Genome-wide single nucleotide polymorphism array analysis reveals recurrent genomic alterations associated with histopathologic features in intrahepatic cholangiocarcinoma.

[cholangiocarcinoma]

Recent studies indicate that genomic alterations (GAs ) are associated with many human malignancies . Genome-wide analysis of GAs involved in intrahepatic cholangiocarcinoma (ICC ) and association with histopathologic features are limited . To help characterize this relatively rare neoplasm , we collected 32 frozen tissue samples of ICC to study GAs and molecular karyotypes by using single -nucleotide polymorphism array . Recurrent GAs occurring in at least 40 % of the patients were further correlated with histopathologic features . Gain of 1 q 21 .3 -q 23 .1 and losses of 1 p 36 .33 -p 35 .3 and 3 p 26 .3 -p 13 were significantly associated with larger tumor size more than 5 cm in diameter ; and loss of 4 q 13 .2 -q 35 .2 with tumor multiplicity . Moreover , losses of 1 p 36 .32 -p 35 .3 , 3 p 26 .3 -p 22 .2 , 4 q 13 .1 -q 21 .23 , 4 q 31 .3 -q 34 .3 and 4 q 34 .3 -35 .2 were inclined to be associated with high histological grade . As to tumor vascular invasion , gain of 1 q 21 .3 -q 23 .1 and losses of 3 p 22 .1 -p 12 .3 and 4 q 13 .2 -q 35 .2 were significantly associated with tumor vascular invasion . Some regions were concurrently associated with multiple histopathologic characteristics , including loss of 4 q 13 .2 -q 35 .2 associated with larger tumor size , high histological grade and vascular invasion ; losses of 1 p 36 .33 -p 35 .3 and 3 p 26 .3 -p 22 .2 with larger tumor size and high histological grade ; and gain of 1 q 21 .3 -q 23 .1 with larger tumor size and vascular invasion . Our study indicates that complex chromosomal instability is characteristic of ICC . Detecting crucial GAs will enable risk stratification and development of personalized therapies .