Malignant melanoma

恶性黑色素瘤
  • 文章类型: Case Reports
    原发性脊柱恶性黑色素瘤(PSMM)是一种罕见的中枢神经系统(CNS)癌症,而脊髓神经根的PSMM更是非同寻常。神经根的PSMM可以模拟良性神经鞘瘤的影像学表现,从而导致误诊,直到可以做出组织诊断。一名53岁的非洲裔美国妇女表现出主要累及颈部和肩部左侧的疼痛2年。颈椎的磁共振成像(MRI)显示T1-高强度,T2-低信号,均匀增强,哑铃形,硬膜内髓外肿块延伸通过左C2-3孔。使用中线切口进行C2和C3椎板切除术,从空腔中取出肿块。组织病理学特征与恶性黑色素瘤的诊断一致。本病例报告增加了现有文献中的110例PSMM和20例脊髓神经根PSMM。放射学和临床特征类似于更常见的神经鞘瘤或神经纤维瘤,需要免疫组织化学分析才能明确诊断。由于PSMM的稀有性,尚未确定PSMM的最佳治疗方法,因此重要的是报告此类病例,以分享我们的临床经验并向其他治疗这种罕见疾病的临床医生提供数据。
    Primary spinal malignant melanoma (PSMM) is a rare cancer of the central nervous system (CNS), and PSMM of the spinal nerve root is even more extraordinary. PSMM of a nerve root can mimic the radiographic appearance of benign nerve sheath tumors, thus resulting in misdiagnosis until tissue diagnosis can be made. A 53-year-old African American woman presented with pain primarily involving the left aspect of her neck and shoulder for 2 years. Magnetic resonance imaging (MRI) of the cervical spine demonstrated a T1-hyperintense, T2-hypointense, homogenously enhancing, dumbbell-shaped, intradural extramedullary mass extending out through the left C2-3 foramen. A midline incision was used to perform a C2 and C3 laminectomy, and the mass was removed from the cavity. The histopathologic profile was consistent with the diagnosis of malignant melanoma. The present case report adds to the 110 cases of PSMM and the 20 cases of PSMM of the spinal nerve root in the existing body of literature. Radiographic and clinical features resemble that of the much more common schwannoma or neurofibroma requiring immunohistochemical analysis for definitive diagnosis. The optimal treatment for PSMM has not yet been defined due to its rarity and it is therefore important to report such cases in order to share our clinical experiences and provide data to other clinicians treating this uncommon disease.
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  • 文章类型: Journal Article
    背景:虹膜结节通常被认为是1型神经纤维瘤病的临床表现,但其他眼内表现很少见。这项研究的目的是介绍一名患有Phthisic眼的患者,该患者在15年的随访后因美容原因进行了摘除,并回顾了文献中描述的14例摘除患者。
    方法:一名17岁的1型神经纤维瘤病患者因美容原因,接受了Phthisic左眼摘除术,并切除了左侧眼睑皮下肿块病变。他在童年时曾进行过四次手术以减少左侧的眼睑和眼眶质量,并且在10年前发生了视网膜完全脱离。病理上,摘除的眼睛在涉及视网膜神经元层的区域显示出大量的视网膜胶质细胞增生,S-100和胶质纤维酸性蛋白(GFAP)阳性,以及沿脉络膜的纤维化病变,相比之下,S-100和GFAP均为阴性。脉络膜,睫状体,虹膜未显示明显的神经纤维瘤,而巩膜神经纤维瘤存在。
    方法:在文献中回顾了14例患者的眼球摘除,在9例患者中,临床诊断为单侧早发性青光眼的眼病,这些患者经常表现出不同程度的面神经神经纤维瘤病,累及同侧的眼睑和眼眶。病理上,在12例患者的脉络膜中发现了不同程度的神经纤维瘤。一名患者左侧显示脉络膜恶性黑色素瘤,右侧视神经梭形扩大,怀疑视神经胶质瘤。另一名患者的phthisic眼显示出与本患者相似的大量视网膜神经胶质增生。
    结论:总结15例1型神经纤维瘤病患者,包括本患者,由于美容原因,没有视力的白眼或phithisic眼被摘除,大多数患者显示脉络膜神经纤维瘤,包括本患者在内的两名患者显示大量视网膜胶质增生。
    BACKGROUND: Iris nodules are frequently noted as clinical manifestations of neurofibromatosis type 1 but the other intraocular manifestations are rare. The purpose of this study is to present a patient with a phthisic eye who underwent enucleation for a cosmetic reason after 15-year follow-up and also to review 14 patients with enucleation described in the literature.
    METHODS: A 17-year-old man with neurofibromatosis type 1 from infancy underwent the enucleation of phthisic left eye and also had the resection of eyelid subcutaneous mass lesions on the left side for a cosmetic reason. He had undergone four-time preceding surgeries for eyelid and orbital mass reduction on the left side in childhood and had developed total retinal detachment 10 years previously. Pathologically, the enucleated eye showed massive retinal gliosis positive for both S-100 and glial fibrillary acidic protein (GFAP) in the area with involvement of the detached retinal neuronal layer, together with a more fibrotic lesion along the choroid which were, in contrast, negative for both S-100 and GFAP. The choroid, ciliary body, and iris did not show apparent neurofibroma while episcleral neurofibroma was present.
    METHODS: In review of enucleated eyes of 14 patients in the literature, buphthalmic eyes with early-onset glaucoma on the unilateral side was clinically diagnosed in 9 patients who frequently showed varying extent of hemifacial neurofibromatosis which involved the eyelid and orbit on the same side. Pathologically, neurofibromas in varying extent were found in the choroid of 12 patients. One patient showed choroidal malignant melanoma on the left side and fusiform enlargement of the optic nerve on the right side suspected of optic nerve glioma. The phthisic eye in another patient showed massive retinal gliosis similar to the present patient.
    CONCLUSIONS: In summary of the 15 patients with neurofibromatosis type 1, including the present patient, buphthalmic or phthisic eyes with no vision were enucleated for cosmetic reasons and showed choroidal neurofibroma in most patients and massive retinal gliosis in two patients including the present patient.
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  • 文章类型: Journal Article
    起源于泌尿道的黑色素瘤代表了罕见且具有临床挑战性的恶性肿瘤子集。尽管对皮肤黑色素瘤进行了广泛的研究,泌尿道黑素瘤仍然相对未被发现,提出诊断困境和有限的治疗共识。在这次全面审查中,我们综合了当前的流行病学知识,危险因素,临床表现,组织病理学特征,和这种疾病特有的治疗策略。提高临床意识,完善诊断方法,探索新的治疗干预措施有望改善这一具有挑战性的恶性肿瘤亚群的预后。
    Melanomas originating within the urinary tract represent a rare and clinically challenging subset of malignancies. Despite extensive research on cutaneous melanomas, urinary tract melanomas remain relatively unexplored, presenting diagnostic dilemmas and limited treatment consensus. In this comprehensive review, we synthesize current knowledge on the epidemiology, risk factors, clinical presentation, histopathological characteristics, and treatment strategies specific to this disease. Enhancing clinical awareness, refining diagnostic approaches, and exploring novel therapeutic interventions hold promise for improving outcomes in this challenging malignancy subset.
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  • 文章类型: Journal Article
    目的:恶性黑色素瘤是一种侵袭性癌症,流行病学明显缺乏,葡萄牙人群的临床和治疗特征。我们进行了范围审查,以确定针对葡萄牙成年恶性黑色素瘤患者的真实世界证据研究。
    方法:进行了全面检索。筛选后,我们通过设计描述了这些研究,样本量,地理,设置,人口,和报告的结果。
    结果:搜索产生了54项研究,主要为回顾性(79.6%)。评估的人群是异质性的,从一般的黑色素瘤患者到特定类型的黑色素瘤,甚至更限于有特定条件的患者。发现的证据主要与临床结果有关(n=46),患者的临床特征(n=44)和人口统计学特征(n=48)。在30项研究中描述了治疗信息,而只有18项报告了流行病学参数。研究主要由里斯本的主要肿瘤中心进行,波尔图和科英布拉,只有两个人评估了整个葡萄牙人口。为了具有可比性,仅考虑了包括皮肤恶性黑色素瘤患者的研究(54例中的13例)进行结局评估分析.中位OS从18个月到36个月不等,黑色素瘤治疗后评估。发病率是报告最多的流行病学参数,证实了多年来皮肤恶性黑色素瘤患者的数量不断增加。只有一项研究报告了患病率,四项报告了死亡率。
    结论:发现的证据证实了葡萄牙缺乏关于恶性黑色素瘤的信息,强调了现实世界研究评估黑色素瘤患病率和发病率的必要性,目前的治疗方法,以及这些患者的临床特征。
    OBJECTIVE: Malignant melanoma is an aggressive cancer, and there is a notable dearth on epidemiology, clinical and treatment characterization within the Portuguese population. We performed a scoping review to identify real-world evidence studies focused in Portuguese adult patients with malignant melanoma.
    METHODS: A comprehensive search was conducted. After screening, we described the studies by design, sample size, geographics, setting, population, and outcomes reported.
    RESULTS: The search yielded 54 studies, mainly retrospective (79.6%). The population assessed was heterogeneous varying from patients with melanoma in general to specific types of melanoma, or even more restricted to patients with specific conditions. The evidence found was mostly concerning clinical outcomes (n=46), patients\' clinical profile (n=44) and demographic characterization (n=48). Treatment information was described in 30 studies whereas only 18 reported epidemiological parameters. Studies were mainly performed by the major oncology centers in Lisbon, Oporto and Coimbra, and only two evaluated the entire Portuguese population. To allow comparability, only studies including patients with cutaneous malignant melanoma were considered (13 of the 54) for outcomes evaluation analysis. Median OS varied from 18 to 36 months, assessed after melanoma treatment. Incidence was the most reported epidemiological parameter, confirming the increasing number of cutaneous malignant melanoma patients over the years. Only one study reported prevalence and four reported mortality rates.
    CONCLUSIONS: The evidence found confirms the lack of information about malignant melanoma in Portugal, highlighting the need of real-world studies to assess melanoma prevalence and incidence rates, current treatment approaches, and clinical characterization of these patients.
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  • 文章类型: Journal Article
    本文探讨了口腔黏膜色素性病变的临床鉴别,由于其范围从良性到潜在恶性疾病,因此在牙科和医学学科中提出了重大的诊断挑战。通过文献复习和临床病例分析,这项研究澄清了当前的诊断方法,强调鉴别诊断,为临床医生提供实用指南。色素性病变的分类,例如内源性的,局灶性黑素细胞,和多灶性色素沉着,根据临床和组织学特征,强调了结构化和知情方法的必要性。对我们口腔医学和病理诊所的病例进行回顾性检查,加上照片和组织学记录的分析,有助于对这些病变进行分类。这促进了更好的理解,并促进了临床医生之间的知情讨论,最终旨在加强早期和精确的诊断,从而改善患者管理和结果。
    This paper examines the clinical differentiation of pigmented lesions in the oral mucosa, which poses significant diagnostic challenges across dental and medical disciplines due to their spectrum from benign to potentially malignant conditions. Through a literature review and analysis of clinical cases, this study clarifies current diagnostic methodologies, with an emphasis on differential diagnosis, to provide a practical guide for clinicians. The classification of pigmented lesions, such as endogenous, focal melanocytic, and multifocal pigmentation, based on clinical and histological features, highlights the necessity for a structured and informed approach. A retrospective examination of cases from our oral medicine and pathology clinic, coupled with analysis of photographic and histological records, aids in classifying these lesions. This fosters a better understanding and promotes informed discussions among clinicians, ultimately aiming to enhance early and precise diagnosis, thus improving patient management and outcomes.
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  • 文章类型: Case Reports
    腮腺恶性黑色素瘤是头颈部罕见的肿瘤,据报道,大多数腮腺黑色素瘤是皮肤恶性黑色素瘤的转移灶。我们报告了在腮腺导管中出现的原发性恶性黑色素瘤的诊断挑战。患者是一名68岁的男性,他抱怨3个月前反复出现右侧面部肿胀。沿着脸颊的Stensen导管检测到肿胀,吸入棕色的唾液样液体。在MR和CT图像上,在腮腺实质中发现了一个充满液体的导管,该导管具有小结节和不均匀增强的肿块。导管壁上的结节状肿块迅速生长,高强度T1信号在随访图像上变得显著。通过活检和腮腺切除术标本进行组织病理学检查的最终诊断显示,病变为导管恶性黑色素瘤和实质多形性腺瘤。即使在腮腺发生的肿瘤中原发性恶性黑色素瘤的发病率非常低,使用影像学特征支持早期诊断的努力很重要.
    Malignant melanoma of the parotid gland is an unusual tumor in the head and neck region, and most parotid melanoma is reported as a metastatic lesion of cutaneous malignant melanoma. We report a case of primary malignant melanoma arising in the parotid gland duct with diagnostic challenge. The patient was a 68-year-old man who complained of repeated right facial swelling that presented 3 months prior. Swelling was detected along the Stensen\'s duct of the cheek, and brown-colored saliva-like fluid was aspirated. On MR and CT images, a fluid-filled duct with small nodule and heterogeneously enhancing mass in the parotid parenchyma was detected. The nodular mass on the ductal wall grew rapidly, and the hyperintense T1 signal became significant on follow-up images. The final diagnosis via histopathologic examination using biopsy and parotidectomy specimen revealed the lesion as malignant melanoma of the duct and pleomorphic adenoma of the parenchyma. Even if the incidence of primary malignant melanoma is very low among tumors occurring in the parotid gland, efforts supporting an early diagnosis using imaging characteristics are important.
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  • 文章类型: Journal Article
    免疫激活性抗CTLA4和抗PD1单克隆抗体(单独或联合使用)正在用于治疗晚期黑色素瘤患者,并可导致持久的缓解,50-60%的患者可获得长期总生存率。尽管颅内转移在黑色素瘤中非常常见(约占所有晚期疾病患者的50-75%),大多数关键的前瞻性临床试验排除了颅内转移患者,当然,如果他们的病变是有症状的和需要类固醇的,并且颅内黑色素瘤对免疫疗法的敏感性程度仍然不确定,需要进一步研究,特别是考虑到RAF-MEK抑制剂在这种临床环境中的可证明活性和立体定向放疗的出现.我们的研究旨在评估免疫治疗对晚期黑色素瘤脑转移患者的疗效和毒性。在比较研究方面,只能进行回顾性分析.基于3项回顾性研究,与单纯支持治疗(无活性抗癌治疗)相比,采用免疫治疗方法治疗黑色素瘤脑转移患者的总生存率显著提高.在总生存期方面,靶向治疗的疗效似乎与免疫治疗相当。基于少数患者。与单纯放疗相比,脑同步放疗和全身免疫疗法的结合提高了总生存率。表明这些方法之间潜在的协同作用,和联合治疗可以安全地交付。我们的评论支持对这些患者使用免疫治疗策略,尽管对于有症状的病变,治疗效果似乎较低。鉴于立体定向放射治疗方法在大脑中的极高疗效,了解放疗和免疫治疗之间的相互作用是至关重要的,应该是一个积极研究的领域。
    Immune-activating anti-CTLA4 and anti-PD1 monoclonal antibodies (alone or in combination) are being used to treat advanced melanoma patients and can lead to durable remissions, and long-term overall survival may be achieved in between 50-60% of patients. Although intracranial metastases are very common in melanoma (about 50-75% of all patients with advanced disease), most of the pivotal prospective clinical trials exclude patients with intra-cranial metastases, certainly if their lesions are symptomatic and steroid-requiring and the degree of sensitivity of intra-cranial melanoma to immunotherapy remains uncertain, and requires further investigation especially in view of the demonstrable activity of RAF-MEK inhibitors in this clinical setting and the emergence of stereotactic radiotherapy. Our study aimed to evaluate the efficacy and toxicity of immunotherapy against advanced melanoma patients with brain metastases. In terms of comparative studies, only retrospective analyses could be identified. Based on 3 retrospective studies, treatment of patients with melanoma brain metastases with immunotherapeutic approaches improves overall survival substantially compared with supportive measures alone (no active anticancer treatment). The efficacy of targeted therapy appeared to be comparable to that of immune therapy in terms of overall survival, based on a small number of patients. The combination of concurrent radiation therapy to the brain and systemic immunotherapy led to improved overall survival compared to radiotherapy alone, suggesting potential synergism between the approaches, and combination treatment could be delivered safely. Our review supports the use of immunotherapeutic strategies for these patients although treatment efficacy appears to be lower for symptomatic lesions. In view of the extremely high efficacy of stereotactic radiotherapy approaches in the brain, understanding the interaction between radiotherapy and immunotherapy is vital and should be an area of active investigation.
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  • 文章类型: Journal Article
    目的:口腔恶性黑色素瘤(OMM)是由黑素细胞增殖引起的一种罕见且侵袭性的恶性肿瘤,仅占所有口腔恶性肿瘤的0.5%。它是侵入性的并且倾向于转移。这项研究的目的是确定OMM的患者概况,并提供有关该疾病的临床特征和治疗计划的信息。
    方法:在Pubmed数据库中搜索最近10年作为病例报告发表的OMM病例。搜索仅限于英语和开放获取的病例报告。对43例病例报告中45例患者的49例OMM进行分析。除了年龄,性别,患者的吸烟和饮酒习惯,关于OMM的症状和体征的数据,病变的位置,用于诊断和治疗的成像模式,淋巴结受累,转移的存在,生存时间,并记录治疗方式。
    结果:在OMM病例中,18(40%)的患者是女性,27(60%)为男性,平均年龄为53.13±16.09岁。最常见的症状是“肿胀”(n=23,33.8%),最常见的症状是“色素沉着”(n=40,24.4%)。OMM的最常见部位是上颌骨(n=21,占46.7%)。根据病例中成像方式的使用率,确定主要使用“高级成像方式”(n=24,53.3%).确定22.2%(n=10)的患者在前5年内死亡。综合治疗(n=21,46.5%)主要应用于患者。
    结论:OMM在上颌骨更为常见,在男性和生命的第五个十年中,和先进的成像方式最常用于检测疾病。由于其预后不良,了解OMM的患者概况和常见临床特征将提高医生的临床意识。
    OBJECTIVE: Oral malignant melanoma (OMM) is a rare and aggressive malignant tumour arising from the proliferation of melanocytes and accounts for only 0.5 % of all oral malignancies. It is invasive and tends to metastasise. The aim of this study is to determine the patient profile of OMM and to provide information about the clinical features and treatment plans of the disease.
    METHODS: The Pubmed database was searched for OMM cases published as case reports in the last 10 years. The search was limited to English and open-access case reports. A total of 49 OMMs in 45 patients from 43 case reports were analyzed. In addition to the age, gender, smoking and alcohol consumption habits of the patients, data on the signs and symptoms of OMM, location of the lesion, imaging modalities used in diagnosis and treatment, lymph node involvement, presence of metastasis, survival time, and treatment modalities were recorded.
    RESULTS: In OMM cases, 18 (40 %) of the patients were female, 27 (60 %) were male, and the mean age was 53.13 ± 16.09 years. The most common symptom was \"swelling\" (n = 23, 33.8 %) and the most common finding was \"hyperpigmentation\" (n = 40, 24.4 %). The most common site of OMM was the maxilla (n = 21, 46.7 %). According to the rate of use of imaging modalities in the cases, it was determined that \"advanced imaging modalities\" were mostly used (n = 24, 53.3 %). It was determined that 22.2 % (n = 10) of the patients died within the first 5 years. Combined treatment (n = 21, 46.5 %) were mostly applied to the patients.
    CONCLUSIONS: OMM is more common in the maxilla, in males and in the fifth decade of life, and advanced imaging modalities are most commonly used to detect the disease. Because of its poor prognosis, knowing the patient profile and common clinical features of OMM will increase the clinical awareness of physicians.
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  • 文章类型: Journal Article
    目的:调节免疫稳态和肠道菌群的药物可能会影响免疫检查点抑制剂(ICIs)的疗效。这项研究旨在调查在韩国接受ICI治疗的癌症患者的临床结果的同时药物治疗的影响。
    方法:我们确定了新接受ICI治疗的非小细胞肺癌(NSCLC)患者,尿路上皮癌(UC),2017年8月至2020年6月期间来自韩国全国数据库的恶性黑色素瘤(MM)。并发抗生素(ATB)的效果,皮质类固醇(CSs),质子泵抑制剂(PPI),和阿片类药物在ICI开始前30天内的治疗持续时间和生存率进行评估.
    结果:总而言之,8870例患者被纳入ICI队列(NSCLC,7,128;UC,960;MM,782).患者服用ATB(33.8%),CSs(47.8%),PPI(28.5%),和阿片类药物(53.1%)在基线。NSCLC的中位总生存期为11.1、12.2和22.1个月,UC,和MM子组,分别,因为ICI主要作为二线(NSCLC和UC)和一线(MM)治疗开始。在34.2%的患者中观察到早期进展。阿片类药物和CS与所有癌症类型的低生存率密切相关。大量的并发药物与早期进展和短生存期相关。在所有接受ICIs治疗的患者中,阿片类药物和CS的使用与不良预后相关。然而,ATB和PPI对生存有癌症特异性影响。
    结论:大量同时用药与不良临床结局相关。
    OBJECTIVE: Medications regulating immune homeostasis and gut microbiota could affect the efficacy of immune checkpoint inhibitors (ICIs). This study aimed to investigate the impact of concurrent medications on the clinical outcomes of patients with cancer receiving ICI therapy in South Korea.
    METHODS: We identified patients newly treated with ICI for non-small cell lung cancer (NSCLC), urothelial carcinoma (UC), and malignant melanoma (MM) between August 2017 and June 2020 from a nationwide database in Korea. The effect of concurrent antibiotics (ATBs), corticosteroids (CSs), proton-pump inhibitors (PPIs), and opioids prescribed within 30 days before ICI initiation on the treatment duration and survival was assessed.
    RESULTS: In all, 8870 patients were included in the ICI cohort (NSCLC, 7,128; UC, 960; MM, 782). The patients were prescribed ATBs (33.8%), CSs (47.8%), PPIs (28.5%), and opioids (53.1%) at the baseline. The median overall survival durations were 11.1, 12.2, and 22.1 months in NSCLC, UC, and MM subgroups, respectively, since starting the ICI mostly as second-line (NSCLC and UC) and first-line (MM) therapy. Early progression was observed in 34.2% of the patients. Opioids and CS were strongly associated with poor survival across all cancer types. A high number of concurrent medications was associated with early progression and short survival. Opioid and CS use was associated with poor prognosis in all patients treated with ICIs. However, ATBs and PPIs had a cancer-specific effect on survival.
    CONCLUSIONS: A high number of concurrent medications was associated with poor clinical outcomes.
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  • 文章类型: Journal Article
    腮腺原发性黑色素瘤是一种极其罕见且具有挑战性的肿瘤,预后不良,其超声特性尚未见报道。本文介绍了一例77岁的男性,其左腮腺肿块在手术后被证实为黑色素瘤。详细检查了黑色素瘤的超声特征,特别关注它们的诊断价值。此外,我们总结了临床特点,治疗方案,基于对现有文献的全面分析,以及与腮腺原发性黑色素瘤相关的结局。
    Primary melanoma of the parotid gland is an extremely rare and challenging tumor with a poor prognosis, and its ultrasonic characteristics have yet to be reported. This article presents a case of a 77-year-old man with a left parotid mass that was confirmed as a melanoma following surgery. The ultrasonic features of melanoma were examined in detail, with a particular focus on their diagnostic value. Furthermore, we summarized the clinical characteristics, treatment options, and outcomes associated with primary melanoma of the parotid gland based on a thorough analysis of the available literature.
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