Molecular characterization of pancreatic and biliary tumors

Abstract

INTRODUCTION: Pancreatic and bile duct tumors are generally diagnosed at an advanced stage, when
curative options are scarce, which translates into high mortality rates.
Complete resection is the only cure, but only a small percentage of patients have early- stage disease at the
time of diagnosis. Moreover, among patients who undergo curative surgery, recurrence rates are extremely
high. At present, there is no clearly effective systemic treatment beyond the first line and this makes new
research related to molecular biology that can define new lines of targeted treatment an urgent need in this
context.
OBJECTIVE: To determine the frequency of the different molecular alterations in tumors of the bile duct
and pancreas and to study if there is a relationship between the mutation and the survival of patients.
Additionally, to evaluate the prognostic factor of laboratory variables at diagnosis
MATERIAL AND METHODS: Retrospective and descriptive study, which included 110 patients with a
diagnosis of tumors of the bile duct or pancreas, evaluated by the team of the digestive tumors unit of
Hospital 12 de Octubre between February 2019 and July 2020.
RESULTS: 64 patients with diagnosis of pancreatic tumor and 46 with bile duct tumors were included, the
mean age was 61 years, 43% of the patients were diagnosed in stage IV of the disease, the survival for
patients with pancreatic tumors in the metastatic period was 20 months, 25 months for patients with biliary
tumors. P53, K-ras, CDKN2A and SMAD were the most frequently found mutations in pancreatic tumors,
ARID1A, FGFR and IDH in intrahepatic cholangiocarcinoma, P53 k-ras and CDKN2A in extrahepatic
tumors. When investigating prognostic factors, abnormal hemoglobin and albumin at diagnosis were
parameters with statistically significant results in relation to survival.
CONCLUSIONS: Recent advances have clarified the genetic and molecular characteristics of
biliopancreatic tumors and offer the potential for their molecular- based diagnosis. However, the existing
markers have limited applicability due to a lack of adequate sensitivity and specificity; More studies are
required to validate and confirm the clinical utility of some promising markers. Hemoglobin and albumin
values at the moment of diagnosis could be used as prognostic factors in patients with pancreatic tumors.