Genetic Influences in Cancer-Associated Myositis.

Idiopathic inflammatory myopathies (IIMs) comprise a heterogeneous group of rare immune-mediated disorders that primarily affect muscles but also lead to dysfunction in other organs. Five different clinical subphenotypes of IIM have been distinguished: dermatomyositis, polymyositis, inclusion body myositis, antisynthetase syndrome, and immune-mediated necrotizing myopathy. Excess mortality and morbidity associated with IIM are largely attributed to comorbidities, particularly cancer. The risk of malignancy is not equally distributed among IIM groups and is particularly high among patients with dermatomyositis. The cancer risk peaks around 3 years on either side of the IIM diagnosis and remains elevated even 10 years after the onset of the disease. Lung, colorectal, and ovarian neoplasms typically arise before the onset of IIM, whereas melanoma, cervical, oropharyngeal, and nonmelanoma skin cancers usually develop after IIM diagnosis. Given the close temporal proximity between IIM diagnosis and the emergence of malignancy, it has been proposed that IIM could be a consequence rather than a cause of cancer, a process known as a paramalignant phenomenon. Thus, a separate group of IIMs related to paramalignant phenomenon has been distinguished, known as cancer-associated myositis (CAM). Although the relationship between IIM and cancer is widely recognized, the pathophysiology of CAM remains elusive. Given that genetic factors play a role in the development of IIM, dissection of the molecular mechanisms shared between IIM and cancer presents an opportunity to examine the role of autoimmunity in cancer development and progression. In this review, the evidence supporting the contribution of genetics to CAM will be discussed.

Patasova K ，Lundberg IE ，Holmqvist M 《-》

Classification of idiopathic inflammatory myopathies: pathology perspectives.

Tanboon J ，Nishino I 《-》

Lymphocyte immunophenotyping in inflammatory myositis: a review.

This is a comprehensive review of the current knowledge on predominant immune cell phenotypes involved in idiopathic inflammatory myopathies (IIM). Major circulating immune cell subpopulations described in IIM encompass the lymphocyte compartment. An unbalance in T cell subsets seems to consistently affect the peripheral and muscle compartment, with a predominance of CD4+ T and B cells in dermatomyositis, CD8+ T cells in polymyositis/inclusion body myositis (IBM) and novel findings highlighting novel proinflammatory T subsets, that is, CD8+Tbet+ and CD28- T cells across different IIM subsets. On the other hand, an impairment in Treg cells number and function has been described especially across polymyositis/dermatomyositis and IBM. Total T follicular helper (Tfh) cells, increased in immune-mediated necrotizing myopathy, skewed toward Tfh2 and Tfh17 in dermatomyositis, polymyositis, and juvenile dermatomyositis. B cell compartment is more rarely described in IIM, yet an unbalance in this pool is as well likely. Evidence of plasma cells increased in polymyositis, dermatomyositis, IBM, and Bregs decreased in dermatomyositis have been reported. Perturbations in the memory and naïve subsets are common in dermatomyositis/polymyositis and antisynthetase syndrome. Protean immune cell abnormalities characterize different IIM subsets, reflecting the complexity of these autoimmune conditions. A deeper understanding of B-cell and T-cell immunophenotyping may promote early diagnosis and identification of new potential therapeutic targets.

Franco C ，Gatto M ，Iaccarino L ，Ghirardello A ，Doria A ... -  《-》

[Myositis: From classification to diagnosis].

Idiopathic inflammatory myopathies, or IIM, are a group of acquired diseases that affect the muscle to a certain extent, and may also affect other organs. They include dermatomyositis, which can affect the muscle eventualy, with a typical skin rash; inclusion body myositis, with a purely muscular expression resulting in a slow progressive deficit; and the former group of "polymyositis", a misnomer that actually includes other categories of IIM, such as immune-mediated necrotizing myopathies, with a severe muscle involvement often presents from the onset of the disease; antisynthetase syndrome, which combines muscle damage, joint involvement and a potentially life-threatening lung disease; and overlapping myositis, which combines muscle damage with other organs involvement connected to another autoimmune disease. The diagnosis of IIM is based on rigorous clinical examination and interrogation, electromyographic data and immunological testing for myositis specific antibodies. This antibody dosage must be extended or repeated if necessary to classify correctly the muscle disease under investigation, as the available tests may not perform well enough. Muscle biopsy, although very informative, is not anymore systematically recommended when the clinic and the antibodies are typical. However, some forms of IIM are sometimes difficult to classify; in these cases, muscle biopsy plays a crucial role in the precise etiological diagnosis.

Fer F ，Allenbach Y ，Benveniste O 《-》

Idiopathic inflammatory myopathies.

The idiopathic inflammatory myopathies (IIM) consist of rare heterogeneous autoimmune disorders that present with marked proximal and symmetric muscle weakness, except for distal and asymmetric weakness in inclusion body myositis. Despite many similarities, the IIM are fairly heterogeneous from the histopathologic and pathogenetic standpoints, and also show some clinical and treatment-response differences. The field has witnessed significant advances in our understanding of the pathophysiology and treatment of these rare disorders. This review focuses on dermatomyositis, polymyositis, and necrotizing myopathy, and examines current and promising therapies.

Dimachkie MM ，Barohn RJ ，Amato AA 《-》