Friday, June 28, 2013

Dr. Mike Lawlor's Proposed Muscle Biopsy Checklist

Comments are encouraged!!!!

Clinical History
1.  Gender of patient:    __male ___female
2.  Age at presentation:  _ _ years _ _ months
3.  Age at biopsy: _ _ years _ _ months
4.  Symptoms at presentation (check all that apply):
 Muscle pain
 Cardiac disease
 Central nervous system disease
 Respiratory difficulties
 Failure to thrive
 Others (see item 8)
5.  Elevated creatine kinase:  Yes  No  Unknown _______ Patient Value _________(Normal Range)
6.  Familial Inheritance:____None      ___Autosomal Recessive     ____Autosomal Dominant     ____X-linked
7.  EMG Findings: ____Not known        ____Myopathic              ____Neuropathic
8.  Other symptoms, signs, and lab data: ____________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________________

Muscle Biopsy Tissue Information

1.            Name of Muscle:___________________________________________________________________

2.            Size of tissue collected*:  ______  X  ______   X  ______ cm

3.            Date of tissue collection*:        __ __ / __ __ / __ __ __ __
                                                m  m     d   d     y   y   y   y

4.            Biopsy method:  Open         Needle

5.            Freezing or Fixation Used*?      Frozen:                   Amount: _____ mg     Not known
 Formalin-fixed:         Amount: _____ mg     Not known
 Paraffin-embedded: Amount: _____ mg     Not known      
 Epon-embedded:      Amount: _____ mg     Not known

Histological Findings in Muscle Biopsy or Autopsy specimens

1.       Which standard histochemical stains were used*? (choose all that apply)
 H and E                   Gomori trichrome      NADH         COX            SDH
 COX/SDH                PAS                        Oil Red O     ATPase 4.3  ATPase 4.6
 ATPase 9.4              Other, specify: __________________________________________________________________________________________________________________________________________________________________________________

2.       Which of the following diagnostic abnormalities were noted on histochemical stains (choose all that apply)*?
Fatty replacement                ___absent         ___mild             ___moderate                 ___severe
Endomysial fibrosis              ___absent         ___mild             ___moderate                 ___severe
Myofiber degeneration                      ___absent         ___mild             ___moderate                 ___severe
Necrosis                             ___absent         ___mild             ___moderate                 ___severe
Myophagocytosis                 ___absent         ___present in ____ fibers
Myofiber regeneration (Basophilic fibers)        ____absent       ___present in _____ fibers
Abnormalities of fiber type          ____absent       _____present
Specify*:      Type 1 predominance                       ______ % Type 1 fibers
 Type 2 predominance                 ______% Type 2 fibers
 Fiber type grouping (of both fiber types)
Hypertrophic fibers               ____absent       _____present in _____ fibers
Atrophy/Hypotrophy                   ____absent       _____present
Specify:       All fibers within the specimen          
 Subsets of fibers, leading to excessive variation in fiber size
Specify (choose all that apply):    Single fibers                         Groups of fibers      
                                     Type 1 fibers only     Type 2 fibers only
Perifascicular distribution
             Atrophic/hypotrophic fiber shape
 Angulated     Round    
Myopathy-associated pathological structures, specify:     
Central nuclei                _____absent      _____present
Specify estimated % of fibers (include eccentric nuclei): _____
            Internal nuclei                _____absent      _____present
Specify estimated % of fibers (if not quantified above): _____
Inclusion bodies             ____absent       ____present in _____ fibers
Rimmed vacuoles                      ____absent       ____present in _____ fibers
            Nemaline rods               ____absent       ____present
Specify:             Restricted to one fiber type, specify which: _____     
                                                 Nuclear rods present
Ragged red fibers                      ____absent       ____present in _____fibers
COX- negative fibers                  Estimated number ______
Strongly SDH-reactive blood vessels (SSV’s)                  _____absent      _____present
Central cores                 ____absent       ____present in _____ fibers
            Minicores                      ____absent       ____present in ____ fibers
            Core-like lesions            ____absent       ____present in ____ fibers
            Targetoid fibers              ____absent       ____present in ____ % of fibers
            Marked hypotrophy of type 1 fibers                      ____absent       ____present
Inflammation                 ___absent         ___mild             ___moderate                 ___severe
                               Evidence of vascular damage            Thrombi identified in blood vessels
 Involving fascia
             Associated with myofiber damage
              Associated with non-necrotic myofiber
                        Necrotizing   Non-necrotizing   Giant cells present    Foreign material present
             Inflammatory cells identified
                        Specify (choose all that apply):
                         Eosinophils (as a prominent component)
                         Microorganisms identified, specify which: _________________________________________
Abnormal storage material
                        Excessive glycogen                    ____absent      ____mild           ____severe
                        Excessive intracellular lipid         ____absent       ____mild           ____severe
Additional observations

3.       Which immunohistochemical stains were used? (choose all that apply)
 Myosin immunohistochemistry (for fast and slow fibers)         
 Dystrophin panel
                        Dystrophin (DYS1)         ____absent       ____reduced      ____normal
                        Dystrophin (DYS2)         ____absent       ____reduced      ____normal
                        Dystrophin (DYS3)         ____absent       ____reduced      ____normal
                        Dystrophin (BMD Hotspot)         ____absent       ____reduced      ____normal
                        Spectrin                                    ____absent       ____reduced      ____normal
                        Utrophin                                    ____absent       ____normal       ____increased
 Other stains for limb-girdle or congenital muscular dystrophy
                        Laminin a2/Merosin                   ____absent       ____reduced      ____normal
                        Alpha dystroglycan (VIA)            ____absent       ____reduced      ____normal
                        Alpha dystroglycan (IIH)             ____absent       ____reduced      ____normal
                        Beta dystroglycan                      ____absent       ____reduced      ____normal
                        Alpha sarcoglycan                     ____absent       ____reduced      ____normal
                        Beta sarcoglycan                       ____absent       ____reduced      ____normal                  
Delta sarcoglycan                      ____absent       ____reduced      ____normal
                        Gamma sarcoglycan                  ____absent       ____reduced      ____normal
Dysferlin                                   ____absent       ____reduced      ____normal                  
Emerin                                      ____absent       ____reduced      ____normal
                        Collagen VI                               ____absent       ____reduced      ____normal
                        Caveolin 3                                 ____absent       ____reduced      ____normal
                        Desmin                                     ____absent       ____reduced      ____normal
                        Integrin a7                                ____absent       ____reduced      ____normal
                        nNOS                                       ____absent       ____reduced      ____normal
 Inflammatory myopathy panel
                        CD4                                         ____absent       ____present in ___ % of lymphocytes
                        CD8                                         ____absent       ____present in ___ % of lymphocytes
                        CD20                                        ____absent       ____present in ___ % of lymphocytes
                        CD45                                        ____absent       ____present in ____% of mononuclear cells        
CD68                                        ____absent       ____present in ____% of mononuclear cells        
C5b-9                                       ____absent       ____present on endomysial capillary walls
Major Histocompatability Complex          ____absent     ____sarcolemmal       ____diffuse

4.        Additional immunohistochemical/immunofluorescence assays performed: __________________________________________________________________________________

5.       Other abnormalities noted on immunohistochemistry:  __________________________________

Epon-Embedded Tissue/Electron Microscopy (Muscle Biopsy/Autopsy Specimens)

1.       Abnormalities seen on:             Light microscopy (Toluidine blue staining)       Electron microscopy
 Both – Light microscopy and Electron microscopy

2.       Abnormalities noted in:            Contractile apparatus
                                                 Sarcotubular organization
                                                 Mitochondria, specify (choose all that apply):
 Abnormal shape       
 Abnormal numbers
                                                                         Abnormal location   
                                                                         Abnormal architecture

3.       Describe any pathological inclusions noted:     N/A _________________________________________________________________________________________


4.       Describe any abnormal storage material identified:       N/A _________________________________________________________________________________________