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Table 1 Data from targeted NGS for comparison of molecular profiles between tumours (note that there was not enough tissue from the primary tumour in case 1 for NGS analysis in addition to pyrosequencing)

From: Targeted sequencing may facilitate differential diagnostics of pulmonary tumours: a case series

Case no. Tumour Estimated tumour qty (%) Run no. Gene Mutation frequency (%) Transcript/HGVSc Classification Consequence dbSNP ID
2 Breast tumour 30 ML00256 PIK3CA 36.3 NM_006218.2: c.3140A > G Unknown significance Missense variant rs121913279
     PTEN 6.3 NM_000314.4: c.80-1G > C Unknown significance Splice acceptor variant  
  Lung tumour 40 ML00257 PIK3CA 24.8 NM_006218.2: c.3140A > G Unknown significance Missense variant rs121913279
3 Upper lobe tumour 10 ML00279 KRAS 12.1 NM_033360.2: c.34G > T Pathogenic Missense variant rs121913530
     CDH1 50.3 NM_004360.3: c.1774G > A Unknown significance (probably germline variant) Missense variant rs35187787
     SMAD4 22.9 NM_005359.5: c.1495 T > C Unknown significance Missense variant  
3 Lower lobe tumour 10 ML00280 KRAS 4.8 NM_033360.2: c.34G > T Pathogenic Missense variant rs121913530
     CDH1 51.2 NM_004360.3: c.1774G > A Unknown significance (probably germline variant) Missense variant rs35187787
     SMAD4 6.3 NM_005359.5: c.1495 T > C Unknown significance Missense variant  
4 Right upper lobe tumour 25 ML00352 KRAS 27.5 NM_033360.3: c.183A > T Pathogenic Missense variant rs17851045
4 Left upper lobe tumour 60 ML00329 EGFR 59.9 NM_005228.3: c.2235_2249delGGAATTAAGAGAAGC Pathogenic Missense variant, feature truncation rs121913421
     TP53 24.5 NM_000546.5: c.473G > T Presumed pathogenic Missense variant  
4 Left lymph node metastasis 20 ML01103 EGFR 13.7 NM_005228.3: c.2235_2249delGGAATTAAGAGAAGC Pathogenic Missense variant, feature truncation rs121913421
     TP53 13.7 NM_000546.5: c.473G > T Presumed pathogenic Missense variant  
5 Central tumour 15 366-16 BRAF 8.9 NM_004333: c.1406G > T Pathogenic Missense variant rs121913355
     TP53 5.6 NM_000546: c.811G > A Pathogenic Missense variant  
5 Subpleural tumour 40 367-16 BRAF 37.6 NM_004333: c.1406G > T Pathogenic Missense variant rs121913355
6 Right upper lobe tumour 35 330-16 EGFR 17.1 NM_005228: c.2573G > T Pathogenic Missense variant rs121434568
     TP53 17.8 NM_000546: c.581 T > G Pathogenic Missense variant  
6 Right lower lobe tumour 40 329-16 (no mutations; ALK positive)      
6 Left lower lobe tumour 30 279-16 (no mutations; ALK positive)