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Primary adrenal small cell neuroendocrine carcinoma is clinically rare. This article reported a patient, who was diagnosed as primary adrenal small cell neuroendocrine carcinoma complicated with renal vein cancer thrombus, and underwent laparoscopic left adrenal + left kidney + left renal vein tumor embolectomy.The carcinoma relapsed after 19 months of follow-up after surgery. The patient and his family refused further treatment.
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Objective:To analyze the frequency and characteristics of polymyositis (PM) in idiopathic inflammatory myopathy (IIM), and to investigate whether PM is over-diagnosed.Methods:Patients diagnosed as IIM according to the Bohan & Peter criteria of IIM hospitalized in the Department of Rheumatology of China-Japan Friendship Hospital from 2008 to 2019 were involved in the study. Definite PM (dPM) was defined as typical clinical and pathological features including elevated creatine kinase (CK) level, muscle weakness and muscle biopsy findings with endomysial CD8 + T cell infiltration and expression of MHC-1 on sarcolemma. Meanwhile, dermatomyositis (DM), anti-synthase syndrome(ASS), immune-mediated necrotic myopathy(IMNM), sporadic inclusion body myositis(sIBM) and other myopathies were excluded according to the new classification criteria of IIM subtypes respectively. Statistical analysis was performed using SPSS software 24.0. The Kruskal-Wallis test and χ2 test were used to compare the clinical characteristics between the dPM group and other IIM subtypes. Results:A total of 1 259 patients with IIM including 1 015 (80.6%) DM and 244(19.4%) PM were enrolled in this study. According to the strict definition of PM criteria, only 0.5% of patients (6/1 259) in IIM could be diagnosed as dPM. Most PM patients were IMNM and ASS according to the new IIM subtypes criteria, of which 48.0% (117/244) were IMNM and 32.0% (78/244) were ASS. 66.7%(4/6) of dPM patients were women. One complicated with RA, and one was dPM overlaped with systemic sclerosis. All of them had muscle weakness, mild elevation of CK level [611(391,1 451) U/L], and were myositis-specific autoantibodies negative. Except one dPM patients who did not receive immunoregulatory therapy due to chronic obstructive pulmonary disease, the others were administrated with low or medium dose prednisone combined with or without immunosuppressive agents. After a median follow-up of (38±26) months, the muscle strength of dPM patients were improved.Conclusion:dPM is a very rare clinical subtype of IIM. PM is an over-diagnosed entity in clinical practice. Patients with dPM have mild symptoms and good outcome.
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Objective To investigate the association of distinct myositis specific autoantibodies (MSAs) with long-term survival of patients with polymyositis (PM) and dermatomyositis (DM).Methods We analyzed the clinical data and outcome of patients with PM and DM who were hospita-lized in the department of rheumatology of China-Japan Friendship hospital from 1994 to 2015,and evaluated the impact of MSAs on the prognosis of patients.Multivariate Cox regression analysis was used to identify the prognostic risk factors for PM/DM patients.Results A total of 383 PM/DM patients were followed up for 1-333 months.Cumulative survival and 10-year survival rate of all patients were 68.6％ and 76.2％,respectively.The survival rate of 80.4％ and 77.1％ at 3 and 5 years in patients with MSAs,which were lower than those of patients with-out MSAs,who had the survival rate of 90.1％ and 87.4％ at 3 and 5 years,respectively(x2=3.90 and 3.98,P＜0.05).There was significant difference for long-term survival in all MSAs positive groups (x2=40.654,P=0.000).Anti-MDA5 positive patients who had the 10-year survival rate of 28.7％ had the worst prognosis,while anti-HMGCR positive patients who had the l0-year survival rate of 100％ had the best outcome in all groups.Multivariate Cox regression analysis showed that independent risk factors associated with the long-term survival of patients were age of onset,complicated with malignancies,dysphagia,rapidly progress interstitial lung disease,antiMDA5 antibody positive,increased serum aspartate transferase and C reaction protein.Conclusion MSAs are strongly associated with the prognosis of patients with PM/DM.Patients with MSAs has worse 5-year overall survival than those without MSAs,which indicates that screening MSAs and aggressive treatment for PM/DM patients at very early stage of disease may improve the outcome.
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Objective The aim of this study is to analyze the prevalence of myositis-specific autoantibodies (MSAs) and to elucidate their associations with clinical features in Chinese dermatomyositis (DM) patients. Methods Four hundreds and twenty-seven DM patients were enrolled in this retrospective study. Clinical features and sera were collected. Twelve subtypes of MSAs were detected by commercial test kits. The correlations between MSAs and clinical phenotypes in DM patients were calculated by t test, Mann-Whitney U test or χ2 test. In order to clarify whether MSAs subsets would be independent factors of certain clinical feature or not, separate models were established to test the correlation via the Logistic regression analysis. Results The positivity of MSAs was 69.8% in 427 patients with DM. Anti-ARS, anti-MDA5 and anti-TIF1-γ antibodies were the three most common MSAs in the DM patients with positivity of 19.9%, 17.6%and 17.1% respectively. Different kinds of rash associated with MSAs subtypes by χ2 test. Certain MSAs subtype might be an independent factor for clinical features via logistic regression analysis. Interstitial lung disease (ILD) was observed more frequently in patients carrying anti-MDA5 [OR=5.266, 95%CI (2.522, 10.996), P<0.01] and anti-Jo-1 [OR=6.232, 95%CI (1.674, 23.199), P=0.006]. On the contrary, anti-Mi2 [OR=0.208, 95%CI (0.074, 0.580, P=0.003] and anti-TIF1-γ [OR=0.189, 95%CI (0.096, 0.370), P<0.01] were protective factors against developing ILD. Anti-TIF1-γ was an independent risk factor for cancer-associated myositis [OR=5.907, 95%CI (2.868, 12.168), P<0.01]. Anti-TIF1-γ[OR=2.789, 95%CI (1.594, 4.880) P<0.01], anti-NXP2 [OR=2.983, 95%CI (1.274, 6.982), P=0.012] and anti-SAE1 [OR=4.815, 95%CI (1.082, 21.424), P=0.039] could worsen dysphagic tendencies. In contrast, anti-MDA5 [OR=0.349, 95%CI (0.169, 0.720), P=0.004] might decrease the prevalence of this manifestation. Conclusion Patients with DM have a high frequency of MSAs. Some subtypes of MSAs are correlated with and may be independent factors of different clinical phenotypes. These indicated that MSAs can be useful biomarkers in monitoring the extramuscular features in DM patients.
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Objective The aim of this study is to analyze the prevalence of myositis-specific autoantibodies (MSAs) and to elucidate their associations with clinical features in Chinese dermatomyositis (DM) patients. Methods Four hundreds and twenty-seven DM patients were enrolled in this retrospective study. Clinical features and sera were collected. Twelve subtypes of MSAs were detected by commercial test kits. The correlations between MSAs and clinical phenotypes in DM patients were calculated by t test, Mann-Whitney U test or χ2 test. In order to clarify whether MSAs subsets would be independent factors of certain clinical feature or not, separate models were established to test the correlation via the Logistic regression analysis. Results The positivity of MSAs was 69.8% in 427 patients with DM. Anti-ARS, anti-MDA5 and anti-TIF1-γ antibodies were the three most common MSAs in the DM patients with positivity of 19.9%, 17.6%and 17.1% respectively. Different kinds of rash associated with MSAs subtypes by χ2 test. Certain MSAs subtype might be an independent factor for clinical features via logistic regression analysis. Interstitial lung disease (ILD) was observed more frequently in patients carrying anti-MDA5 [OR=5.266, 95%CI (2.522, 10.996), P<0.01] and anti-Jo-1 [OR=6.232, 95%CI (1.674, 23.199), P=0.006]. On the contrary, anti-Mi2 [OR=0.208, 95%CI (0.074, 0.580, P=0.003] and anti-TIF1-γ [OR=0.189, 95%CI (0.096, 0.370), P<0.01] were protective factors against developing ILD. Anti-TIF1-γ was an independent risk factor for cancer-associated myositis [OR=5.907, 95%CI (2.868, 12.168), P<0.01]. Anti-TIF1-γ[OR=2.789, 95%CI (1.594, 4.880) P<0.01], anti-NXP2 [OR=2.983, 95%CI (1.274, 6.982), P=0.012] and anti-SAE1 [OR=4.815, 95%CI (1.082, 21.424), P=0.039] could worsen dysphagic tendencies. In contrast, anti-MDA5 [OR=0.349, 95%CI (0.169, 0.720), P=0.004] might decrease the prevalence of this manifestation. Conclusion Patients with DM have a high frequency of MSAs. Some subtypes of MSAs are correlated with and may be independent factors of different clinical phenotypes. These indicated that MSAs can be useful biomarkers in monitoring the extramuscular features in DM patients.
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Objective To profile the differentially expressed genes in the muscle of polymyositis (PM) patients.Methods A mRNA microarray analysis was performed to profile mRNAs from 5 treatment-naive PM patients and 5 healthy controls.Gene Ontology and KEGG pathway analyses were applied to delineate the functional roles of the differentially expressed mRNAs.Quantitative real-time PCR analysis was conducted to validate the microarray data.The Student's t-test was used to analyze the statistical significance of the microarray results,and Benjamini-Hochberg FDR was used for multiple-test correction.Results Microarray analysis revealed that a total of 1 905 mRNAs (787 up-regulated and 1 118 down-regulated) were significantly differentially expressed in PM patients compared with the healthy controls (fold change＞2,P＜0.05).Six mRNAs were selected to analyze by quantitative RT-PCR to validate their expression levels and the results were consistent with that of the microarray analysis,and thus provide reliable validation for the microarray results.Gene ontology and KEGG pathway analysis for the differentially expressed mRNAs revealed that these genes were mainly involved in the biological process of infection and cytotoxic effect.In addition,there were some common signaling pathways that shared by PM and other autoimmune diseases.Conclusion There are differences in gene expressions between PM patients and healthy controls.The muscle damage in PM patients may be due to multi gene involvement and multi gene regulation.
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Objective To study the relationship between anti-transcription intermediary factor 1 family proteins (TIF1) autoantibodies profiles and cancer-associated dermatomyositis (CAM) and to define the diagnostic value of different subtypes of anti-TIF1 aotuantibodies for CAM.Methods The sera from 156 patients with dermatomyositis (DM),55 with polymyositis (PM),70 with systemic lupus erythematosus (SLE),60 with rheumatoid arthritis (RA),46 with primary Sj(o)gren syndrome (pSS),14 with systemic sclerosis (SSc),49 with kinds of malignancies and 40 healthy subjects were examined by immunoprecipitation assays followed by western blotting.Statistical analysis were performed using ANOVA,t test Mann-Wittney U and x2 test or Fisher exact test,nonparametric method was used to evaluate the sensitivity and specificity through calculating the area under the receiver operating characteristic curve (ROC).Results In summary,32 of 156 sera from patients with DM (20.5％) were positive for at least one anti-TIF1 autoantibodies.There are four subtypes of anti-TIF1 autoantibodies profiles existed in patients with DM,including 4 patients with only positive anti-TIF1-α (12.5％),20 with only positive anti-TIF1-γ (62.5％),7 with both positive anti-TIF1-α and anti-TIF1-γ (21.9％) and 1 with both positive anti-TIF1-β and anti-TIF1-γ (3.1％).However,only positive anti-TIF1-α (7.3％) was observed in 4 patients with PM.No patients with other CTDs as well as malignancy and healthy subjects were positive for these autoantibodies.The sensitivity and specificity of presence of anti-TIF1-α antibodies for the diagnosis of CAM were 42.9％ and 96.5％,respectively and those of anti-TIF1-β antibodies were 0 and 99.3％,respectively and those of anti-TIF-1-γ antibodies were 64.3％ and 86.6％,respectively.Application of areas of ROC to identify the best performance of test of anti-TIF1 antibodies profiles were 0.70,0.50,0.76,0.74 and 0.71,respectively.Conclusion Joint detection of antiTIF1 autoantibodies profiles can improve the diagnostic capbility for CAM.
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Objective To determine the sera levels of anti-nuclear matrix protein (NXP)-2 autoantibodies and their clinical associations in patients with idiopathic inflammatory myopathies (IIM).Methods Sera from 198 Chinese patients with IIM including 15 juvenile dermatomyositis (JDM),133 dermatomyositis (DM) and 50 polymyositis (PM),other connective tissue diseases (CTDs) including 70 systemic lupus erythematosus,60 rheumatoid arthritis,15 systemic sclerosis,46 primary Sj(o)gren syndrome,10 mixed connective tissue disease and 60 healthy controls were measured by enzyme linked immunosorbent assay.The anti-NXP-2 antibodies were detected.The positive sera were further examined by immunoprecipitation assays.Statistical analyses were performed using student's t test or Mann-Wittney U test and x2 test.Results The positive rate of sera anti-NXP-2 autoantibodies in patients with IIM was 5.1％ (10/198),20.0％ (3/15) in patients with JDM,3.7％ (5/133) in patients with dermatomyositis,and 4.0％(2/50) in patients with polym-yositis.There was statistical significant difference in anti-NXP-2-positive rates between JDM,DM and PM (P＜0.05).However,the autoantibody did not present in patients with other CTDs as well as healthy controls.The anti-NXP-2-positive patients had significantly younger age [(33±20) vs (45±17) years old (t=-2.09,P＜0.05)] and higher incidence of calcinosis [30.0％(3/10) vs 2.6％(15/188)] compared with the anti-NXP-2-negativepatients (x2=0.7,P＜0.01).There were no statistical difference between the two groups in gender,disease duration,arthritis,rash,dysphagia,myasthenia,conccurrence with interstitial lung disease and cancer.In follow-up assessment,among the three JDM patients with anti-NXP-2 autoantibodies,one of them who died 10 months later had increased serum level of anti-NXP-2 autoantibody,extensive subcutaneous calcinosis,severe myasthenia and rapid progress.Conclusion This is the first report of the serum levels of anti-NXP-2 antibodies in Chinese patients with IIM and other CTDs.We find that anti-NXP-2 antibodies only exist in patients with IIM and are associated with early and calcinosis.
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Objective To identify the prevalence of anti-transcriptional intermediary factor (TIF)1-γ antibody in Chinese patients with idiopathic inflammatory myositis and to define its role in the assessment of early diagnosis of cancer associated myositis (CAM) in a large cohort.Methods Sera from 96 Chinese patients with dermatomyositis(DM),50 patients with polymyositis (PM),33 patients with systemic lupus erythem-atosus (SLE),54 patients with rheumatoid arthritis (RA),8 patients with systemic sclerosis (SSc),and 40 healthy controls were examined by immunoprecipitation assays followed by Western blotting.The distribution of these antibodies in each group was assessed and the association between this autoantibody and CAM in a large cohort was further revealed.T test,Mann-Wittney U test,Chi-square test and Fisher exact test were used for statistical analysis.Results Sera from 17 of 96 DM patients (18％),including 1 with juvenile dermatomyositis (JDM) (17％),2 with clinical amyopathic dermatomyositis (CADM) (25％),and 9 with CAM (64％) were found to have anti-TIF1-γ antibody by immunoprecipitation assays followed by Western blotting.Only 1 patient with PM (2％) was observed with anti-TIF1-γ autoantibody,and no patients with other connective tissue disease patients as well as healthy controls were positive for this autoantibody.The risk of -developing CAM in anti-TIF1γ-positive patients was significantly increased compared to the anti-TIF1-γnegative group,with an OR of 17.74 (95％CI,5.68-55.40).In DM,the negative and positive predictive value of anti-TIF1-γ autoantibody for the diagnosis of CAM was 90.8％ and 56.3％,respectively.Anti-TIF1γ-positive DM patients were significantly older than anti-TIF1-γ-negative DM patients (63±11 vs 48 ±14,P＜0.01).Notably,three of the anti-TIF1γ-positive patients had ILD,one patient was classified as having CAM and the other two were DM patients without cancer,but anti-TIF1γ-positive patients still had a significantly lower incidence of interstitial lung disease (19％ vs 54％,P＜0.05).In contrast to anti-TIF1-γγ-negative DM patients,anti-TIF1-γ antibody-positive patients were more frequently (81％ vs 50％,P＜0.01).There was no significant difference between these groups in terms of other clinical and laboratory parameters.Conclusion Anti-TIF1-γ antibodies may act as a useful diagnostic serological marker for early diagnosis of CAM in Chinese patients.For patients with DM,anti-TIF1-γ antibodies should be assessed at the time of disease diagnosis.This antibody may have impo-rtant significance in the early diagnosis of tumor and improving prognosis.