肉芽肿性肌炎的肌病病理和免疫特征

IF 2.8 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2025-09-01 DOI:10.1016/j.nmd.2025.105486

M. Holzer , N. Ruffer , I. Pinal-Fernandez , F. Kleefeld , H. Goebel , A. Schänzer , M. Casal-Dominguez , I. Kötter , N. Görl , R. Alten , E. Braasch , T. Lempert , A. Krause , T. Huber , T. Liewluck , A. Mammen , W. Stenzel , C. Preuße , U. Schneider , M. Krusche

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引用次数: 0

摘要

肉瘤样肌病（SaM）以肉芽肿性肌炎为特征，可与包涵体肌炎（IBM）重叠，后者是一种迟发性慢性特发性炎症性肌病，发病机制尚不清楚。评估SaM肌肉病理特征的系统研究很少，SaM肌肉炎症的免疫发病机制也知之甚少。在这种情况下，我们对“纯SaM”、SaM合并IBM （SaM-IBM）和“纯IBM”患者的肌肉活检标本进行了多维表征，包括组织病理学和超微结构分析以及分子谱分析。肌病理分析显示SaM的典型表现为肌内膜和膜周肉芽肿性炎症，常延伸至筋膜，肌内膜纤维化，肌纤维萎缩，肌纤维大小变化和毛细血管增厚。免疫组化研究结果证实几丁质酶1是SaM中纯粹的巨细胞标志物。此外，SaM的特点是疾病特异性免疫失调，涉及巨噬细胞功能和成熟。最后，SaM- ibm代表了一种值得注意的重叠综合征，它与“纯SaM”共享多种失调的免疫途径。

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23PMyopathology and immune profile of granulomatous myositis in sarcoid myopathy

Sarcoid myopathy (SaM) is characterized by granulomatous myositis and can overlap with inclusion body myositis (IBM), a late-onset chronic idiopathic inflammatory myopathy with a still enigmatic pathogenesis. Systematic studies assessing the myopathologic features of SaM are scarce and the immunopathogenesis of muscle inflammation in SaM is poorly understood. In this context, we performed a multidimensional characterization of muscle biopsy specimens from patients with ‘pure SaM’, SaM with concomitant IBM (SaM-IBM) and ‘pure IBM’ including histopathologic and ultrastructural analysis in addition to molecular profiling. Myopathologic analysis revealed a prototypical appearance of SaM that is characterized by endomysial and perimysial granulomatous inflammation frequently extending to the fascia, endomysial fibrosis, muscle fibre atrophy, variations of muscle fibre size and capillary thickening. Findings from immunohistochemical studies established Chitinase 1 as a pure giant cell marker in SaM. In addition, SaM is characterized by disease-specific immune dysregulation that involves macrophage function and maturation. Finally, SaM-IBM represents a noteworthy overlap syndrome that shares multiple dysregulated immune pathways with ‘pure SaM’.

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.