Emerging need of molecular profiling in hepatobiliary cancer

Abstract

: Gallbladder cancer is a rare malignancy but represents almost 50% of all biliary tract cancer. Biliary cancers are highly fatal malignancies with a 5-year survival rate of approximately 20%. The prognosis of gallbladder cancer is poor due to the aggressive tumor biology, late presentation, complicated anatomic position, and advanced stage at diagnosis.  Locally advanced and metastatic disease treatment is with palliative chemotherapy. Alarming sign of gallbladder cancer is overall decreased in incidence in older patients but increased in the younger population. So many mutations have been reported for the gall bladder cancer till date. : A prospective observational study was conducted over a period of 1 year at Asian Institute of Medical Sciences Faridabad which includes hepatobiliary carcinoma patients who are at stage III and stage IV of cancer. After getting the consent formalin fixed paraffin embedded biopsy samples, and 5 ml serum sample was collected in serum separator tube (SST). A whole genome sequencing was performed using Illumina HiSEQ, Illumina (NGS) technology, allows for high-throughput sequencing of DNA and RNA. Illumina's NGS is based on "sequencing by Synthesis" to detect the mutations.: Most common mutation found was in the P53 gene. TP53 (p.Arg175His), TP53 (p.Arg306Ter), TP53 (p.Cys238Tyr), TP53 (p.Leu43Ter), TP53 (p.Glu339Ter), TP53 (p.Pro190Leu). Mutations in the TP53 gene are a common feature of carcinoma of the gallbladder, and are associated with a more aggressive tumor phenotype, resistance to chemotherapy, and poorer overall survival.