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Identifying BRAF and KIT mutations in melanoma 识别黑色素瘤中的BRAF和KIT突变
Pub Date : 2013-04-01 DOI: 10.1586/EDM.12.78
M. Takata
Approximately 50% of melanomas harbor an activating mutation in codon 600 of the BRAF gene, while KIT mutations are found in 10–20% of acral and mucosal melanomas and melanomas on chronically sun-damaged skin. Because of the remarkable efficacy of oral kinase inhibitors, such as vemurafenib and imatinib, for melanomas harboring mutations in BRAF and KIT genes, molecular testing identifying mutations in these oncogenes is becoming important in patients with advanced melanoma. Since standardized mutation testing for BRAF and KIT is not currently available, the doctors should know the strengths and limitations of different testing procedures. Because of the intertumor heterogeneity of BRAF and KIT mutations, isolation and genotyping of circulating melanoma cells may provide vital information for optimal patient care.
大约50%的黑色素瘤含有BRAF基因密码子600的激活突变,而在10-20%的肢端和粘膜黑色素瘤以及长期晒伤皮肤的黑色素瘤中发现KIT突变。由于口服激酶抑制剂(如vemurafenib和伊马替尼)对BRAF和KIT基因突变的黑色素瘤的显著疗效,鉴定这些致癌基因突变的分子检测对晚期黑色素瘤患者变得越来越重要。由于目前还没有BRAF和KIT的标准化突变检测,医生应该了解不同检测方法的优势和局限性。由于BRAF和KIT突变的肿瘤间异质性,循环黑色素瘤细胞的分离和基因分型可能为优化患者护理提供重要信息。
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引用次数: 1
Diagnostic implications of loss of 5-hydroxymethylcytosine for melanoma 5-羟甲基胞嘧啶缺失对黑色素瘤的诊断意义
Pub Date : 2013-04-01 DOI: 10.1586/EDM.13.4
C. Lian, G. Murphy
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引用次数: 4
The prognostic significance of lymph node metastasis in pediatric melanoma and atypical melanocytic proliferations 小儿黑色素瘤及非典型黑色素细胞增生淋巴结转移的预后意义
Pub Date : 2013-04-01 DOI: 10.1586/EDM.13.7
Dale Han, L. Turner, D. Reed, J. Messina, V. Sondak
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引用次数: 5
The prognostic significance of BRAF mutation status in stage IIIB–C melanoma BRAF突变状态在IIIB-C期黑色素瘤中的预后意义
Pub Date : 2013-04-01 DOI: 10.1586/EDM.12.80
M. Niebling, K. Wevers, H. Hoekstra
Evaluation of: Moreau S, Saiag P, Aegerter P et al. Prognostic value of BRAF (V600) mutations in melanoma patients after resection of metastatic lymph nodes. Ann. Surg. Oncol. 19(13), 4314–4321 (2012).Recently introduced systemic agents have shown promising results in melanoma patients with distant metastases. However, the durability of the effect of these agents is still disappointing. In melanoma patients with palpable regional lymph node metastases, these new systemic drugs might induce longer efficacy as tumor load is low compared to patients with distant metastases. However, before administering these potentially toxic and still very expensive systemic drugs the selection of patients who will most probably benefit from them is important. In this key paper evaluation, the use of BRAF mutation status as a prognostic marker in stage III melanoma is discussed.
评价:Moreau S, Saiag P, aegter P等。BRAF (V600)突变在黑色素瘤患者转移性淋巴结切除后的预后价值。安。中华外科杂志19(13),4314-4321(2012)。最近引进的全身性药物在远处转移的黑色素瘤患者中显示出良好的效果。然而,这些药剂的持久效果仍然令人失望。在可触及区域淋巴结转移的黑色素瘤患者中,由于肿瘤负荷较低,与远处转移患者相比,这些新的全身药物可能会诱导更长的疗效。然而,在使用这些具有潜在毒性且仍然非常昂贵的全身药物之前,选择最有可能从中受益的患者是很重要的。在这篇关键的论文评估中,我们讨论了BRAF突变状态作为III期黑色素瘤预后标志物的使用。
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引用次数: 3
South Africa’s first time hosting The 3rd Continental Congress of the International Society of Dermatology and the 65th Annual Dermatology Meeting 南非首次主办第三届国际皮肤学会大陆大会和第65届年度皮肤病学会议
Pub Date : 2013-04-01 DOI: 10.1586/EDM.13.12
N. Dlova, A. Mosam
The 3rd Continental Congress of the International Society of DermatologyDurban, South Africa, Kwa-Zulu Natal, 24–27 October 2012The Nelson R Mandela School of Medicine (University of Kwa-Zulu Natal, Durban, South Africa), Dermatology Department, under the auspices of the Dermatology Society of South Africa, together with the International Society of Dermatology hosted the 3rd Continental Congress of the International Society of Dermatology in Durban, South Africa from 24 to 27 October 2012. The main purpose of the meeting was to provide a venue for bringing an international perspective to a regional dermatological meeting with international speakers and a broader international attendance. About 400 faculty members and delegates participated in the meetings, which had over 30 sessions. Topics of interest ranged from ethnic skin and hair, drug reactions, infections, sexually transmitted diseases and HIV dermatoses to dermatologic surgery, Botox and fillers with exciting diagnostic interactive sessions, rapi...
2012年10月24日至27日,南非德班,夸祖鲁-纳塔尔,第三届国际皮肤学会大陆会议纳尔逊·R·曼德拉医学院(夸祖鲁-纳塔尔大学,南非德班),在南非皮肤学会的赞助下,皮肤学系与国际皮肤学会共同主办了2012年10月24日至27日在南非德班举行的国际皮肤学会第三届大陆会议。会议的主要目的是提供一个场所,将国际视角带入一个有国际演讲者和更广泛的国际出席的区域皮肤病学会议。约有400名教职员工和代表参加了会议,共进行了30多次会议。感兴趣的主题从种族皮肤和头发,药物反应,感染,性传播疾病和艾滋病皮肤病到皮肤外科手术,肉毒杆菌和填充剂与令人兴奋的诊断互动会议,rapi…
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引用次数: 1
Controversies and evolving concepts in the diagnosis, classification and management of lentigo maligna 恶性黄斑的诊断、分类和治疗的争议和观念的演变
Pub Date : 2013-04-01 DOI: 10.1586/EDM.13.17
C. Shiau, J. Thompson, R. Scolyer
The diagnosis of lentigo maligna (LM) is often challenging for both clinicians and pathologists. LM is widely regarded as a form of melanoma in situ occurring in severely sun-damaged skin with characteristic clinical and pathologic features. However, compared with other forms of in situ melanoma, it often has a long-term clinical course for evolution to invasive melanoma. Some authorities advocate dividing LM into premalignant/precursor and in situ melanoma (LM in situ melanoma) phases, implying a lesser risk of the former for developing invasive melanoma. However, this subtle morphologic distinction does not necessarily correlate well with clinical outcome. An initial tissue sample for histologic diagnosis is commonly a small proportion of the lesion and may not be representative/diagnostic of LM. New clinical diagnostic tools including dermoscopy and in vivo confocal microscopy have improved the accuracy of both clinical diagnosis of LM and also defining the peripheral extent of the lesion for definitiv...
对于临床医生和病理学家来说,恶性lentigo (LM)的诊断往往具有挑战性。LM被广泛认为是一种原位黑色素瘤,发生在严重晒伤的皮肤上,具有独特的临床和病理特征。然而,与其他形式的原位黑色素瘤相比,它往往有一个长期的临床过程演变为侵袭性黑色素瘤。一些权威人士主张将LM分为癌前/前体和原位黑色素瘤(LM in situ melanoma)阶段,这意味着前者发展为侵袭性黑色素瘤的风险较低。然而,这种细微的形态差异并不一定与临床结果相关。用于组织学诊断的初始组织样本通常是病变的一小部分,可能不能代表/诊断LM。新的临床诊断工具,包括皮肤镜和体内共聚焦显微镜,提高了LM临床诊断的准确性,也确定了病变的周围范围。
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引用次数: 8
Cutaneous melanocytomas: a conceptual cluster of atypical and indolent melanocytic neoplasms 皮肤黑素细胞瘤:概念上的非典型和惰性黑素细胞肿瘤集群
Pub Date : 2013-04-01 DOI: 10.1586/EDM.13.11
G. Piérard, C. Franchimont, T. Hermanns‐Lê, P. Delvenne
In recent years, clinical dermoscopy has yielded improvement in the early disclosure of various atypical melanocytic neoplasms (AMN). Beyond this approach, histopathology of AMN remains mandatory in the establishment of their precise diagnosis and proper management. Of note, panels of expert pathologists in AMN diagnosis report only moderate agreement in a variety of puzzling cases. The risk for divergence in opinion and microscopic misdiagnosis is probably increased when histopathologic criteria are not fine-tuned and when the number of AMN entities is increasing. In addition, some of the AMN have been differently designated in the literature including atypical Spitz tumor, metastasizing Spitz tumor, borderline and intermediate melanocytic tumor, malignant Spitz nevus and pigmented epithelioid melanocytoma or animal-type melanoma. Some acronyms have been further proposed such as MELTUMP (after ‘melanocytic tumor of uncertain malignant potential’) and STUMP (after ‘Spitzoid melanocytic tumor of uncertain ...
近年来,临床皮肤镜检查在各种非典型黑色素细胞瘤(AMN)的早期发现方面取得了进展。除此之外,AMN的组织病理学在建立其精确诊断和适当管理方面仍然是强制性的。值得注意的是,病理专家小组在AMN诊断报告中,在各种令人困惑的病例中只有适度的一致。当组织病理学标准不完善和AMN实体数量增加时,意见分歧和显微镜误诊的风险可能会增加。此外,一些AMN在文献中有不同的定义,包括非典型Spitz肿瘤、转移性Spitz肿瘤、交界性和中度黑色素细胞瘤、恶性Spitz痣和色素上皮样黑色素细胞瘤或动物型黑色素瘤。一些缩写词被进一步提出,如MELTUMP(以“恶性潜能不确定的黑素细胞瘤”命名)和STUMP(以“恶性潜能不确定的Spitzoid melanocytic tumor”命名)。
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引用次数: 4
Analysis of clinical and dermoscopic features in melanocytic lesions with special emphasis on problematic lesions in children 分析黑素细胞病变的临床和皮肤镜特征,特别强调儿童的问题病变
Pub Date : 2013-04-01 DOI: 10.1586/EDM.13.9
V. Piccolo, E. Moscarella, I. Zalaudek, G. Ferrara, R. Picciocchi, O. Ametrano, G. Argenziano
Most melanocytic lesions in children are considered ‘nonproblematic’ and are managed conservatively because of their invariable benignity. Congenital melanocytic nevi (CMN) and Spitz nevi are the most problematic pigmented lesions in childhood. Regarding CMN, the biggest risk of melanoma development occurs with increased nevus size, being particularly high in giant CMN, in children younger than 10 years. On the other hand, awareness should be related to new, rapidly growing lesions (the clinical hallmark of Spitz/Reed nevi and melanoma). The aim of this review is to present clinical and dermoscopic features of a large spectrum of pediatric melanocytic lesions with special attention to problematic lesions that may occur in childhood.
大多数儿童黑素细胞病变被认为是“无问题的”,并且由于其不变的良性而被保守处理。先天性黑素细胞痣(CMN)和斯皮茨痣是儿童最成问题的色素病变。关于CMN,发生黑色素瘤的最大风险发生在痣大小的增加,特别是在10岁以下的儿童中,巨大的CMN尤其高。另一方面,对新的、快速生长的病变(Spitz/Reed痣和黑色素瘤的临床标志)的认识也应该相关。本综述的目的是提出临床和皮肤镜的特点,广泛的儿童黑素细胞病变,特别注意问题的病变,可能发生在儿童。
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引用次数: 4
Methodology and clinical utility of ultrasound-guided fine-needle aspiration cytology of lymph nodes in melanoma patients 超声引导下细针穿刺淋巴结细胞学检查黑素瘤患者的方法学及临床应用
Pub Date : 2013-04-01 DOI: 10.1586/EDM.13.16
G. Schäfer, A. Eggermont, C. Voit
Ultrasound-guided fine-needle aspiration cytology is an evolving method for quick diagnosis of the presence or absence of tumor in lymph nodes in malignant melanoma patients. New criteria for suspicion have greatly improved sensitivity and thus the clinical utility of ultrasound-guided fine-needle aspiration cytology. An earlier diagnosis of the presence of metastasis may lead to earlier surgical and systemic treatments and therefore an improvement of outcome in terms of relapse-free and even overall survival.
超声引导下细针穿刺细胞学是一种快速诊断恶性黑色素瘤患者淋巴结肿瘤存在与否的新方法。新的怀疑标准大大提高了灵敏度,从而提高了超声引导下细针穿刺细胞学的临床应用。早期诊断转移的存在可能导致早期手术和全身治疗,从而改善无复发甚至总生存期的结果。
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引用次数: 3
Melanoma: is immunotherapy the future? 黑色素瘤:免疫疗法是未来吗?
Pub Date : 2013-04-01 DOI: 10.1586/EDM.13.14
J. Weber
Interview by Jenaid Rees, Commissioning EditorJeffrey S Weber, MD, PhD, is the current Director of the Donald A Adam Comprehensive Melanoma Research Center of Excellence and is a senior member at the Moffitt Cancer Center (Tampa, FL, USA). After achieving his PhD in molecular cell biology from Rockefeller University (NY, USA) and then a medical degree from New York University Medical Center (NY, USA), Dr Weber went on to complete a residency in internal medicine for the University of California, San Diego (CA, USA) before undertaking his fellowships at the National Cancer Institute (MD, USA). His main clinical interest involves immunotherapy for melanoma and other malignancies, and he has been working in the field of melanoma therapeutics for over 20 years. In this time, he has published more than 120 articles in peer reviewed journals and has served on several scientific boards including the Melanoma Research Foundation Scientific Advisory Committee and the scientific advisory board of the Melanoma Thera...
jeffrey S Weber,医学博士,是Donald A Adam综合黑色素瘤卓越研究中心的现任主任,也是Moffitt癌症中心(Tampa, FL, USA)的高级成员。在洛克菲勒大学(美国纽约州)获得分子细胞生物学博士学位,然后在纽约大学医学中心(美国纽约州)获得医学学位后,Weber博士继续在加州大学圣地亚哥分校(美国加利福尼亚州)完成内科住院医师实习,然后在美国国家癌症研究所(MD,美国)获得奖学金。他的主要临床兴趣是黑色素瘤和其他恶性肿瘤的免疫治疗,他已经在黑色素瘤治疗领域工作了20多年。在此期间,他在同行评审期刊上发表了120多篇文章,并在多个科学委员会任职,包括黑色素瘤研究基金会科学顾问委员会和黑色素瘤治疗协会科学顾问委员会。
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引用次数: 1
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Expert Review of Dermatology
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