Gene Expression Profile of Inflammatory Myopathy with Malignancy is Similar to that of Dermatomyositis rather than Polymyositis

Noda, Tomoko; Iijima, Masahiro; Noda, Seiya; Maeshima, Shinya; Nakanishi, Hiroyuki; Kimura, Seigo; Koike, Haruki; Ishigaki, Shinsuke; Iguchi, Yohei; Katsuno, Masahisa; Sobue, Gen

doi:10.2169/internalmedicine.55.6706

Cited by 8 publications

(7 citation statements)

References 36 publications

(38 reference statements)

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“…OASL and EPSTI1 were increased in skin, muscle, and untreated PBMCs in our study. Another study used Agilent microarrays to analyze the transcriptome of muscle biopsies from 3 adult dermatomyositis patients and 5 controls 49 . The muscle showed an increase in the gene MX1 , but its gene ontologies were not as enriched for interferon specifically.…”

Section: Discussionmentioning

confidence: 99%

Transcriptomes of peripheral blood mononuclear cells from juvenile dermatomyositis patients show elevated inflammation even when clinically inactive

Roberson

Mesa

Morgan

et al. 2022

Sci Rep

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In juvenile dermatomyositis (JDM), the most common pediatric inflammatory myopathy, weakness is accompanied by a characteristic rash that often becomes chronic and is associated with vascular damage. We hoped to understand the molecular underpinnings of JDM, particularly when untreated, which would facilitate the identification of novel mechanisms and clinical targets that might disrupt disease progression. We studied the RNA-Seq data from untreated JDM peripheral blood mononuclear cells (PBMCs; n = 11), PBMCs from a subset of the same patients when clinically inactive (n = 8/11), and separate samples of untreated JDM skin and muscle (n = 4 each). All JDM samples were compared to non-inflammatory control tissues. The untreated JDM PBMCs showed a strong signature for type1 interferon response, along with IL-1, IL-10, and NF-κB. Surprisingly, PBMCs from clinically inactive JDM individuals had persistent immune activation that was enriched for IL-1 signaling. JDM skin and muscle both showed evidence for type 1 interferon activation and genes related to antigen presentation and decreased expression of cellular respiration genes. Additionally, we found that PBMC gene expression correlates with disease activity scores (DAS; skin, muscle, and total domains) and with nailfold capillary end row loop number (an indicator of microvascular damage). This included otoferlin, which was significantly increased in untreated JDM PBMCs and correlated with all 3 DAS domains. Overall, these data demonstrate that PBMC transcriptomes are informative of molecular disruptions in JDM and provide transcriptional evidence of chronic inflammation despite clinical quiescence.

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Section: Discussionmentioning

confidence: 99%

Transcriptomes of peripheral blood mononuclear cells from juvenile dermatomyositis patients show elevated inflammation even when clinically inactive

Roberson

Mesa

Morgan

et al. 2022

Sci Rep

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“…Absent myositis-specific/associated autoantibodies and positive anti-155/140 antibody, anti-SAE1, anti-TIF1-γ and anti-NXP2 antibodies are associated with a high risk of CAM [ [175] , [176] , [177] ]. Moreover, the gene expression profile of IIM with malignancy is similar to that of DM rather than PM, which suggests that humoral immunity plays a significant role in PM/DM [ 178 ].…”

Section: Clinical Featuresmentioning

confidence: 99%

Polymyositis and dermatomyositis – challenges in diagnosis and management

Yang

Chang

Lian

2019

Journal of Translational Autoimmunity

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Polymyositis (PM) and dermatomyositis (DM) are different disease subtypes of idiopathic inflammatory myopathies (IIMs). The main clinical features of PM and DM include progressive symmetric, predominantly proximal muscle weakness. Laboratory findings include elevated creatine kinase (CK), autoantibodies in serum, and inflammatory infiltrates in muscle biopsy. Dermatomyositis can also involve a characteristic skin rash. Both polymyositis and dermatomyositis can present with extramuscular involvement. The causative factor is agnogenic activation of immune system, leading to immunologic attacks on muscle fibers and endomysial capillaries. The treatment of choice is immunosuppression. PM and DM can be distinguished from other IIMs and myopathies by thorough history, physical examinations and laboratory evaluation and adherence to specific and up-to-date diagnosis criteria and classification standards. Treatment is based on correct diagnosis of these conditions.

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“…The type of malignancy also varies among patients, and adenocarcinoma of the ovary, lung, or gastrointestinal tract, melanoma and non-Hodgkins lymphoma are the most common types of malignancy among patients with DM in Western countries ( 10 , 11 ). In contrast, nasopharyngeal cancer is the predominant cancer associated with DM in Asian regions, including Hong Kong, Taiwan, southern China, and southeast Asia, as well as in north Africa; other types of cancer that are common in these regions are cancers of the lung, breast, stomach, ovary, liver and lymph nodes ( 5 , 12 , 13 ). Thus, the distribution of malignancy varies with geographic region and ethnicity.…”

Section: Introductionmentioning

confidence: 99%

Characteristics and predictors of malignancy in dermatomyositis: Analysis of 239 patients from northern China

Liu

et al. 2018

Oncol Lett

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The present study aimed to determine the characteristics of patients with dermatomyositis (DM) in order to identify predictors of cancer in these patients. Data of 239 patients with DM, treated at Yuhuangding Hospital between 1997 and 2016, was retrospectively assessed. The patients' demographic, clinical, survival and laboratory data were analyzed. Of the 239 patients, 43 developed malignancies. In 30 (69.77%) patients, the malignancy was detected within 1 year before or after DM diagnosis. There were 15 (34.88%) fatalities. Lung cancer was the most common type of malignancy identified (n=6, 13.95%), and adenocarcinoma was the most common pathological type (n=6, 13.95%). Older age, absence of interstitial lung disease, and absence of arthralgia were demonstrated to be independent risk factors for malignancy. Myositis-specific autoantibody expression, specifically anti-TIF1γ positivity and/or anti-MDA5 negativity, was associated with cancer in patients with DM. The survival rate was significantly lower in patients with malignancy than in patients without malignancy. Patients with DM had a high incidence of malignancy and a poor prognosis. Lung cancer and adenocarcinoma are common among patients with DM in northern China. Cancer screening should be conducted in all DM patients, particularly within 1 year of DM diagnosis. Older age is a risk factor for malignancy in DM patients, while interstitial lung disease and arthralgia are protective factors. Myositis-specific autoantibody detection may be useful for cancer screening in patients with DM.

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Gene Expression Profile of Inflammatory Myopathy with Malignancy is Similar to that of Dermatomyositis rather than Polymyositis

Cited by 8 publications

References 36 publications

Transcriptomes of peripheral blood mononuclear cells from juvenile dermatomyositis patients show elevated inflammation even when clinically inactive

Transcriptomes of peripheral blood mononuclear cells from juvenile dermatomyositis patients show elevated inflammation even when clinically inactive

Polymyositis and dermatomyositis – challenges in diagnosis and management

Characteristics and predictors of malignancy in dermatomyositis: Analysis of 239 patients from northern China

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