
T. Pandian, M. Khatib, Jad M. Abdelsattar, D. Farley
The approach to surgical education has undergone metamorphosis in the last two decades. The mantra, ‘see one, do one, teach one’ has been replaced colloquially with ‘see one, simulate many deliberately, do one’. Simulation has become an integral part of surgical training across many specialties. A large amount of resources, time and expertise have been devoted to the development and study of simulation's role for surgical mastery and improved patient outcomes. Despite significant advances, there is still much to be learned. Many specialties, such as endocrine surgery, are yet to contribute to this effort. Herein, we assess the state of simulation in endocrine surgery and call for experts in the field to unite and join the simulation movement.
在过去的二十年里,外科教育的方法发生了巨大的变化。“看一、做一、教一”的口头禅已经被“看一、刻意模拟多、做一”的口头禅取代。模拟已经成为许多专科外科训练中不可或缺的一部分。大量的资源、时间和专业知识已经投入到开发和研究模拟在外科手术掌握和改善患者预后方面的作用。尽管取得了重大进展,但仍有许多东西需要学习。许多专科,如内分泌外科,尚未对此作出贡献。在此,我们评估了内分泌外科模拟的现状,并呼吁该领域的专家团结起来,加入模拟运动。
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引用次数: 1
Informed consent for low-risk thyroid cancer 低风险甲状腺癌的知情同意
IF 1.2 Pub Date : 2016-04-08 DOI: 10.2217/IJE-2015-0010
M. Rosenthal, P. Angelos, K. Bible, C. Fassler, S. Finder, L. Greene, M. Tulchinsky
Significant barriers to informed consent surround the clinical management of adult patients with well-differentiated thyroid cancer. The literature reveals lack of disclosure surrounding clinical equipoise; confusing and conflicting terminology; and an insufficient number of prospective trials with proper ethical oversight. We provide guidance for valid consent to treatment in this population, and propose stipulative definitions for a variety of terms used in this context. Three critical areas are addressed: surgical management, radioactive iodine management and nonvalidated practice. Sound ethical frameworks for valid consent in patients with low-risk thyroid cancer include consent to observational (or ‘active surveillance’) research protocols, consent to nonvalidated practice and consent when there are opposing standards of care due to insufficient data and disagreement among the community of experts.
成年高分化甲状腺癌患者的临床管理面临着知情同意的重大障碍。文献显示缺乏对临床平衡的披露;混淆和冲突的术语;而且在适当的道德监督下进行的前瞻性试验数量不足。我们为这一人群的有效同意治疗提供指导,并提出在此背景下使用的各种术语的规定定义。涉及三个关键领域:手术管理,放射性碘管理和未经验证的做法。低风险甲状腺癌患者有效同意的健全伦理框架包括同意观察性(或“主动监测”)研究方案,同意未经验证的做法,以及同意由于数据不足和专家群体之间的分歧而存在反对的护理标准。
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引用次数: 7
Use of the gamma probe to identify multigland disease in primary hyperparathyroidism. 使用伽玛探针识别原发性甲状旁腺功能亢进的多腺体疾病。
IF 1.2 Pub Date : 2016-02-01 DOI: 10.2217/ije.15.27
Kirby Tobin, Rachel R Ayers, Mohammad Rajaei, Rebecca S Sippel, Courtney J Balentine, Dawn Elfenbein, Herb Chen, David F Schneider

Aim: The purpose of this study was to determine threshold gamma probe counts to distinguish single adenoma (SA) from multigland disease (MGD) during radioguided parathyroidectomy.

Methods: A retrospective analysis of 1656 patients was performed. Ex vivo counts of the first excised gland were taken and recorded as a percentage of background counts.

Results: 69.4% of MGD patients had counts below the 50% threshold. The 50% threshold correctly grouped 72.8% of our cohort. Counts of more than 100% were accurate for grouping SA, with only 6.8% of patients with counts more than 100% having MGD.

Conclusions: The gamma probe can aid surgeons in deciding to continue neck exploration if MGD is suspected or wait for labs to confirm cure if SA is suspected.

目的:本研究的目的是在放射引导下甲状旁腺切除术中确定阈值伽马探针计数以区分单一腺瘤(SA)和多腺疾病(MGD)。方法:对1656例患者进行回顾性分析。取第一个切除腺体的离体计数并记录为背景计数的百分比。结果:69.4%的MGD患者计数低于50%阈值。50%的阈值正确分组了72.8%的队列。计数超过100%对SA的分类是准确的,计数超过100%的患者中只有6.8%患有MGD。结论:伽玛探头可以帮助外科医生在怀疑MGD时决定继续颈部探查,或在怀疑SA时等待实验室确认治疗。
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引用次数: 5
Surgical management of adrenocorticotropic hormone-secreting pituitary adenomas 促肾上腺皮质激素分泌垂体腺瘤的外科治疗
IF 1.2 Pub Date : 2016-01-18 DOI: 10.2217/IJE.15.26
E. Kulubya, D. Donoho, J. Carmichael, G. Zada
Cushing's disease is defined as hypercortisolemia caused by secretion of adrenocorticotropic hormone from a pituitary adenoma. The diagnosis of Cushing's disease is based on clinical symptoms, laboratory and imaging findings. Once an adrenocorticotropic-hormone-secreting adenoma is found, the standard of care is transsphenoidal adenomectomy. MRI negative microadenomas and large, invasive macroadenomas provide a surgical and clinical challenge and are best handled at high volume centers. Multiple options exist for refractory disease or recurrence, including repeat surgery, radiosurgery and radiotherapy, medical management and bilateral adrenalectomy.
库欣病被定义为由垂体腺瘤分泌促肾上腺皮质激素引起的高皮质醇血症。库欣病的诊断是基于临床症状、实验室和影像学检查结果。一旦发现促肾上腺皮质激素分泌腺瘤,标准的治疗方法是经蝶窦腺瘤切除术。MRI阴性的微腺瘤和较大的侵袭性大腺瘤提供了手术和临床挑战,最好在高容量中心处理。对于难治性疾病或复发存在多种选择,包括重复手术、放射外科和放疗、医疗管理和双侧肾上腺切除术。
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引用次数: 0
Ovarian cancer: is chemotherapy before surgery the way forward? 卵巢癌:手术前化疗是未来的方向吗?
IF 1.2 Pub Date : 2016-01-18 DOI: 10.2217/IJE.15.30
S. Kehoe, Rami Fares, A. Phillips
The treatment of advanced ovarian cancer is a combination of surgery and platin-based chemotherapy, with surgery traditionally the first intervention. Neoadjuvant therapy was only used in women who were deemed unfit for an operation. However, in recent years, two prospective randomized studies have evaluated the concept of neoadjuvant chemotherapy, and in both studies the results revealed that neoadjuvant chemotherapy with delayed surgery afforded similar survival rates compared with primary surgery but with reduced treatment-related morbidity. Thus, a novel evidence-based alternative approach to advanced ovarian cancer is now available.
晚期卵巢癌的治疗是手术和以铂为基础的化疗的结合,传统上手术是第一个干预措施。新辅助治疗仅用于被认为不适合手术的妇女。然而,近年来,两项前瞻性随机研究评估了新辅助化疗的概念,两项研究的结果都表明,延迟手术的新辅助化疗与初次手术相比具有相似的生存率,但治疗相关的发病率降低。因此,一种新的基于证据的晚期卵巢癌替代方法现在是可用的。
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引用次数: 0
期刊
International Journal of Endocrine Oncology
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