Precision medicine for gastrointestinal cancer: Recent progress and future perspective

Abstract

Gastrointestinal (GI) cancer has a high tumor incidence and mortality rate worldwide. Despite significant improvements in radiotherapy, chemotherapy, and targeted therapy for GI cancer over the last decade, GI cancer is characterized by high recurrence rates and a dismal prognosis. There is an urgent need for new diagnostic and therapeutic approaches. Recent technological advances and the accumulation of clinical data are moving toward the use of precision medicine in GI cancer. Here we review the application and status of precision medicine in GI cancer. Analyses of liquid biopsy specimens provide comprehensive real-time data of the tumor-associated changes in an individual GI cancer patient with malignancy. With the introduction of gene panels including next-generation sequencing, it has become possible to identify a variety of mutations and genetic biomarkers in GI cancer. Although the genomic aberration of GI cancer is apparently less actionable compared to other solid tumors, novel informative analyses derived from comprehensive gene profiling may lead to the discovery of precise molecular targeted drugs. These progressions will make it feasible to incorporate clinical, genome-based, and phenotype-based diagnostic and therapeutic approaches and apply them to individual GI cancer patients for precision medicine.

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin

“…While PIK3CA alterations occur in 36% or more of breast cancer patients [ 38 ] there are other relevant biomarkers to consider in these patients, including ERBB2 , BRCA1 , BRCA2 , NTRK , and MSI (or mismatch repair deficiency) [ 13 ]. Furthermore, targetable alterations ae increasingly being identified across numerous other solid tumor types, including non-small cell lung cancer [ 39 ], prostate cancer [ 40 ], colorectal and other gastrointestinal malignancies [ 41 ], ovarian cancer [ 42 ], melanoma [ 43 ], and others. The studies herein describe the ability to interrogate and identify alterations in these relevant genes in a single assay, providing pertinent genomic information from a single, minimally invasive molecular test.…”

ctDNA as a Cancer Biomarker: A Broad Overview

“…Gastric cancer (GC) is the fourth most common cancer in the world and the second leading cause of cancer deaths (Matsuoka and Yashiro, 2019;Tsujiura et al, 2014). In recent years, certain studies have been performed yielding possible values for the diagnosis of gastric cancer by assessing cfDNA levels (Matsuoka and Yashiro, 2019). Most studies show a contribution to the detection of specific methylated promoter regions in the blood of patients with GC (Gao et al, 2017).…”

“…An investigation involving liquid biopsy demonstrated the possibility of using HER2 gene ctDNA detection as a biomarker for the diagnosis of GC cases (Mathai et al, 2019). The use of new biomarkers, including proteins and genes such as FGFR, CDH1, PI3K, Met, VEGFR, TP53, and DP-1, enables new diagnostic and monitoring approaches for patients with GC (Matsuoka and Yashiro, 2019).…”

Non-Invasive Early Molecular Detection of Gastric Cancers

“…Genomic and epigenomic modifications play important roles in GC pathogenesis [ 10 , 11 , 12 , 13 ]. Epigenetic regulation is necessary for the normal growth and continuation of tissue-specific gene expression patterns in mammals.…”