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Table 1 Summary of studies reporting assessment of EGFR molecular marker

From: Mutation status concordance between primary lesions and metastatic sites of advanced non-small-cell lung cancer and the impact of mutation testing methodologies: a literature review

Reference Patient demographics: Description of matched pairs Synchronous/metachronous/metastases, n:n Molecular marker assessment technique Mutation frequency,c n/N (%) Concordance, n/N (%)
(i) Median age (range), years N Tumour sample storage form Primary Metastatic: n  
(ii) Gender, n/N (%) male Histological subtype: n Time between primary and metastatic tumour sample collection b
(iii) Ethnicity [countrya]   
(iv) Smoking status, n/N (%)
Assessment of EGFR molecular marker
 Chen et al. [27] (i) 58 (27–84) 180 Archived Lung Lymph node: 49 40:140 High-resolution melting method 119/235 (51) vs lymph node metastases 15/49 (31); [Overall]
(ii) 112/180 (62.2) Pulmonary nodules: 41 N/A pulmonary nodules 19/41 (46); 155/180 (86)
(iii) Asian Chest wall: 15 distant metastatic tumours 16/35 (46) [Paired pulmonary primary nodules]
(iv) Never-smoker: 52/180 (28.9); ever-smoker: 128/180 (71.1) Pleural: 8 31/41 (76)
Brain: 5 [Paired primary lung tumours and distant metastases]
Liver: 3 30/35 (86)
Adrenal gland: 3 [Paired primary lung tumours and metastatic lymph nodes]
Retroperitoneal lymph node: 1 44/49 (90)
[Paired metachronous primary tumours]
50/55 (91)
 Gow et al. [28] (i) 61 (38–80) 67 FFPE Lung Brain: 25 N/A Direct sequencing and ARMS method [Direct sequencing] [Direct sequencing]
(ii) 40/67 (60) Bone: 20 Median time between resection of primary and corresponding metastatic tumours: 9.3 months (range: 0–90) 18/67 (27) vs 26/67 (39) 41/67 (61)
(iii) [Taiwan] Pleura/skin/soft tissue: 11 [Direct sequencing and ARMS method combined]
(iv) Never-smoker: 41/67 (61); ever-smoker: 26/67 (39) Distant lymph node: 4 49/67 (73)
Gastrointestinal system: 4
Metastatic lung: 2
Adrenal gland: 1
 Luo et al. [54] (i) 55 (26–79) at diagnosis 15 FFPE Lung Brain N/A ARMS method 7/15 (47) vs 8/15 (53) 14/15 (93)
(ii) 83/136 (61) N/A
(iii) [China]
(iv) Never-smoker: 73/136 (53.7); ever-smoker: 51/136 (37.5)
 Mansuet-Lupo et al. [30] (i) N/A 10 FFPE Lung Lymph node: 8 N/A ‘Locally validated tests’ N/A 10/10 (100)
(ii) N/A ADC: 10 Pleura: 2 N/A
(iii) Caucasian [France]
(iv) N/A
 Matsumoto et al. [53] (i) N/A (43–70) 8 N/A Lung Brain N/A Direct sequencing (after laser capture microdissection in some cases) 6/8 (75) vs 6/8 (75) 8/8 (100)
(ii) 5/8 (63) Time between resection of primary and corresponding metastatic tumours (range): 0.5–64 months
(iii) [Japan]
(iv) Never-smoker: 3/8 (38); ever-smoker: 5/8 (63)
 Park et al. [31] (i) 61 (32–82) 101 FFPE Lung Lymph node 101:0 Direct sequencing and heteroduplex analysis [Direct sequencing] [Direct sequencing]
(ii) 73/101 (72.3) [Concurrent] 21/101 (21) vs 11/101 (11) 89/101 (88)
(iii) [Korea] [Heteroduplex analysis] [Heteroduplex analysis]
(iv) Never-smoker: 29/101 (28.7); ever-smoker: 66/101 (65.4) 29/101 (29) vs 26/101 (26) 84/101 (83)
 Shimizu et al. [52] (i) [Mean] 69.1 (37–83) 70 Paraffin embedded Lung Lymph node N/A PNA-LNA PCR clamp method 21/70 (30) vs 11/70 (16) 60/70 (86)
(ii) 46/70 (66) ADC: 35 [Concurrent]
(iii) [Japan] SSC: 24
(iv) Never-smoker: 22/70 (31.4); ever-smoker: 48/70 (68.6) ADQCC: 5
LCC: 4
Pleomorphic carcinoma: 2
 Tang et al. [60] (i) N/A 9d FFPE Lung Lymph node: 9 N/A Direct sequencing following laser-capture microdissection 54/56 (96) vs 25/30 (83) N/A
(ii) N/A ADC: 9 N/A
(iii) [USA]
(iv) N/A
 Wei et al. [50] (i) [38/50 > 60 years; 12/50 ≤ 60 years] 50 FFPE Lung Lymph node N/A Real-time fluorescent PCR 50/50 (100) vs 47/50 (94) (47/50) 94
(ii) 11/50 (N/A) ADC: 49 N/A
(iii) Chinese SSC: 1
(iv) Never-smoker: 40/50 (N/A); ever-smoker: 10/50 (N/A)
 Yatabe et al. [51] (i) N/A 77 Fresh frozen Lung Lymph node N/A Direct sequencing 77/77 (100) vs 77/77 (100) (77/77) 100
(ii) N/A N/A
(iii) [Japan]
(iv) N/A
  1. ADC Adenocarcinoma, ADQCC Adenosquamous carcinoma, ARMS Amplification‐refractory mutation system, EGFR Epidermal growth factor receptor, FFPE Formalin-fixed paraffin-embedded, LCC Large cell carcinoma, N/A Not available, PCR Polymerase chain reaction, PNA-LNA Peptide nucleic acid-locked nucleic acid, SSC Squamous cell carcinoma
  2. aAs described in study (country from which samples were taken from)
  3. bConcurrent or non-concurrent if time not specified
  4. cPrimary vs metastatic tumour samples
  5. d56 primary samples and 30 metastatic samples