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 _________________________________________________________________________________________




Webinar in Quantitative Digital Pathology Methods Applied to Neuropathology

Dr. Maggie Flanagan of Northwestern University recently informed me of the upcoming digital pathology webinar session which Dr. Pete Nelson ...