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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