Virchows Archiv

, Volume 472, Issue 3, pp 477–487 | Cite as

Anti-aminoacyl-tRNA synthetase-related myositis and dermatomyositis: clues for differential diagnosis on muscle biopsy

  • Bruna Cerbelli
  • Annalinda Pisano
  • Serena Colafrancesco
  • Maria Gemma Pignataro
  • Marco Biffoni
  • Silvia Berni
  • Antonia De Luca
  • Valeria Riccieri
  • Roberta Priori
  • Guido Valesini
  • Giulia d’Amati
  • Carla Giordano
Original Article
Part of the following topical collections:
  1. Quality in Pathology

Abstract

Anti-synthetase syndrome is an autoimmune disease characterized by autoantibodies toward amino acyl-tRNA synthetases (ARS), anti-Jo 1 being the most commonly detected. Muscle damage develops in up to 90% of ARS-positive patients, characterized by a necrotizing myositis restricted to the perifascicular region. This topographic distribution of muscle damage may lead to a misdiagnosis of dermatomyositis (DM) at muscle biopsy. We compared morphological, immunohistochemical, and histoenzymatic features of muscle from ARS-positive patients (n = 11) with those of DM (n = 7) providing clues for their differential diagnosis. In addition, we evaluated markers of mitochondrial damage to provide a further distinction between these two entities. Necrosis occurred in the majority of ARS patients, mainly located in the perifascicular region. It was often limited to small foci of fibers, always associated with myocyte regeneration. This last often overwhelmed necrosis, representing occasionally the main finding. In DM, necrosis/regeneration was scarce while the peculiar feature was a diffuse atrophy of perifascicular fibers. These last showed decreased cytochrome c oxidase (COX) stain and mitochondrial DNA depletion, consistent with mitochondrial dysfunction. In contrast to DM, ARS displayed scattered COX-deficient fibers, not restricted to the perifascicular region. This feature occurred in up to 91% of patients, being prominent only in two.

Keywords

Myositis Anti-synthetase syndrome Dermatomyositis Muscle biopsy mtDNA damage 

Notes

Compliance with ethical standards

The authors declare that the study has been done according to ethical standards.

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

428_2017_2269_MOESM1_ESM.ppt (2 mb)
ESM 1 (PPT 1998 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  • Bruna Cerbelli
    • 1
  • Annalinda Pisano
    • 1
  • Serena Colafrancesco
    • 2
  • Maria Gemma Pignataro
    • 1
  • Marco Biffoni
    • 3
  • Silvia Berni
    • 1
  • Antonia De Luca
    • 1
  • Valeria Riccieri
    • 2
  • Roberta Priori
    • 2
  • Guido Valesini
    • 2
  • Giulia d’Amati
    • 1
  • Carla Giordano
    • 1
  1. 1.Department of Radiological, Oncological and Pathological SciencesSapienza University of RomeRomeItaly
  2. 2.Department of Internal Medicine and Medical Specialties, Rheumatology UnitSapienza University of RomeRomeItaly
  3. 3.Department of Surgical ScienceSapienza University of RomeRomeItaly

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