Association of Preoperative Diagnosis with Clinical Yield of Muscle Biopsy

Abstract

Background: Muscle biopsy is a common diagnostic marker for myopathy assessment; however, it has a relatively low pathologic yield of less than 60%. Additionally, both diagnostic and non-diagnostic muscle biopsies can provide guidance for treatment, i.e, provide therapeutic usefulness.Purpose: We designed a study to determine if having a documented definitive preoperative differential diagnosis would affect the pathologic yield and therapeutic usefulness of muscle biopsies for myopathy. Methods: This was a retrospective, single institution chart review of 106 consecutive muscle biopsies in adult patients, which looked at the presence or absence of a definitive preoperative differential diagnosis and relation to diagnostic yield and therapeutic usefulness of muscle biopsies. Results: Of 106 muscle biopsies, 50 biopsies (47%) had a definitive preoperative differential diagnosis, 52 biopsies (49%) returned definitive pathology, and 93 biopsies (88%) provided therapeutic information. The presence of a documented differential diagnosis increased the odds of pathologic yield by 3.73 (p-value < 0.01) and therapeutic usefulness by 3.40 (p-value 0.08). If pathology was diagnostic then the therapeutic usefulness of the biopsy was 4.54 times more likely (p-value < 0.01). Conclusion: Documentation of a definitive preoperative differential diagnosis, when pursuing muscle biopsy for myopathy, is associated with an increased pathologic diagnostic yield. Definitive pathology was associated with an increase in the therapeutic usefulness of the muscle biopsy.

Neuromuscular Disorders: A Histomorphological and Clinicopathological Evaluation in a Tertiary Care Centre

“…Paediatric population comprise 26% only, although neuromuscular disorders have higher prevalence in paediatric age group. [9] This is because many clinicians and patients opt for non-invasive molecular tests for diagnosis of these disorders as also observed by Manisha et al [10] in her study.…”

“…The integration of prebiopsy workup with clinical features, lab finding adds to diagnostic value in suspected cases of myopathy. [11] Tenny et al [9] also documented that biopsy provides a sensitivity of 63%. Change in the prebiopsy diagnosis was observed in the study due to false positive (n=31) and false negative (n=16) cases.…”

Muscle Biopsy: A Requirement for Precision Medicine in Adult-Onset Myopathy

“…To sum up, our results suggested that with a careful, completed protocol, muscle biopsy provides high diagnostic value in precision diagnosis for clinically indistinguishable adult-onset myopathies [ 17 , 18 , 21 , 23 , 59 , 63 , 65 , 66 , 67 ]. This study analyzed the change of the latest IIMs subtypes before and after muscle biopsy.…”

“…However, with the refined classifications of myopathy, the advances in serology studies, staining markers, high throughput molecular diagnosis, and corresponding treatments, muscle pathology became necessary for precision diagnosis and treatment. With an optimized protocol, the diagnostic yields in adult myopathy can be raised from around 50% to 85%, which guides the subsequent precision treatments [ 19 , 21 , 47 ].…”

“…Achievements in high throughput genomic technologies, such as whole exome sequence, in conjunction with the advances in molecular studies, have increased the diagnostic yield for hereditary myopathies [ 7 , 8 , 9 , 10 , 11 ] and facilitated the re-classification of limb-girdle muscle dystrophy [ 12 , 13 , 14 , 15 , 16 ]. Although the aforementioned improvements brought about a more precise pre-biopsy diagnosis of myopathy, the essential role of muscle biopsy in the final diagnosis may still not be substituted [ 17 , 18 , 19 , 20 , 21 ].…”