Surgical and Experimental Pathology (2021-01-01)

Muscle biopsy essential diagnostic advice for pathologists

  • Ana Cotta,
  • Elmano Carvalho,
  • Antonio Lopes da-Cunha-Júnior,
  • Jaquelin Valicek,
  • Monica M. Navarro,
  • Sidney Baptista Junior,
  • Eni Braga da Silveira,
  • Maria Isabel Lima,
  • Bruno Arrivabene Cordeiro,
  • Alexandre Faleiros Cauhi,
  • Miriam Melo Menezes,
  • Simone Vilela Nunes,
  • Antonio Pedro Vargas,
  • Rafael Xavier Neto,
  • Julia Filardi Paim

DOI
https://doi.org/10.1186/s42047-020-00085-w
Journal volume & issue
Vol. 4, no. 1
pp. 1 – 20

Abstract

Read online

Abstract Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances in genetic analysis have profoundly modified Myopathology diagnosis. Main body The main goals of this review are: (1) to describe muscle biopsy techniques for non specialists; (2) to provide practical information for the team involved in the diagnosis of muscle diseases; (3) to report fundamental rules for muscle biopsy site choice and adequacy; (4) to highlight the importance of liquid nitrogen in diagnostic workup. Routine techniques include: (1) histochemical stains and reactions; (2) immunohistochemistry and immunofluorescence; (3) electron microscopy; (4) mitochondrial respiratory chain enzymatic studies; and (5) molecular studies. The diagnosis of muscle disease is a challenge, as it should integrate data from different techniques. Conclusion Formalin-fixed paraffin embedded muscle samples alone almost always lead to inconclusive or unspecific results. Liquid nitrogen frozen muscle sections are imperative for neuromuscular diagnosis. Muscle biopsy interpretation is possible in the context of detailed clinical, neurophysiological, and serum muscle enzymes data. Muscle imaging studies are strongly recommended in the diagnostic workup. Muscle biopsy is useful for the differential diagnosis of immune mediated myopathies, muscular dystrophies, congenital myopathies, and mitochondrial myopathies. Muscle biopsy may confirm the pathogenicity of new gene variants, guide cost-effective molecular studies, and provide phenotypic diagnosis in doubtful cases. For some patients with mitochondrial myopathies, a definite molecular diagnosis may be achieved only if performed in DNA extracted from muscle tissue due to organ specific mutation load.

Keywords