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

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

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 [country^a]
	(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)

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
^aAs described in study (country from which samples were taken from)
^bConcurrent or non-concurrent if time not specified
^cPrimary vs metastatic tumour samples

ISSN: 1756-9966