Dataset Information

Ocular Paraneoplastic Syndromes.

ABSTRACT: Ocular-involving paraneoplastic syndromes present a wide variety of clinical symptoms. Understanding the background pathophysiological and immunopathological factors can help make a more refined differential diagnosis consistent with the signs and symptoms presented by patients. There are two main pathophysiology arms: (1) autoimmune pathomechanism, which is presented with cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR), cancer-associated cone dysfunction (CACD), paraneoplastic vitelliform maculopathy (PVM), and paraneoplastic optic neuritis (PON), and (2) ectopic peptides, which is often caused by tumor-expressed growth factors (T-exGF) and presented with bilateral diffuse uveal melanocytic proliferation (BDUMP). Meticulous systematic analysis of patient symptoms is a critical diagnostic step, complemented by multimodal imaging, which includes fundus photography, optical coherent tomography, fundus autofluorescence, fundus fluorescein angiography, electrophysiological examination, and sometimes fundus indocyjanin green angiography if prescribed by the clinician. Assessment of the presence of circulating antibodies is required for diagnosis. Antiretinal autoantibodies are highly associated with visual paraneoplastic syndromes and may guide diagnosis by classifying clinical manifestations in addition to monitoring treatment.

SUBMITTER: Przezdziecka-Dolyk J

PROVIDER: S-EPMC7698240 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Ocular Paraneoplastic Syndromes.

Przeździecka-Dołyk Joanna J Brzecka Anna A Ejma Maria M Misiuk-Hojło Marta M Torres Solis Luis Fernando LF Solís Herrera Arturo A Somasundaram Siva G SG Kirkland Cecil E CE Aliev Gjumrakch G

Biomedicines 20201110 11

Ocular-involving paraneoplastic syndromes present a wide variety of clinical symptoms. Understanding the background pathophysiological and immunopathological factors can help make a more refined differential diagnosis consistent with the signs and symptoms presented by patients. There are two main pathophysiology arms: (1) autoimmune pathomechanism, which is presented with cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR), cancer-associated cone dysfunction (CACD), paran ...[more]

PMID: 33182708

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Project description:Background and objectiveParaneoplastic neurological syndromes (PNS) are a group of rare syndromes associated with immunopathological process and tumors. Paraneoplastic autoantibodies are important for the diagnosis of PNS and for searching for underlying tumors. With the development of detection methods and discovery of new autoantibodies, the 2004 guidelines on PNS have recently been updated by a worldwide PNS-Care expert group. For clinicians, proper testing methods and testing results explanation are important for the diagnosis and treatment of PNS. This review aims to review the detection of paraneoplastic autoantibodies and the significance of testing results.MethodsWe summarize the studies on detection methods, association of autoantibodies and PNS or tumors, particularly the guidelines of PNS.Key content and findingsAntibodies are divided into 3 groups in the context of PNS according to the frequency of cancer association regardless of their eventual pathogenic effect. Instead of well-characterized antibodies and partially-characterized antibodies, high-risk antibodies, intermediate risk antibodies and lower risk antibodies were applied. According to the location of recognized antigens, these autoantibodies are divided as anti-intracellular antigen antibodies and neuronal surface antibodies (NSAbs). Tissue-based assays is recommended as screening method for paraneoplastic antibodies. Moreover, this method is helpful to discover new autoantibodies. A combination of a screening method [tissue-based assays (TBA)] and a confirmatory test [immunoblot and cell-based assay (CBA)] can improve sensitivity and specificity of the tests. Many PNSs are associated with specific antineuronal antibodies, but there is considerable diversity. Some autoantibodies are markers of specific neurological syndromes. Paraneoplastic antibodies are often specific for the PNS-associated tumor rather than for a particular neurological syndrome.ConclusionsDiagnosis of PNS depends on integrated analysis of clinical manifestations and auxiliary examinations. During diagnosis, selection of candidate antibodies for testing is challenging due to the varying clinical phenotypes and tumors associated with a given antibody. Broad antibody panels are more likely to capture causative antibodies and should be considered. According to different subtypes of autoantibodies, specific tumors or PNS should be considered. However, antibody titers, including cerebrospinal fluid (CSF) titers, should not be the primary driver of treatment decisions.

Project description:ObjectiveOur aim was to assess the prevalence of endocrine paraneoplastic syndromes (EPNS) in neuroendocrine neoplasms (NENs) and estimate its impact on patient outcomes.DesignThis is a retrospective analysis of 834 patients with NENs (611 gastrointestinal, 166 thoracic, 57 of unknown and various other primary origin). We included 719 consecutive NEN patients treated at EKPA-Laiko Hospital, Athens, Greece and 115 patients with lung carcinoid (LC) treated at Uppsala University Hospital, Uppsala, Sweden. EPNS diagnosis was based on standard criteria.MethodsTwenty-one patients with EPNS were detected: 16 with ectopic Cushing's syndrome (ECS), one with hypercalcaemia due to parathyroid hormone-related protein (PTHrP) secretion, three with hypercalcitonaemia and one patient with dual secretion of calcitonin and beta-human chorionic gonadotropin (?-HCG). All tumours were well-differentiated; 10 patients had Stage IV disease at diagnosis.ResultsThe prevalence of EPNS in the Greek cohort was 1.9%, whereas that of ECS among LC patients in both centres was 6.7%. Median overall survival (OS) for patients with EPNS was 160.7 months (95%CI, 86-235.4) and median event-free survival (EFS) was 25.9 months (95%CI, 0-57.2). Patients presenting with EPNS prior to NEN diagnosis had longer EFS compared to patients with synchronous or metachronous EPNS (log-rank P?=?0.013). Patients with ECS of extra-thoracic origin demonstrated shorter OS and EFS compared to patients with ECS of lung or thymic origin (log-rank P?=?0.001 and P?<?0.001, respectively). LC patients with and without ECS were comparable in 5-year and 10-year OS rates (66.7% and 33.3% versus 89.8% and 60.2%, respectively; 95%CI [189.6-300.4 months], log-rank P?=?0.94) and in median EFS, 67 versus 183 months, 95%CI [50.5-207.5], log-rank P?=?0.12).ConclusionEPNS are relatively rare in patients with NENs and mainly concern well-differentiated tumours of the foregut. Among patients with EPNS, LC-related ECS may not adversely affect patient outcomes when diagnosed prior to NEN and effectively been treated.

Project description:ImportanceLittle is known of glutamic acid decarboxylase antibodies (GAD-abs) in the paraneoplastic context. Clinical recognition of such cases will lead to prompt tumor diagnosis and appropriate treatment.ObjectiveTo report the clinical and immunological features of patients with paraneoplastic neurological syndromes (PNS) and GAD-abs.Design, setting, and participantsRetrospective case series study and immunological investigations conducted in February 2014 in a center for autoimmune neurological disorders. Fifteen cases with GAD65-abs evaluated between 1995 and 2013 who fulfilled criteria of definite or possible PNS without concomitant onconeural antibodies were included in this study.Main outcomes and measuresAnalysis of the clinical records of 15 patients and review of 19 previously reported cases. Indirect immunofluorescence with rat hippocampal neuronal cultures and cell-based assays with known neuronal cell-surface antigens were used. One hundred six patients with GAD65-abs and no cancer served as control individuals.ResultsEight of the 15 patients with cancer presented as classic paraneoplastic syndromes (5 limbic encephalitis, 1 paraneoplastic encephalomyelitis, 1 paraneoplastic cerebellar degeneration, and 1 opsoclonus-myoclonus syndrome). When compared with the 106 non-PNS cases, those with PNS were older (median age, 60 years vs 48 years; P = .03), more frequently male (60% vs 13%; P < .001), and had more often coexisting neuronal cell-surface antibodies, mainly against γ-aminobutyric acid receptors (53% vs 11%; P < .001). The tumors more frequently involved were lung (n = 6) and thymic neoplasms (n = 4). The risk for an underlying tumor was higher if the presentation was a classic PNS, if it was different from stiff-person syndrome or cerebellar ataxia (odds ratio, 10.5; 95% CI, 3.2-34.5), or if the patient had coexisting neuronal cell-surface antibodies (odds ratio, 6.8; 95% CI, 1.1-40.5). Compared with the current series, the 19 previously reported cases had more frequent stiff-person syndrome (74% vs 13%; P = .001) and better responses to treatment (79% vs 27%; P = .005). Predictors of improvement in the 34 patients (current and previously reported) included presentation with stiff-person syndrome and the presence of a thymic tumor.Conclusions and relevancePatients with GAD-abs must be screened for an underlying cancer if they have clinical presentations different from those typically associated with this autoimmunity or develop classic PNS. The risk for cancer increases with age, male sex, and the presence of coexisting neuronal cell-surface antibodies.

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Ocular Paraneoplastic Syndromes.

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Ocular Paraneoplastic Syndromes.

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