Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update

Table 3 Mutations studies in gallbladder cancer by high throughput methods

Platform	Number of samples	Study population	Research planned	Key findings	Ref.
Sequenom Mass ARRAY technology	49 FFPE	India	390 mutations in 30 genes	PIK3CA (4%), KRAS (2%), CTNNB1 (4%), TP53 (18%)	[95]
Mass spectroscopy-based	57 FFPE	MD Anderson Centre	159 mutations in 33 genes	14 hotspot mutations in 9 cases including (KRAS, NRAS, PIK3CA, IDH1, ALK, MET)	[94]
				26 mutations in 15cases
Next-generation sequencing (NGS)	15 FFPE		NGS of 182 cancer-related genes	(P53, STK11, RICTOR,TSC2, FGF3-TACC fusion, FGF10 amplification)	[94]
				Preponderance of mutations involving the PI3 kinase pathway
Whole Exome and transcriptome Sequencing	29 Fresh Frozen	Japan	64 non silent mutations signatures	EGFR, ERBB3, PTEN, ARID2, MLL2,	[96]
				MLL3, APOBEC, TERT
				APOBEC-associated mutation signature were observed in GBC
Exome sequencing and targeted gene sequencing	57 Fresh Frozen	China	Whole exome sequencing	TP53 (47.1%), KRAS (7.8%) and	[93]
				ERBB3 (11.8%)
				ERBB pathway genes mostly mutated

FFPE: Fresh frozen paraffin embedded.