paraneoplastic syndrome

副肿瘤综合征
  • 文章类型: Systematic Review
    背景:肾病综合征(NS)可以作为与各种类型癌症相关的副肿瘤疾病发生。然而,副肿瘤肾病综合征(PNS)常被误诊为特发性肾病综合征或肿瘤治疗的不良反应,导致诊断延迟和治疗欠佳。与实体恶性肿瘤相关的NS的特征尚未阐明。我们系统总结了128例NS合并实体恶性肿瘤的临床资料,旨在告知PNS的临床处理。
    方法:我们在PubMed数据库中搜索了从开始之日到2023年10月发表的文章,使用以下关键词:“癌症”或“恶性肿瘤”或“瘤形成”或“肿瘤”和“肾病综合征”,“肾病”或“综合征”,肾病\“。所有数据均来自病例报告和病例系列,并且提取包括用于识别个体水平的患者数据的方法。
    结果:通过文献检索,发现了105例PNS和23例因癌症治疗引起的NS。诊断时的中位年龄为60岁,男女比例为1.8:1。在PNS患者中,以前发生过NS的表现,同时,或在诊断出肿瘤后(36%,30%,34%的病例,分别)。膜性肾病(49%)是最常见的肾脏病理,特别是在肺部患者中发现。结直肠,或者乳腺癌.不管是单独治疗还是与NS联合治疗,缓解的可能性很高.
    结论:NS的病理类型可能与PNS患者的特定恶性肿瘤有关。PNS的迅速识别以及适当的治疗干预对患者的预后有重大影响。
    BACKGROUND: Nephrotic syndrome (NS) can occur as a paraneoplastic disorder in association with various types of carcinoma. However, paraneoplastic nephrotic syndrome (PNS) is often misdiagnosed as idiopathic nephrotic syndrome or as an adverse effect of oncology treatment, leading to delayed diagnosis and suboptimal treatment. The characteristics of NS associated with solid malignancies are not yet elucidated. We systematically summarized the clinical data for 128 cases of NS combined with solid malignancies with the aim of informing the clinical management of PNS.
    METHODS: We searched the PubMed database for articles published from the date of inception through to October 2023 using the following keywords: \"cancer\" or \"malignant neoplasms\" or \"neoplasia\" or \"tumors\" and \"nephrotic syndrome\", \"nephrotic\" or \"syndrome, nephrotic\". All data were extracted from case reports and case series, and the extraction included a method for identifying individual-level patient data.
    RESULTS: A literature search yielded 105 cases of PNS and 23 of NS induced by cancer therapy. The median age at diagnosis was 60 years, with a male to female ratio of 1.8:1. In patients with PNS, manifestations of NS occurred before, concomitantly with, or after diagnosis of the tumor (in 36%, 30%, and 34% of cases, respectively). Membranous nephropathy (49%) was the most prevalent renal pathology and found particularly in patients with lung, colorectal, or breast carcinoma. Regardless of whether treatment was for cancer alone or in combination with NS, the likelihood of remission was high.
    CONCLUSIONS: The pathological type of NS may be associated with specific malignancies in patients with PNS. Prompt identification of PNS coupled with suitable therapeutic intervention has a significant impact on the outcome for patients.
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  • 文章类型: Journal Article
    黑色素瘤相关视网膜病变(MAR)是一种与皮肤转移性黑色素瘤相关的副肿瘤综合征,患者出现视力缺陷,包括夜视功能下降,对比敏感度差,和光视。MAR是由靶向TRPM1的自身抗体引起的,TRPM1是在黑素细胞和视网膜ON双极细胞(ON-BC)中发现的离子通道。当TRPM1自身抗体进入ON-BCs并阻断TRPM1的功能时出现视觉症状,因此在患者血清中检测TRPM1自身抗体是诊断MAR的关键标准。视网膜电图用于测量TRPM1自身抗体对ON-BC功能的影响,并代表MAR的另一个重要诊断工具。迄今为止,MAR病例报告包括一个或两个诊断组件,但只针对患者疾病过程中的单个时间点。这里,我们报告了一例由血清自身抗体检测的纵向分析支持的MAR,视觉功能,眼部炎症,血管完整性,以及对缓释眼内皮质类固醇的反应。将这些数据与患者的肿瘤和眼科记录相结合,揭示了有关MAR发病机制的新见解。programming,和治疗,这可能为新的研究提供信息,扩大我们对这种疾病的集体理解。简而言之,我们发现TRPM1自身抗体即使在westernblot和免疫组织化学几乎检测不到血清水平时也能破坏视力;尽管循环中的TRPM1自身抗体水平很高,但眼内地塞米松治疗可缓解MAR视觉症状,提示抗体进入视网膜是MAR发病机制的关键因素。患者眼睛中炎性细胞因子水平升高可能是观察到的血-视网膜屏障损伤以及随后自身抗体进入视网膜的原因。
    Melanoma-associated retinopathy (MAR) is a paraneoplastic syndrome associated with cutaneous metastatic melanoma in which patients develop vision deficits that include reduced night vision, poor contrast sensitivity, and photopsia. MAR is caused by autoantibodies targeting TRPM1, an ion channel found in melanocytes and retinal ON-bipolar cells (ON-BCs). The visual symptoms arise when TRPM1 autoantibodies enter ON-BCs and block the function of TRPM1, thus detection of TRPM1 autoantibodies in patient serum is a key criterion in diagnosing MAR. Electroretinograms are used to measure the impact of TRPM1 autoantibodies on ON-BC function and represent another important diagnostic tool for MAR. To date, MAR case reports have included one or both diagnostic components, but only for a single time point in the course of a patient\'s disease. Here, we report a case of MAR supported by longitudinal analysis of serum autoantibody detection, visual function, ocular inflammation, vascular integrity, and response to slow-release intraocular corticosteroids. Integrating these data with the patient\'s oncological and ophthalmological records reveals novel insights regarding MAR pathogenesis, progression, and treatment, which may inform new research and expand our collective understanding of the disease. In brief, we find TRPM1 autoantibodies can disrupt vision even when serum levels are barely detectable by western blot and immunohistochemistry; intraocular dexamethasone treatment alleviates MAR visual symptoms despite high levels of circulating TRPM1 autoantibodies, implicating antibody access to the retina as a key factor in MAR pathogenesis. Elevated inflammatory cytokine levels in the patient\'s eyes may be responsible for the observed damage to the blood-retinal barrier and subsequent entry of autoantibodies into the retina.
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  • 文章类型: Case Reports
    掌筋膜炎和多关节炎综合征(PFPAS)是一种极为罕见的风湿病,其特征是掌筋膜纤维化改变并伴有关节疼痛。已知与妇科恶性肿瘤有关,尤其是卵巢腺癌,胃癌,胰腺,前列腺,乳房,还有肺癌.我们介绍了一个独特的病例,该病例是一名75岁的白人女性,在八个月前诊断为卵巢癌。我们的病例强调了将PFPAS视为潜在副肿瘤综合征的重要性。它强调了需要提高认识和进一步研究,以增强对表现出类似非特异性手部症状的患者的潜在恶性肿瘤的早期发现。
    Palmar fasciitis and polyarthritis syndrome (PFPAS) is an exceedingly rare rheumatologic condition characterized by fibrotic changes in the palmar fascia with joint pains. It is known to be associated with gynecological malignancy, especially ovarian adenocarcinoma, gastric cancer, pancreatic, prostate, breast, and lung cancer. We present a unique case of a 75-year-old Caucasian female with PFPAS preceding the diagnosis of ovarian cancer by eight months. Our case highlights the importance of considering PFPAS as a potential paraneoplastic syndrome. It underscores the need for increased awareness and further studies to enhance the early detection of underlying malignancies in patients presenting with similar nonspecific hand symptoms.
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  • 文章类型: Case Reports
    系统性毛细血管渗漏综合征(SCLS)是一种罕见的实体,通常是特发性或,很少,与感染有关,自身免疫性疾病,毒品,手术,和癌症。几种癌症可以直接导致SCLS,尽管它作为非霍奇金淋巴瘤的开幕演讲非常罕见。我们报告了一例SCLS为副肿瘤综合征,显示大B细胞淋巴瘤,B细胞起源的非霍奇金淋巴瘤。
    Systemic capillary leak syndrome (SCLS) is a rare entity that is frequently idiopathic or, rarely, associated with infections, autoimmune diseases, drugs, surgery, and cancer. Several cancers can directly cause SCLS, although it is very uncommon as the inaugural presentation of a non-Hodgkin lymphoma. We report a case of SCLS as a paraneoplastic syndrome which revealed a large B-cell lymphoma, a non-Hodgkin lymphoma of B-cell origin.
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  • 文章类型: Case Reports
    化生胸腺瘤是一种罕见的双相胸腺肿瘤,表现为惰性和复发性YAP1::MAML2基因重排。虽然这种肿瘤的诊断通常是直接基于苏木精和曙红(H&E)的发现,梭形细胞(“假肉瘤间质”)成分不足的病例很容易与更常见的A型胸腺瘤混淆。我们介绍了一例具有稀疏基质样梭形细胞成分的化生性胸腺瘤,讨论其组织学和免疫组织化学提示,并提请注意与A型胸腺瘤的视觉相似性。这也是第一例与银屑病相关的化生胸腺瘤。
    Metaplastic thymoma is a rare biphasic thymic tumor with indolent behavior and recurrent YAP1::MAML2 gene rearrangement. Although the diagnosis of this tumor is usually straightforward based on hematoxylin and eosin (H&E) findings alone, cases with scant spindle-cell (\"pseudosarcomatous stroma\") components can be easily confused with more commonly occurring type A thymoma. We present a case of metaplastic thymoma with a sparse stroma-like spindle-cell component, discussing its histological and immunohistochemical hints and drawing attention to the visual similarity to type A thymoma. This is also the first published case of metaplastic thymoma with associated psoriasis.
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  • 文章类型: Case Reports
    Urachal癌是一种罕见的恶性肿瘤,具有独特的生物分子特征,因此方法复杂。2004年被世界卫生组织纳入泌尿系肿瘤分类。这种肿瘤通常在晚期诊断。标准的治疗方法是手术,然而,由于脐管癌的罕见和相对较晚的临床表现,生存数据主要是病例报告,以及基于证据的医疗手术治疗信息。使用的数据是从物理和电子临床记录中提取的。在文献中报道的非典型陈述中,我们报道了一例脐尿管腺癌同时伴有肾小球肾炎的副肿瘤综合征,目前尚无报道。手术是在我们的病人身上进行的,不幸的是,由于肾小球肾炎继发于肾功能损害的肾功能替代,尽管以前曾对快速进展性肾小球肾炎进行免疫抑制治疗。值得一提的是,如果初始诊断代表临床挑战,治疗更加复杂,鉴于目前存在的关于它的信息很少。Urachal癌是诊断和治疗的挑战。到目前为止,手术一直是局部或局部晚期疾病的首选治疗方法,然而,对病人有很高的发病率。
    Urachal carcinoma is an uncommon malignancy with a peculiar biomolecular characterization and therefore a complex approach. It was incorporated by the World Health Organization in 2004 in the tumors of the urinary system classification. This neoplasm is generally diagnosed in advanced stages. The standard treatment is surgical, however, due to the rarity and relatively late clinical manifestation of urachal carcinomas, the survival data are mostly case reports, as well as information about medical-surgical treatment based on evidence. The data used were extracted from both the physical and electronic clinical records. Among atypical presentations reported in the literature, we report a case of urachal adenocarcinoma with simultaneous glomerulonephritis as a paraneoplastic syndrome of which there is no report to date. Surgery was carried out in our patient, unfortunately with lifetime morbidity from kidney function replacement secondary to kidney function damage by glomerulonephritis, despite previous immunosuppression treatment for rapidly progressive glomerulonephritis. It is worth mentioning that if the initial diagnosis represents a clinical challenge, treatment is even more complex, given the little information that currently exists about it. Urachal carcinoma is a diagnostic and treatment challenge. Up to now, surgery has been the treatment of choice in localized or locally advanced disease, however, with a high morbidity for the patient.
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  • 文章类型: Case Reports
    与原发性肺癌相关的双侧肾上腺增生可能起因于促肾上腺皮质激素(ACTH)依赖性副肿瘤综合征或转移性增生。异位库欣综合征表现为以恶性细胞分泌促肾上腺皮质激素为特征的副肿瘤综合征。这种分泌反过来会过度刺激肾上腺皮质,导致肾上腺皮质增生,然后是皮质醇增多症。虽然罕见,肺癌可以转移到双侧肾上腺,偶尔导致出血,导致大小迅速增加。这份尸体报告旨在描绘一个不寻常的转移性肺癌病例,表现为双侧肾上腺增生和两个腹主动脉瘤(AAA)。在例行课程中解剖了一名84岁的白人男性尸体。右肺解剖显示浅黄色肿块,大小为10.0x7.4x7.0cm。一个不规则的定义,坏死,测量5.5x4.5x3.3cm的溃疡病变在左肩的侧面是明显的,与转移性肺癌病史一致。在腹部解剖时,观察到双侧肾上腺增大和两个AAAs。这些AAAs在其各自最宽的横向直径处测得6.0cm和11.0cm。左右肾上腺测量10.0x6.5x4.5cm和7.3x4.7x3.5cm,分别。我们旨在讨论该尸体中这些异常发现的可能病理生理相关性。
    Bilateral adrenal hyperplasia associated with primary lung cancer may arise from either an adrenocorticotropic hormone (ACTH)-dependent paraneoplastic syndrome or metastatic hyperplasia. Ectopic Cushing\'s syndrome manifests as a paraneoplastic syndrome characterized by the secretion of ACTH from malignant cells. This secretion can in turn overstimulate the adrenal cortex, resulting in adrenal cortical hyperplasia followed by hypercortisolism. Though rare, lung cancer can metastasize to the adrenal glands bilaterally, occasionally resulting in hemorrhage causing a rapid increase in size. This cadaveric report aims to delineate an unusual case of metastatic lung cancer, presenting with bilateral adrenal hyperplasia and two abdominal aortic aneurysms (AAA). An 84-year-old white male cadaver was dissected during routine coursework. Dissection of the right lung revealed a pale-yellow mass measuring 10.0 x 7.4 x 7.0cm. An irregularly defined, necrotic, ulcerated lesion measuring 5.5 x 4.5 x 3.3cm was evident on the lateral surface of the left shoulder, consistent with a history of metastatic lung carcinoma. Upon abdominal dissection, bilaterally enlarged adrenal glands and two AAAs were observed. These AAAs measured 6.0cm and 11.0cm at their respective widest transverse diameters. The right and left adrenal glands measured 10.0 x 6.5 x 4.5cm and 7.3 x 4.7 x 3.5cm, respectively. We aim to discuss the possible pathophysiological correlation of these unusual findings in this cadaver.
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  • 文章类型: Journal Article
    畸胎瘤占所有颅内生殖细胞肿瘤的18-20%,主要发生在松果体区域,文献中描述的小儿鞍和鞍上畸胎瘤只有少数病例。这里,我们介绍了一例患有颅内成熟畸胎瘤的儿童,其胰腺特征导致血管痉挛和随后的中风,发现CDKN2A阳性-与恶性肿瘤和小血管疾病相关的独立变异导致卒中。
    Teratomas account for 18-20% of all intracranial germ cell tumors and mostly occur in the pineal region with only a few cases of pediatric sellar and suprasellar teratomas described in the literature. Here, we present a case of a child with an intracranial mature teratoma with pancreatic features causing vasospasm and subsequent stroke, found to be positive for CDKN2A-an independent variant associated with malignancy and small vessel disease leading to stroke.
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  • 文章类型: Case Reports
    鳞状细胞癌(SCC)是第二常见的皮肤癌。由于紫外线照射是一个重要的危险因素,SCC通常发生在面部,嘴唇,头皮,手,和高跟鞋。脚是表现SCC的不寻常位置。在这份报告中,我们介绍了一例44岁女性,其右足跟严重局部复发,最初切除小学四年后,小病变。由于各种原因,在此期间,患者没有到诊所进行随访评估.考虑到病变的程度和感染风险,受影响的腿在小腿的三分之一处被截肢。此病例报告强调了对患者进行SCC风险教育并协助他们进行随访的重要性。此外,应充分注意外观可疑的足部病变。及早发现可以最大限度地减少系统性风险,包括转移和感染,并在手术干预后最大限度地保留功能。
    Squamous cell carcinoma (SCC) is the second most common type of skin cancer. As ultraviolet exposure represents an important risk factor, SCC commonly occurs on the face, lips, scalp, hands, and heels. The foot is an unusual location to manifest SCC. In this report, we present a case of a 44-year-old woman with severe local recurrence of SCC in the right heel, four years after an initial excision of a primary, small lesion. For various reasons, the patient did not visit the clinic for follow-up assessment during this period. Considering the extent of the lesion and infection risk, the affected leg was amputated at one-third of the lower leg. This case report underlines the importance of educating patients about the risk of SCC and assisting them in attending follow-up visits. In addition, adequate attention should be given to foot lesions with suspicious appearance. Early detection would minimize systemic risks, including metastasis and infection, and maximize preserved function after surgical intervention.
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  • 文章类型: Letter
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