Malignant melanoma

恶性黑色素瘤
  • 文章类型: Case Reports
    恶性黑色素瘤的肾上腺转移是一种常见但特征不佳的疾病。它们缺乏一致的临床特征和对免疫检查点抑制剂的不良反应对从业人员构成了重大的诊断和治疗挑战。该病例报告描述了一名78岁的男性,没有黑色素瘤病史,表现出非特异性腹部症状和无意的体重减轻,被发现患有恶性黑色素瘤未分化的双侧肾上腺转移。尽管正在进行调查,肾上腺转移瘤的原发部位未知,提示考虑原发性肾上腺黑色素瘤作为诊断。患者接受了四个周期的免疫检查点抑制剂治疗,nivolumab和ipilimumab,然后是维持治疗和随后的肾上腺转移切除术。尽管进行了治疗努力,患者的肿瘤对治疗有抵抗力,并且未分化。病人继续接受姑息治疗直到他去世,症状出现后三年多。临床特征,病理生理学,诊断,治疗,并详细讨论了该患者疾病的预后,以帮助指导类似病例的治疗。
    Adrenal gland metastases from malignant melanoma are a common but poorly characterised condition. Their lack of consistent clinical features and poor response to immune checkpoint inhibitors pose a significant diagnostic and therapeutic challenge to practitioners. This case report describes a 78-year-old male with no prior history of melanoma presenting with nonspecific abdominal symptoms and unintentional weight loss who was found to have undifferentiated bilateral adrenal gland metastases from malignant melanoma. Despite ongoing investigations, the primary site of the adrenal gland metastases remained unknown, prompting the consideration of primary adrenal melanoma as a diagnosis. The patient underwent four cycles of treatment with immune checkpoint inhibitors, nivolumab and ipilimumab, followed by maintenance therapy and subsequent adrenal metastasectomy. Despite therapeutic efforts, the patient\'s tumour was resistant to treatment and became undifferentiated. The patient continued with palliative care until his death, more than three years after the onset of symptoms. The clinical features, pathophysiology, diagnosis, treatment, and prognosis of this patient\'s disease are discussed in detail to help inform the management of similar cases.
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  • 文章类型: Case Reports
    背景:眼睛很少发生皮肤恶性黑色素瘤,通常在眼睑或结膜。结膜恶性黑素瘤更为罕见。大多数黑素瘤是深色的,因为它们是色素沉着的。然而,无色素性结膜恶性黑色素瘤,一种罕见的癌症变体,很难准确诊断。
    方法:我们介绍了两例白人白人瑞典裔女性,她们被诊断为眼睛结膜单侧无色素性恶性黑色素瘤。在第一种情况下,病人是一名81岁的女性,左眼有红肿和异物感。最初的诊断是眼睑炎。进行了三次活检,表现为眼睑和结膜的恶性黑色素瘤。不幸的是,眼睛和轨道的其余部分无法保存,患者不得不接受眼眶切除术。在第二种情况下,病人是个50岁的女人,肿瘤位于左眼颞结膜。最初的诊断是pinguecula,但在手术的时候,医生怀疑结膜上皮内瘤变。肿瘤没有完全切除,所以使用了辅助近距离放射治疗和局部化疗。眼睛被保存下来。在诊断时均未检测到颈部和/或肺转移。
    结论:当眼和/或眼睑存在肿瘤时,应怀疑结膜无色素性恶性黑色素瘤。通过怀疑无色素性恶性黑色素瘤,治疗的延迟可以缩短。尽快治疗它们对于将转移风险降至最低至关重要。
    BACKGROUND: Cutaneous malignant melanomas rarely occur in the eye, usually in the eyelids or the conjunctiva. Conjunctival malignant melanomas are even rarer. Most melanomas are dark in color as they are pigmented. However, amelanotic conjunctival malignant melanomas, a scarce variant of the cancer, can be challenging to diagnose accurately.
    METHODS: We present two cases of white Caucasian Swedish-born women who were diagnosed with unilateral amelanotic malignant melanoma in the conjunctiva of the eye. In the first case, the patient was an 81-year-old woman who was suffering from redness and foreign body sensation in the left eye. The initial diagnosis was blepharitis. Three biopsies were taken, which showed malignant melanoma in the eyelid and the conjunctiva. Unfortunately, the eye and the rest of the orbit could not be saved, and the patient had to undergo an orbital exenteration. In the second case, the patient was a 50-year-old woman, and the tumor was localized in the temporal conjunctiva of the left eye. The initial diagnosis was pinguecula, but at the time of surgery, the physician suspected conjunctival intraepithelial neoplasia. The tumor was not completely removed, so adjuvant brachytherapy and local chemotherapy were used. The eye was preserved. No neck and/or lung metastasis was detected in either case at the time of diagnosis.
    CONCLUSIONS: Conjunctival amelanotic malignant melanomas should be suspected when tumors are present in the eye and/or the eyelids. By suspecting amelanotic malignant melanoma, the delay in treatment can be shortened. Treating them as soon as possible is essential to minimize the risk of metastasis.
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  • 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: Case Reports
    合并肿瘤是由两个良性肿瘤或良性和恶性肿瘤或在同一肿瘤群体中发生的两个恶性肿瘤组成的那些。合并肿瘤的发生率非常罕见。由于这些肿瘤的稀有性,他们的生物学行为仍未受到破坏。一名48岁女性患者的切口活检,口腔弥漫性肿瘤块显示恶性黑色素瘤和鳞状细胞癌的合并肿瘤或碰撞肿瘤。这通过免疫组织化学研究得到证实。口腔恶性黑色素瘤和鳞状细胞癌合并肿瘤的发生率极为罕见。据我们所知,根据以前的文献记录,这是人类口腔中首次出现此类病例。
    Combined tumours are those composed of two benign tumours or a benign and malignant tumour or two malignant tumours occurring within the same tumour population. The incidence of combined tumours is very rare. Due to the rarity of these tumours, their biological behaviour remains unlashed. Incisional biopsy of a 48 years old female patient with single, diffuse tumour mass in the oral cavity showed combined tumour or collision tumour of malignant melanoma and squamous cell carcinoma. This was confirmed with immunohistochemistry study. The incidence of combined tumour of malignant melanoma and squamous cell carcinoma in oral cavity is extremely rare. To the best of our knowledge based on the previous literature records, this is the first case report of its kind where there is incidence in the human oral cavity.
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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
    小细胞黑色素瘤伪装成肾上腺非霍奇金淋巴瘤。该指数报告说明了转移到肾上腺的小细胞型恶性黑色素瘤的欺骗性细胞形态学特征。通过对细胞块切片进行免疫细胞化学来确认诊断。还强调了关键的细胞形态模拟物及其独特特征。
    Small-cell melanoma masquerading as an adrenal non-Hodgkin lymphoma. The index report illustrates the deceptive cytomorphologic features of a small cell type malignant melanoma metastatic to the adrenal gland. The diagnosis was confirmed by performing immunocytochemistry on the cell block sections. The key cytomorphologic mimics and their distinctive features have also been highlighted.
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  • 文章类型: Case Reports
    恶性黑色素瘤(MM)以其高转移潜力而臭名昭著,心脏转移特别严重,因为它涉及心脏结构,并可能导致显著的心脏功能问题。虽然没有标准化的治疗方法,早期发现和干预可改善预后。
    Malignant melanoma (MM) is notorious for its high metastatic potential, with cardiac metastasis being particularly severe as it involves cardiac structures and can lead to significant cardiac functional issues. While there is no standardized treatment approach, early detection and intervention can improve prognosis.
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  • 文章类型: Case Reports
    直肠恶性黑色素瘤是一种侵袭性恶性肿瘤,以肛门疼痛和直肠出血为常见临床症状,发病率低。肠转移是皮肤黑素瘤的常见形式。在细胞层面上,观察到纤维基质呈紧密巢的形式,具有印字环状外观。这是一例67岁的男性,主要抱怨排便习惯改变,有四个月的直肠出血史,排便时疼痛。直肠指检,几乎一半的肛门腔被肉质肿块占据。详细的检查显示溃疡,从肛门直肠交界处延伸的黑色结节。影像学检查证实直肠远端有息肉样病变。活检的组织病理学检查显示与恶性黑色素瘤一致的特征,由HMB-45和S-100标记的阳性染色支持。患者接受了开腹腹会阴切除术,随后是术后管理和开始化疗。可以注意到这种情况,强调了直肠恶性黑色素瘤的诊断和治疗的重要性,并强调了早期识别对改善患者预后的重要性。
    Malignant melanoma of the rectum is an aggressive malignant tumor with anal pain and rectal bleeding as common clinical symptoms with a low incidence. Intestinal metastases are a common form of cutaneous melanoma. On a cellular level, the fibrous stroma is observed to be in the form of compact nests with a signet ring-like appearance. This is a case of a 67-year-old male with major complaints of altered bowel habits, a history of rectal bleeding for four months, and pain during defecation. Upon digital rectal examination, nearly half of the anal lumen was occupied by a fleshy mass. A detailed examination showed an ulcerating, black-colored nodule extending from the anorectal junction. Imaging studies confirmed a polypoidal lesion in the distal rectum. Histopathological examination of the biopsies revealed features consistent with malignant melanoma, supported by positive staining for HMB-45 and S-100 markers. The patient underwent an open abdominoperineal resection, followed by postoperative management and the initiation of chemotherapy. This case can be noted as underscoring the criticality of the diagnosis and treatment of rectal malignant melanoma and highlighting the importance of early recognition for improved patient outcomes.
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  • 文章类型: Case Reports
    心血管成像在决定癌症治疗之前识别预先存在的心脏合并症中起着重要作用,并作为检测治疗和长期随访期间变化的参考,以及进一步识别潜在肿瘤疾病的可能心脏表现。
    我们报告一例81岁的恶性黑色素瘤患者。患者最初是在开始使用丝氨酸/苏氨酸蛋白激酶B-Raf/丝裂原激活的细胞外信号调节激酶抑制剂进行辅助治疗之前出现的。使用经胸超声心动图进行心脏病分期诊断,经食管超声心动图,和心血管磁共振成像(CMR)很可能显示潜在疾病的心脏表现。介绍了超声心动图和CMR结果以及诊断检查。
    心脏肿块一般有多种鉴别诊断。心脏转移比原发性肿瘤更常见,比例约为10:1。建议在开始潜在的心脏毒性抗癌治疗之前,对所有癌症患者进行心血管危险分层。心血管成像在基线风险分层中起着重要作用,但也是心脏肿瘤鉴别诊断和潜在治疗计划的主要诊断工具。
    UNASSIGNED: Cardiovascular imaging plays an important role in identifying pre-existing cardiac comorbidity prior to the decision on cancer therapy and serves as a reference for detecting changes during treatment and long-term follow-up and also in the further identification of a possible cardiac manifestation of the underlying oncological disease.
    UNASSIGNED: We report the case of an 81-year-old patient with a malignant melanoma. The patient initially was presented before the start of adjuvant therapy with serine/threonine-protein kinase B-Raf/mitogen-activated extracellular signal-regulated kinase inhibitors. Cardiologic staged diagnostics using transthoracic echocardiography, transoesophageal echocardiography, and cardiovascular magnetic resonance imaging (CMR) revealed with a high probability a cardiac manifestation of the underlying disease. The echocardiographic and CMR results as well as the diagnostic workup are presented.
    UNASSIGNED: Cardiac masses in general have a variety of differential diagnoses. Cardiac metastases are much more common than primary neoplasms in a ratio of about 10:1. Cardiovascular risk stratification is recommended in all patients with cancer before starting potentially cardiotoxic anticancer therapy. Cardiovascular imaging plays an important role for baseline risk stratification but is also the leading diagnostic tool in the differential diagnosis of cardiac tumours and the planning of a potential therapy.
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  • 文章类型: Journal Article
    背景:由于皮肤病理学领域并不是一门精确的科学,它容易产生个人主观性,有时会导致对某些组织学特征的诊断和评估存在分歧。在黑色素瘤的情况下,一些变量,如回归与低观察者之间的一致性有关。相反,其他变量,如Breslow厚度的测量显示出高再现性。
    目的:我们研究的主要目的是调查60例连续黑色素瘤的多个特征,以建立观察者间的可重复性。
    结果:我们在Manises医院进行了一项观察性和描述性研究,瓦伦西亚,西班牙,IVO基金会,瓦伦西亚,西班牙,和12号医院,马德里,西班牙。所有研究变量的平均一致性水平中等(Cohen的kappa系数统计值=0.5)。最高的一致性对应于息肉形态,色素沉着,溃疡,和太阳弹性沉着症。另一方面,对于细胞多态性和肿瘤坏死的存在,达成了最低水平的协议。
    结论:我们的平均协议水平中等,这反映了一些测量的特征,如细胞多态性或坏死的存在不能用于未来的研究或必须重新定义和再现性,重建。在进行研究时,有必要对研究变量进行分析,以证明其衡量或分类某一特征的有效性。还建议保证变量是可重复的,以便能够将它们用于其他研究或常规临床实践。
    BACKGROUND: Since the field of dermatopathology is not an exact science, it is prone to personal subjectivity, which sometimes causes disagreements on the diagnosis and assessment of some histological features. In the case of melanoma, some variables such as regression are associated with low interobserver agreement. On the contrary, other variables such as the measurement of Breslow thickness show high reproducibility.
    OBJECTIVE: The main objective of our study was to investigate multiple features of 60 consecutive cases of melanoma to establish interobserver reproducibility.
    RESULTS: We conducted an observational and descriptive study at Hospital de Manises, Valencia, Spain, IVO Foundation, Valencia, Spain, and Hospital 12 de Octubre, Madrid, Spain. The mean level of agreement of all study variables was moderate (Cohen\'s kappa coefficient statistic = 0.5). The highest agreement corresponded to polypoid morphology, pigmentation, ulceration, and solar elastosis. On the other hand, the lowest level agreement was reached for the presence of cellular pleomorphism and tumor necrosis.
    CONCLUSIONS: Our mean level of agreement was moderate, which reflects that some of the measured characteristics such as cellular pleomorphism or the presence of necrosis cannot be used for future studies or must be redefined and their reproducibility, reestablished. When conducting a research study, it is necessary to analyze the study variables to demonstrate their validity to measure or classify a certain feature. It is also advisable to warrant that that the variables are reproducible to be able to use them for other studies or in the routine clinical practice.
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