Akinori Uruha1, Atsuko Nishikawa1, Rie S Tsuburaya1, Kohei Hamanaka1, Masataka Kuwana1, Yurika Watanabe1, Shigeaki Suzuki1, Norihiro Suzuki1, Ichizo Nishino2. 1. From the Department of Genome Medicine Development (A.U., A.N., K.H., I.N.), Medical Genome Center, and Department of Neuromuscular Research (A.U., A.N., R.S.T., K.H., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Education (A.N.), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi; Department of Pediatric Neurology (R.S.T.), National Hospital Organization, Utano National Hospital; Department of Neurology (K.H.), Graduate School of Medicine, Kyoto University; Department of Allergy and Rheumatology (M.K.), Nippon Medical School Graduate School of Medicine; and Division of Rheumatology (M.K.), Department of Internal Medicine, and Department of Neurology (Y.W., S.S., N.S.), Keio University School of Medicine, Tokyo, Japan. 2. From the Department of Genome Medicine Development (A.U., A.N., K.H., I.N.), Medical Genome Center, and Department of Neuromuscular Research (A.U., A.N., R.S.T., K.H., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Education (A.N.), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi; Department of Pediatric Neurology (R.S.T.), National Hospital Organization, Utano National Hospital; Department of Neurology (K.H.), Graduate School of Medicine, Kyoto University; Department of Allergy and Rheumatology (M.K.), Nippon Medical School Graduate School of Medicine; and Division of Rheumatology (M.K.), Department of Internal Medicine, and Department of Neurology (Y.W., S.S., N.S.), Keio University School of Medicine, Tokyo, Japan. nishino@ncnp.go.jp.
Abstract
OBJECTIVE: To evaluate the diagnostic value of myxovirus resistance A (MxA) expression in the cytoplasm of myofibers in the diagnosis of dermatomyositis (DM). METHODS: We assessed the sensitivity and specificity of the sarcoplasmic expression of MxA in muscles with DM by immunohistochemistry in consecutive cases of DM (n = 34) and other idiopathic inflammatory myopathies (n = 120: 8 with polymyositis, 16 with anti-tRNA-synthetase antibody-associated myositis, 46 with immune-mediated necrotizing myopathy, and 50 with inclusion body myositis) and compared them with conventional pathologic hallmarks of DM, including perifascicular atrophy (PFA) and membrane attack complex (MAC) deposition on endomysial capillaries. RESULTS: The sensitivity and specificity of sarcoplasmic MxA expression were 71% and 98%, respectively. While the specificity was almost comparable to that of PFA and capillary MAC deposition, the sensitivity was higher, with PFA showing 47% sensitivity and 98% specificity and capillary MAC deposition showing 35% sensitivity and 93% specificity. Of note, in patients with DM with typical skin rash but no PFA, 44% of the samples showed sarcoplasmic MxA expression, which was higher than the 17% sensitivity of capillary MAC deposition in the population. CONCLUSIONS: Sarcoplasmic MxA expression detected by immunohistochemistry is a more sensitive marker of DM than the conventional hallmarks, indicating its practical utility in the diagnosis of DM. It may well be included in the routine immunohistochemistry panel for myositis. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that immunohistochemistry-detected sarcoplasmic MxA expression accurately identifies patients with dermatomyositis.
OBJECTIVE: To evaluate the diagnostic value of myxovirus resistance A (MxA) expression in the cytoplasm of myofibers in the diagnosis of dermatomyositis (DM). METHODS: We assessed the sensitivity and specificity of the sarcoplasmic expression of MxA in muscles with DM by immunohistochemistry in consecutive cases of DM (n = 34) and other idiopathic inflammatory myopathies (n = 120: 8 with polymyositis, 16 with anti-tRNA-synthetase antibody-associated myositis, 46 with immune-mediated necrotizing myopathy, and 50 with inclusion body myositis) and compared them with conventional pathologic hallmarks of DM, including perifascicular atrophy (PFA) and membrane attack complex (MAC) deposition on endomysial capillaries. RESULTS: The sensitivity and specificity of sarcoplasmic MxA expression were 71% and 98%, respectively. While the specificity was almost comparable to that of PFA and capillary MAC deposition, the sensitivity was higher, with PFA showing 47% sensitivity and 98% specificity and capillary MAC deposition showing 35% sensitivity and 93% specificity. Of note, in patients with DM with typical skin rash but no PFA, 44% of the samples showed sarcoplasmic MxA expression, which was higher than the 17% sensitivity of capillary MAC deposition in the population. CONCLUSIONS: Sarcoplasmic MxA expression detected by immunohistochemistry is a more sensitive marker of DM than the conventional hallmarks, indicating its practical utility in the diagnosis of DM. It may well be included in the routine immunohistochemistry panel for myositis. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that immunohistochemistry-detected sarcoplasmic MxA expression accurately identifies patients with dermatomyositis.
Authors: Iago Pinal-Fernandez; Maria Casal-Dominguez; Assia Derfoul; Katherine Pak; Paul Plotz; Frederick W Miller; Jose C Milisenda; Josep M Grau-Junyent; Albert Selva-O'Callaghan; Julie Paik; Jemima Albayda; Lisa Christopher-Stine; Thomas E Lloyd; Andrea M Corse; Andrew L Mammen Journal: Neurology Date: 2019-08-21 Impact factor: 9.910