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Table 4 Summary of previously published series

From: Intratumoral distribution of EGFR mutations and copy number in metastatic lung cancer, what impact on the initial molecular diagnosis?

Article

Histological subtype

No of samples

Smoking status

Concordance PT/M

Analysis within PT

Concordance within PT

Method

Mutation type

Metastatic sites

Yatabe et al. 2011[17]

ADC (77)

77

 

100

  

qPCR

L858R

Lymph nodes

       

Fragment analysis

DEL19

 
        

INS20

 
        

719X

 

Sun et al. 2011[37]

ADC (39), SCC (31), ADSQ (6), LCC (4)

80

Ever (49)

   

Direct sequencing

all

Lymph nodes

   

Never (31)

      
   

Global

92,5% (74/80)

     

Wei et al. 2014[41]

ADC (49)

50

Ever (10)

80%

  

qPCR (commercial kit)

45 hotspots

Lymph nodes

 

SCC (1)

        
   

Never (40)

97,5%

     
   

Global

93% (47/50)

     

Bai et al. 2013[36]

ADC (63)

85 (45 EGFRmt 40 EGFRwt)

  

1431 foci

87,1%

ARMS

DXS EGFR mutation Kit

 
 

SCC (10)

   

1238 foci (foci : capture with laser microdissection 0,1cm2)

4 cases with 5% - 8% of foci showing mutations

   
 

ADSQ (5)

        
 

Other (7)

        

Chang et al. 2011[42]

ADC (34)

56 (27 EGFRmt)

Ever (29)

62%

  

Direct sequencing

all

Lymph nodes

 

SCC (17)

        
 

ADSQ (1)

 

Never (23)

70%

     
 

Other (1)

 

Unknown (4)

      
   

Global

68% (38/56)

     

Schmid et al. 2009[33]

ADC (96)

96 (7 EGFRmt)

Ever (74)

   

Direct sequencing

L858R (3)

Lymph nodes

        

DEL19 (3)

 
   

Never (22)

    

INS20 (1)

 
   

Global

14% (1/7)

     

Gow et al 2009[34]

ADC (42)

67 (35 EGFRmt)

Ever (26)

   

Direct sequencing and ARMS for discordant results

all

Brain (25)

 

SCC (21)

       

Bone (20)

 

ADSQ (0)

(19 with adjuvant treatment before molecular analysis on metastatic site)

Never (41)

     

Other (22)

 

Other (4)

 

Global

26% (9/35) seq and 57 %(20/35) ARMS

     

Mattsson et al. 2012[18]

ADC (6)

6

  

3 foci per tumor (distinct morphologies)

100%

Direct sequencing

L858R and DEL19

 

Kalikaki et al. 2008[35]

ADC (20)

25 (7 EGFRmt)

Ever (22)

   

Direct sequencing

all

Brain (3)

 

SCC (2)

       

Pleura (5)

 

ADSQ (0)

(17 with adjuvant treatment before molecular analysis on metastatic site)

Never (3)

     

Lung (9)

 

Other (3)

 

Global

14% (1/7) 5 mutations are rare alterations (codons 692-847-746-857)

    

Adrenal gland (3)

         

Bone (2)

         

Skin (1)

         

Liver (1)

Matsumoto et al. 2006[43]

ADC (19)

19 (12 EGFRmut)

 

100%

  

Direct sequencing

L858R, DEL19

Brain (19)

Yatabe et al. 2011[17]

ADC (50)

50 EGFRmt

  

3 foci per tumor (50)

100%

qPCR

L858R

 
       

Fragment analysis

DEL19

 
     

100 foci per tumor (5)

100%

   
  1. Schematic review of previously published series comparing primary tumor and metastasis or different loci within primary tumor. Tumor type, smoking status, detection methods, mutation tested and metastatic sites are given. PT : primary Tumor, M: metastasis, ADC: adenocarcinoma, SCC: squamous cell carcinoma, ADSQ : adenosquamous carcinoma, LCC: large cell carcinoma mt: mutated, wt : wild type, ARMS: amplification refractory mutation system.