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Table 4 Summary of studies reporting assessment of ‘other’ (non-EGFR/KRAS) molecular markers

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 p16 molecular marker

 Marchetti et al. [59]

(i) [Mean] 60 (36–76)

30

FFPE

Lung

Lymph node

N/A

Direct sequencing by PCR-SSCP

6/30 (20) vs 6/30 (20)

(30/30) 100

(ii) N/A

N/A

(iii) [Italy]

(iv) N/A

Assessment of somatic alterations

 Vignot et al. [62]

(i) N/A (41–82)

15

Frozen

Lung

Locoregional: 7

2:13

Targeted next-generation sequencing assay

[EGFR]

[Somatic mutations]

(ii) N/A (13/15)

ADC: 8

CNS: 3

N/A

1/32 (3) vs 1/31 (3)

N/A (94)

(iii) [France]

SSC: 3

Distant adenopathy: 2

[GNAS]

[Passenger mutations]

(iv) Never-smoker: N/A (1/15); ever-smoker: N/A (14/15)

LCC: 2

Adrenal: 1

1/32 (3) vs 1/31 (3)

N/A (63)

Basaloid carcinoma: 2

Cutaneous: 1

[KRAS]

Parietal: 1

4/32 (13) vs 4/31 (13)

[NOTCH1]

1/32 (3) vs 1/31 (3)

[PIK3CA]

4/32 (13) vs 3/31 (10)

[RB1]

1/32 (3) vs 1/31 (3)

[SMARCA4]

1/32 (3) vs 1/31 (3)

[STK11]

2/32 (38) vs 2/31 (3)

[TP53]

12/32 (41) vs 12/31 (42)

[Large structural alterations]

5/32 (16) vs 5/31 (16)

  1. ADC Adenocarcinoma, CNS Central nervous system, EGFR Epidermal growth factor receptor, FFPE Formalin-fixed paraffin-embedded, KRAS Kirsten rat sarcoma viral oncogenes homolog, LCC Large cell carcinoma, N/A Not available, PCR-SSCP Polymerase chain reaction-single-strand conformation polymorphism, 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