A pattern-based approach to the interpretation of skeletal muscle biopsies

Chunyu Cai, Douglas C. Anthony, Peter Pytel

Research output: Contribution to journalReview article

Abstract

The interpretation of muscle biopsies is complex and provides the most useful information when integrated with the clinical presentation of the patient. These biopsies are performed for workup of a wide range of diseases including dystrophies, metabolic diseases, and inflammatory processes. Recent insights have led to changes in the classification of inflammatory myopathies and have changed the role that muscle biopsies have in the workup of inherited diseases. These changes will be reviewed. This review follows a morphology-driven approach by discussing diseases of skeletal muscle based on a few basic patterns that include cases with (1) active myopathic damage and inflammation, (2) active myopathic damage without associated inflammation, (3) chronic myopathic changes, (4) myopathies with distinctive inclusions or vacuoles, (5) biopsies mainly showing atrophic changes, and (6) biopsies that appear normal on routine preparations. Each of these categories goes along with certain diagnostic considerations and pitfalls. Individual biopsy features are only rarely pathognomonic. Establishing a firm diagnosis therefore typically requires integration of all of the biopsy findings and relevant clinical information. With this approach, a muscle biopsy can often provide helpful information in the diagnostic workup of patients presenting with neuromuscular problems.

Original languageEnglish (US)
Pages (from-to)462-483
Number of pages22
JournalModern Pathology
Volume32
Issue number4
DOIs
StatePublished - Apr 1 2019

Fingerprint

Skeletal Muscle
Biopsy
Muscles
Inflammation
Myositis
Metabolic Diseases
Muscular Diseases
Vacuoles

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

A pattern-based approach to the interpretation of skeletal muscle biopsies. / Cai, Chunyu; Anthony, Douglas C.; Pytel, Peter.

In: Modern Pathology, Vol. 32, No. 4, 01.04.2019, p. 462-483.

Research output: Contribution to journalReview article

Cai, Chunyu ; Anthony, Douglas C. ; Pytel, Peter. / A pattern-based approach to the interpretation of skeletal muscle biopsies. In: Modern Pathology. 2019 ; Vol. 32, No. 4. pp. 462-483.
@article{0d5dc6c59c27440680078e462a15207b,
title = "A pattern-based approach to the interpretation of skeletal muscle biopsies",
abstract = "The interpretation of muscle biopsies is complex and provides the most useful information when integrated with the clinical presentation of the patient. These biopsies are performed for workup of a wide range of diseases including dystrophies, metabolic diseases, and inflammatory processes. Recent insights have led to changes in the classification of inflammatory myopathies and have changed the role that muscle biopsies have in the workup of inherited diseases. These changes will be reviewed. This review follows a morphology-driven approach by discussing diseases of skeletal muscle based on a few basic patterns that include cases with (1) active myopathic damage and inflammation, (2) active myopathic damage without associated inflammation, (3) chronic myopathic changes, (4) myopathies with distinctive inclusions or vacuoles, (5) biopsies mainly showing atrophic changes, and (6) biopsies that appear normal on routine preparations. Each of these categories goes along with certain diagnostic considerations and pitfalls. Individual biopsy features are only rarely pathognomonic. Establishing a firm diagnosis therefore typically requires integration of all of the biopsy findings and relevant clinical information. With this approach, a muscle biopsy can often provide helpful information in the diagnostic workup of patients presenting with neuromuscular problems.",
author = "Chunyu Cai and Anthony, {Douglas C.} and Peter Pytel",
year = "2019",
month = "4",
day = "1",
doi = "10.1038/s41379-018-0164-x",
language = "English (US)",
volume = "32",
pages = "462--483",
journal = "Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc",
issn = "0893-3952",
publisher = "Nature Publishing Group",
number = "4",

}

TY - JOUR

T1 - A pattern-based approach to the interpretation of skeletal muscle biopsies

AU - Cai, Chunyu

AU - Anthony, Douglas C.

AU - Pytel, Peter

PY - 2019/4/1

Y1 - 2019/4/1

N2 - The interpretation of muscle biopsies is complex and provides the most useful information when integrated with the clinical presentation of the patient. These biopsies are performed for workup of a wide range of diseases including dystrophies, metabolic diseases, and inflammatory processes. Recent insights have led to changes in the classification of inflammatory myopathies and have changed the role that muscle biopsies have in the workup of inherited diseases. These changes will be reviewed. This review follows a morphology-driven approach by discussing diseases of skeletal muscle based on a few basic patterns that include cases with (1) active myopathic damage and inflammation, (2) active myopathic damage without associated inflammation, (3) chronic myopathic changes, (4) myopathies with distinctive inclusions or vacuoles, (5) biopsies mainly showing atrophic changes, and (6) biopsies that appear normal on routine preparations. Each of these categories goes along with certain diagnostic considerations and pitfalls. Individual biopsy features are only rarely pathognomonic. Establishing a firm diagnosis therefore typically requires integration of all of the biopsy findings and relevant clinical information. With this approach, a muscle biopsy can often provide helpful information in the diagnostic workup of patients presenting with neuromuscular problems.

AB - The interpretation of muscle biopsies is complex and provides the most useful information when integrated with the clinical presentation of the patient. These biopsies are performed for workup of a wide range of diseases including dystrophies, metabolic diseases, and inflammatory processes. Recent insights have led to changes in the classification of inflammatory myopathies and have changed the role that muscle biopsies have in the workup of inherited diseases. These changes will be reviewed. This review follows a morphology-driven approach by discussing diseases of skeletal muscle based on a few basic patterns that include cases with (1) active myopathic damage and inflammation, (2) active myopathic damage without associated inflammation, (3) chronic myopathic changes, (4) myopathies with distinctive inclusions or vacuoles, (5) biopsies mainly showing atrophic changes, and (6) biopsies that appear normal on routine preparations. Each of these categories goes along with certain diagnostic considerations and pitfalls. Individual biopsy features are only rarely pathognomonic. Establishing a firm diagnosis therefore typically requires integration of all of the biopsy findings and relevant clinical information. With this approach, a muscle biopsy can often provide helpful information in the diagnostic workup of patients presenting with neuromuscular problems.

UR - http://www.scopus.com/inward/record.url?scp=85056114250&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85056114250&partnerID=8YFLogxK

U2 - 10.1038/s41379-018-0164-x

DO - 10.1038/s41379-018-0164-x

M3 - Review article

C2 - 30401945

AN - SCOPUS:85056114250

VL - 32

SP - 462

EP - 483

JO - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

JF - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

SN - 0893-3952

IS - 4

ER -