blue nevus

  • 文章类型: Journal Article
    背景:色素性蓝色病变中的聚集和/或satellitosis是文献中很少提及的现象,也不是众所周知的。这种现象可以表现为几种良性和恶性色素性蓝色病变,如蓝色痣,SpitzNevi,黑色素细胞瘤和黑色素瘤。在这个光谱上,皮肤镜,反射共聚焦显微镜(RCM)和动态光学相干断层扫描(D-OCT)代表非侵入性成像技术,这可能有助于临床医生在日常临床实践中诊断黑色素瘤和非黑色素瘤皮肤癌。方法:目前,在文献中,缺乏新的数据,有关急性蓝色病变和蓝色病变与satellitosis,以及缺乏有关该主题的最新文献综述。因此,考虑到临床医生必须对这些罕见皮肤病变的诊断充满信心,我们决定进行这项工作。结果:本文,描述了4例新出现的色素沉着皮肤病变。此外,我们对有关这一主题的现有文献进行了综述.结论:通常需要临床病理相关性才能达到正确的诊断;目前,皮肤镜检查和非侵入性诊断技术,如反射共聚焦显微镜和光学相干断层扫描,由于这些皮肤损伤在真皮中的深度,只能做出部分和有限的贡献。
    Background: Agmination and/or satellitosis in pigmented blue lesions is a phenomenon rarely mentioned in the literature and not well known. This phenomenon can be expressed by several benign and malignant pigmented blue lesions, such as blue nevi, Spitz nevi, melanocytoma and melanoma. On this spectrum, dermoscopy, reflectance confocal microscopy (RCM) and dynamic Optical coherence tomography (D-OCT) represent non-invasive imaging technologies, which may help clinicians in the diagnosis of melanoma and non-melanoma skin cancers in daily clinical practice. Methods: Currently, in the literature there is a lack of new data about agminated blue lesions and blues lesions with satellitosis, as well as the lack of a recent and updated review of the literature about this topic. Therefore, considering that clinicians must be confident with the diagnosis of these rare skin lesions, we decided to carry out this work. Results: In this paper, four new cases of agminated pigmented cutaneous lesions were described. Moreover, a review of the current literature on this topic was performed. Conclusions: A clinical-pathological correlation is often needed to reach a correct diagnosis; currently, dermoscopy and non-invasive diagnostic techniques, such as reflectance confocal microscopy and optical coherence tomography, due to the depth of these skin lesions in the dermis, can only make a partial and limited contribution.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    已在多种肿瘤中鉴定了涉及蛋白激酶C(PKC)同源物的融合基因。我们报告了51例具有PKC融合基因的皮肤黑素细胞肿瘤的临床和组织学表现(35例涉及PRKCA,PRKCB15例,和PRKCG在一个案例中)。大多数肿瘤在年轻人中(中位年龄29.5;范围1-73),但有些出现在新生儿身上。组织学上,42个肿瘤被归类为良性,主要表现为双相真皮增殖(88%),小黑素细胞被纤维化包围,随意排列的梭状和树突状黑素细胞,类似于那些报道为“组合蓝色痣”的人。“大多数肿瘤(60%)有严重的色素沉着,在15%中,真皮-表皮交界处存在色素沉着的上皮样黑素细胞。两个病变是无细胞的,并显示出明显的硬化。三个肿瘤,包括两个增生结节,被认为是中级。六个肿瘤的非典型黑素细胞浸润真皮,被归类为黑色素瘤。两个黑素瘤显示BAP1核表达丧失。中位随访时间为12个月,1例转移性疾病患者,1例死于黑色素瘤。这些结果表明,具有PKC融合基因的黑素细胞肿瘤具有特征性的组织病理学特征,比色素上皮样黑色素细胞瘤更类似于蓝痣。就像GNA突变的蓝痣一样,它们可以通过BAP1失活和转移进展为黑色素瘤。
    Fusion genes involving homologs of protein kinase C (PKC) have been identified in a variety of tumors. We report the clinical and histologic presentation of 51 cutaneous melanocytic neoplasms with a PKC fusion gene (involving PRKCA in 35 cases, PRKCB in 15 cases, and PRKCG in a single case). Most tumors were in young adults (median age, 29.5 years; range, 1-73 years) but some presented in newborns. Histologically, 42 tumors were classified as benign, presenting predominantly as biphasic dermal proliferation (88%) with nests of small melanocytes surrounded by fibrosis with haphazardly arranged spindled and dendritic melanocytes, resembling those reported as \"combined blue nevi.\" Most tumors (60%) were heavily pigmented and in 15%, hyperpigmented epithelioid melanocytes were present at the dermoepidermal junction. Two lesions were paucicellular and showed marked sclerosis. Three tumors, including 2 proliferating nodules, were considered intermediate grade. Six tumors had sheets of atypical melanocytes infiltrating the dermis and were classified as melanomas. Two of the melanomas displayed loss of BAP1 nuclear expression. The median follow-up time was 12 months, with 1 patient alive with metastatic disease and 1 dying of their melanoma. These results suggest that melanocytic tumors with PKC fusion genes have characteristic histopathologic features, which are more similar to blue nevi than to pigmented epithelioid melanocytomas. As is the case with GNA-mutated blue nevi, they can progress to melanomas via BAP1 inactivation and metastasize.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    GNAQ中的激活突变,GNA11,CYSLTR2和PLCB4基因被认为是蓝痣(BN)和蓝色恶性黑素细胞肿瘤的主要致癌驱动因素。在这里,我们报告了四例没有这些突变但具有GRM1基因融合的蓝色黑素细胞肿瘤。在这个简短的系列中,没有性别优势(性别比=1)。诊断时的平均年龄为40岁(范围:12-72)。肿瘤位于面部(n=2),前臂(n=1)和足背(n=1)。临床上,在2例中发现了斑块状的预先存在的蓝痣,包括一个很深的位置;另一个案例是太田痣。两例被诊断为黑色素瘤前蓝痣,一个是非典型的BN,一个是斑块状的BN。显微镜检查显示硬化基质中树突状黑素细胞的真皮增殖。在3例中观察到具有异型性和有丝分裂活性的真皮细胞结节。通过全外显子组RNA测序进行的遗传调查显示MYO10::GRM1(n=2)和ZEB2::GRM1(n=1)融合。在其余病例中通过FISH鉴定了GRM1重排。SF3B1共突变存在于两个黑色素瘤中,两者都有MYO10::GRM1融合。Array-CGH在3例病例中是可行的,并且在两个黑色素瘤中显示出多个拷贝数改变(CNAs),在非典型BN中显示出有限的CNAs,所有基因组谱与经典蓝色病变的基因组谱相容。与具有其他典型突变的蓝色病变的对照组相比,GRM1在所有病例中均过表达。两种黑色素瘤在诊断后迅速发展为内脏转移,一个病例的结果是致命的,另一个病例是姑息治疗下的肿瘤进展。这些数据表明,GRM1基因融合可能代表蓝痣背景下的另一个罕见致癌驱动因素,经典经典突变的相互排斥,尤其是斑块型或Ota亚型。
    Activating mutations in GNAQ, GNA11, CYSLTR2, and PLCB4 genes are regarded as the main oncogenic drivers of blue nevi (BN) and blue malignant melanocytic tumors. Here we report 4 cases of blue melanocytic neoplasms devoid of these mutations but harboring GRM1 gene fusions. In this short series, there was no gender predominance (sex ratio, 1). The mean age at diagnosis was 40 years (range, 12-72). Tumors were located on the face (n = 2), forearm (n = 1), and dorsum of the foot (n = 1). Clinically, a plaque-like pre-existing BN was found in 2 cases, including a deep location; another case presented as an Ota nevus. Two cases were diagnosed as melanoma ex-BN, one as an atypical BN, and one as a plaque-like BN. Microscopic examination revealed a dermal proliferation of dendritic melanocytes in a sclerotic stroma. A dermal cellular nodule with atypia and mitotic activity was observed in 3 cases. Genetic investigation by whole exome RNA sequencing revealed MYO10::GRM1 (n = 2) and ZEB2::GRM1 (n = 1) fusions. A GRM1 rearrangement was identified by fluorescence in situ hybridization in the remaining case. SF3B1 comutations were present in the 2 melanomas, and both had a MYO10::GRM1 fusion. Array comparative genomic hybridization was feasible for 3 cases and displayed multiple copy number alterations in the 2 melanomas and limited copy number alterations in the atypical BN, all genomic profiles compatible with those of classical blue lesions. GRM1 was overexpressed in all cases compared with a control group of blue lesions with other typical mutations. Both melanomas rapidly developed visceral metastases following diagnosis, with a fatal outcome in one case and tumor progression under palliative care in the other. These data suggest that GRM1 gene fusions could represent an additional rare oncogenic driver in the setting of BN, mutually exclusive of classical canonical mutations, especially in plaque-type or Ota subtypes.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Case Reports
    蓝色痣,其特征是真皮中产生色素的黑素细胞的集合,具有多种临床病理特征。斑块型蓝痣(PTBN)是蓝痣的一种变体。PTBN在出生时出现或在儿童早期出现,它显示了在普通蓝痣和细胞蓝痣中发现的特征的组合。它通常出现在手和脚的背侧表面或头部和颈部,随着时间的推移,它通常是良性和稳定的。然而,偶尔有报道描述了在PTBN中发展或与PTBN相关的恶性黑色素瘤。恶性蓝痣最常见于头皮。我们报告了一名88岁女性,患有与脸颊PTBN相关的恶性黑色素瘤。
    Blue nevi, which are characterized by collections of pigment-producing melanocytes in the dermis, have a variety of clinicopathological characteristics. Plaque-type blue nevus (PTBN) is a variant of blue nevi. PTBN presents at birth or arises in early childhood, and it shows a combination of the features found in common blue nevus and cellular blue nevus. It is typically found on the dorsal surface of the hands and feet or on the head and neck, and it is usually benign and stable over time. However, reports have occasionally described malignant melanomas developing in or associated with a PTBN. Malignant blue nevi are most commonly found on the scalp. We report the case of an 88-year-old woman with a malignant melanoma associated with a PTBN of the cheek.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    一个3岁的男孩在他的脸的左侧出现了蓝色斑点和分散的蓝色斑点。经过几次激光治疗,眶周区域的azury斑块变得更暗。组织病理学显示许多躁郁症,负载色素的树突状细胞散布在乳头状和上网状真皮中。免疫组织化学,这些细胞对S100,SOX-10,melan-A,P16和HMB-45。Ki-67阳性率小于5%。最后,病变被诊断为太田痣并伴有普通蓝色痣。因此,对于激光治疗反应不佳的太田痣,应该怀疑可能共存的疾病。
    A 3-year-old boy presented with bluish patch and scattered blue spots on the left side of his face. After several sessions of laser treatment, the azury patch in the periorbital area became even darker. Histopathology showed many bipolar, pigment-laden dendritic cells scattered in the papillary and upper reticular dermis. Immunohistochemically, these cells were positive for S100, SOX-10, melan-A, P16, and HMB-45. The positive rate of Ki-67 was less than 5%. Finally, the lesion was diagnosed with nevus of Ota concurrent with common blue nevus. Therefore, for cases of the nevus of Ota with poor response to laser treatment, the possible coexisting diseases should be suspected.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    未经证实:获得性黑素细胞痣是常见的眼睑病变;然而,他们的临床表现没有很好的记录.
    未经评估:在这项回顾性研究中,我们回顾了2005年至2022年间评估的患者的临床记录.
    未经证实:眼睑边缘痣(n=150)更常见于女性(78%)和高加索(86%)患者。外观/尺寸的变化经常提出投诉,17%的人出现眼部症状。参考诊断包括其他良性病变(11.3%),并关注恶性肿瘤(16.7%)。许多人(38.7%)注意到他们的病变≤5年。Nevi分布在4个边缘(9%点状),88%有固定基数。非白种人(95.2%)比白种人(41.1%)更常见可见的色素沉着。睫毛增长了60.7%的痣,并且经常被误导。痣采用浅层切除和烧灼治疗。组织学亚型包括:真皮(86.6%),化合物(9.4%),蓝色(2.7%),交界处(0.7%),浅色发育不良(0.7%)。与真皮痣相比,复方中不规则的基部(p=0.042)和色素沉着(p=0.056)更常见。多数回访患者的睫毛线质量和外观均得到改善,虽然术后倒车灯,边缘红斑,观察到残留的色素沉着。
    UNASSIGNED:黑素细胞痣通常累及眼睑边缘,并具有多种表现和外观。现有的痣可以改变,新的病变出现在整个成年期。稳定,可以观察到良性出现痣。剃须切除术可为有症状或可疑病变提供诊断和改善外观,很少有严重的并发症。恶性转化是罕见的,虽然复发的证据值得进一步评估。
    UNASSIGNED: Acquired melanocytic nevi are common eyelid lesions; however, their clinical presentation is not well documented.
    UNASSIGNED: In this retrospective study, clinical records were reviewed in patients evaluated between 2005 and 2022.
    UNASSIGNED: Eyelid margin nevi (n = 150) were more commonly excised in female (78%) and Caucasian (86%) patients. Change in appearance/size were frequent presenting complaints, and 17% experienced ocular symptoms. Referring diagnosis included other benign lesions (11.3%), and concern for malignancy (16.7%). Many individuals (38.7%) noted their lesion for ≤5 years. Nevi were distributed across the 4 margins (9% peripunctal), and 88% had a regular base. Visible pigmentation was more common in non-Caucasians (95.2%) than Caucasians (41.1%). Lashes grew through 60.7% of nevi and were often misdirected.Nevi were treated with superficial excision and cauterization. Histologic subtypes included: dermal (86.6%), compound (9.4%), blue (2.7%), junctional (0.7%), lentiginous dysplastic (0.7%). An irregular base (p=0.042) and pigmentation (p=0.056) were more common in compound than dermal nevi. Lash line quality and appearance were improved in the majority of patients returning for follow-up, although postoperative trichiasis, marginal erythema, and residual pigmentation were observed.
    UNASSIGNED: Melanocytic nevi commonly involve the eyelid margins and have a variety of presentations and appearances. Existing nevi can change, and new lesions appear throughout adulthood. Stable, benign appearing nevi can be observed. Shave excision provides a diagnosis and improved appearance for symptomatic or suspicious lesions, with few serious complications. Malignant transformation is rare, although evidence for recurrence warrants further evaluation.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    UNASSIGNED:蓝痣是一组异质性病变,可以显示出多种不同的临床病理特征。尽管尝试将每个病变分类为定义的亚型,亚型之间可能有重叠。临床,讨论了在蓝痣中出现的增生性结节的皮肤镜和组织病理学特征。运行标题:蓝痣是一组异质的黑色素细胞病变的蓝色着色特性。增生性结节是一种罕见的良性病变,通常在出生时出现,是巨大的先天性黑素细胞痣的组成部分。先天性或获得性痣。我们首先报告了一例在蓝痣中出现的增生性结节。
    UNASSIGNED: Blue nevi are a heterogeneous group of lesions that can display a variety of different clinicopathological characteristics. Although attempts are made to classify each lesion into defined subtypes, there can be overlap between the subtypes. The clinical , dermoscopic and histolopathologic features of a case of proliferative nodule arising within blue nevus is discussed. Running title: Blue nevi are an heterogeneous group of melanocytic lesions blue tinctorial properties. Proliferative nodules are rare benign lesions often present at birth as a component of a large congenital melanocytic nevi, congenital or acquired nevi. We first report a case of proliferative nodule arising within blue nevus.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:关于病变和患者相关变量与蓝痣的皮肤镜特征之间的相关性知之甚少。该研究的目的是对与患者和病变相关变量相关的蓝痣进行皮肤镜分析。对以前没有报道过患病率的结构特别感兴趣。方法:这是一个双中心,回顾性研究,其中包括组织病理学证实的蓝痣的分析(n=93)。结果:根据患者的性别和年龄,观察到的皮肤镜特征的频率没有差异。粉红色的无结构区域在I/IIFitzpatrick皮肤光型患者以及光损伤皮肤患者中更为常见,而棕色/蓝灰色背景上的蓝色突出皮肤标记仅出现在光型III患者中。以前未报告的蓝痣患病率的结构是肤色圆圈(以32.3%存在),灰色圆圈(2.2%),无色素沉着的卵泡口(18.4%;仅存在于面部),棕色背景上的蓝色皮肤标记(18.2%;仅在四肢上检测到)和深棕色多边形(一个病变位于下肢)。结论:皮肤镜下蓝痣的表现可能因患者的光型和病变大小/位置而有所不同,而不是性别和年龄。
    Background: Little is known about the correlation between lesion- and patient-related variables and the dermoscopic features of blue nevi. The aim of the study was dermoscopic analysis of blue nevi in association with patient- and lesion-related variables, with a special interest in structures whose prevalence has not been previously reported. Methods: This was a double-center, retrospective study, which included the analysis of histopathologically confirmed blue nevi (n = 93). Results: There was no difference in the frequency of the observed dermoscopic features according to patients\' gender and age. Pink structureless areas were more common in patients with I/II Fitzpatrick skin phototypes as well as in the patients with photodamaged skin, while blue prominent skin markings over brownish/blue-gray background occurred exclusively in patients with phototype III. Structures of previously unreported prevalence in blue nevi were skin-colored circles (present in 32.3%), gray circles (2.2%), follicular ostia with no pigmentation (18.4%; present exclusively on the face), blue skin markings over brownish background (present in 18.2%; detected only on the limbs) and dark brown polygons (one lesion located on the lower extremity). Conclusion: Dermoscopic presentation of blue nevi may vary according to the patient\'s phototype and lesion size/localization rather than gender and age.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Case Reports
    葡萄膜黑色素瘤(UM)和结膜黑色素瘤(CM)是具有不同病因和遗传背景的不同实体。我们介绍了一例由蓝色痣引起的非典型结膜下黑色素瘤。
    一名61岁的女性,表现为部分黑素细胞性上球肿块,周围有巩膜上色素斑点。病变与上覆的结膜分离,没有眼内成分。切除活检显示主要为上皮样黑色素瘤,这被认为是转移的,尽管其他地方没有原发性黑色素瘤的证据。
    分子分析确定了GNAQ和BAP1致病变体,这强烈表明诊断为由巩膜上蓝痣引起的原发性球团黑色素瘤。
    此病例证明了使用下一代测序(NGS)进行肿瘤分子分析以区分异常定位的眼部黑色素瘤的起源的价值。
    Uveal melanoma (UM) and conjunctival melanoma (CM) are distinct entities with different etiologies and genetic background. We present a case of an atypical subconjunctival melanoma arising from a blue nevus.
    A 61-year-old female presented with a partially melanocytic epibulbar mass with surrounding episcleral pigmented spots. The lesion was detached from the overlying conjunctiva without an intraocular component. Excisional biopsy revealed a predominantly epithelioid melanoma, that was suggested to be metastasic, although there was no evidence of a primary melanoma elsewhere.
    Molecular analysis identified GNAQ and BAP1 pathogenic variants, which strongly suggested the diagnosis as a primary epibulbar melanoma arising from episcleral blue nevus.
    This case demonstrates the value of tumor molecular analysis using Next Generation Sequencing (NGS) for differentiating the origin of an unusually located ocular melanoma.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    蓝痣是人体皮肤或粘膜中一种罕见的良性色素性病变,以色素树突状黑素细胞和纺锤状黑素细胞为特征。鼻窦蓝痣极为罕见。我们报道了一个以垂体腺瘤为背景的鼻窦蓝色痣病例,2型糖尿病,和高血压(包括内窥镜和组织学照片)。Further,综述了有关蓝痣的现有文献。本文对蓝痣与内分泌系统紊乱的潜在相关性进行了研究,为进一步的实验研究提供了支持。
    Blue nevus is a type of uncommon benign pigmented lesion in the skin or the mucosa of human body which is featured by pigmented dendritic melanocytes and spindled melanocytic cells. Sinonasal blue nevus is extremely rare. We reported a sinonasal blue nevus case with the background of pituitary adenoma, type 2 diabetes mellitus, and hypertension (including endoscopic and histological pictures). Further, the existing literature about blue nevus is reviewed. This paper puts a spotlight on the potential correlation between blue nevus with the endocrine system disorder and provides support for further experimental research.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

公众号