domingo, 23 de abril de 2017

Molecular Testing for Gastrointestinal Cancer. - PubMed - NCBI

Molecular Testing for Gastrointestinal Cancer. - PubMed - NCBI

 2017 Mar;51(2):103-121. doi: 10.4132/jptm.2017.01.24. Epub 2017 Feb 19.

Molecular Testing for Gastrointestinal Cancer.

Abstract

With recent advances in molecular diagnostic methods and targeted cancer therapies, several molecular tests have been recommended for gastric cancer (GC) and colorectal cancer (CRC). Microsatellite instability analysis of gastrointestinal cancers is performed to screen for Lynch syndrome, predict favorable prognosis, and screen patients for immunotherapy. The epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor has been approved in metastatic CRCs with wildtype RAS (KRAS and NRAS exon 2-4). A BRAF mutation is required for predicting poor prognosis. Additionally, amplification of human epidermal growth factor receptor 2 (HER2) and MET is also associated with resistance to EGFR inhibitor in metastatic CRC patients. The BRAF V600E mutation is found in sporadic microsatellite unstable CRCs, and thus is helpful for ruling out Lynch syndrome. In addition, the KRAS mutation is a prognostic biomarker and the PIK3CA mutation is a molecular biomarker predicting response to phosphoinositide 3-kinase/AKT/mammalian target of rapamycin inhibitors and response to aspirin therapy in CRC patients. Additionally, HER2 testing should be performed in all recurrent or metastatic GCs. If the results of HER2 immunohistochemistry are equivocal, HER2 silver or fluorescence in situ hybridization testing are essential for confirmative determination of HER2 status. Epstein-Barr virus-positive GCs have distinct characteristics, including heavy lymphoid stroma, hypermethylation phenotype, and high expression of immune modulators. Recent advances in next-generation sequencing technologies enable us to examine various genetic alterations using a single test. Pathologists play a crucial role in ensuring reliable molecular testing and they should also take an integral role between molecular laboratories and clinicians.

KEYWORDS:

Colorectal neoplasms; Gastric neoplasms; Molecular diagnosis; Prognosis; Targeted therapy

PMID:
 
28219002
 
PMCID:
 
PMC5357760
 
DOI:
 
10.4132/jptm.2017.01.24


From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology

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