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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