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Molecular Testing for Gastrointestinal Cancer.

Hye Seung Lee1,2, Woo Ho Kim2, Yoonjin Kwak1,2

  • 1Department of Pathology, Seoul National University Bundang Hospital, Seongnam, Korea.

Journal of Pathology and Translational Medicine
|February 21, 2017
PubMed
Summary

Molecular testing for gastric and colorectal cancers aids in diagnosing Lynch syndrome, predicting prognosis, and guiding targeted therapies like immunotherapy and EGFR inhibitors. Pathologists are key to ensuring accurate molecular diagnostics.

Keywords:
Colorectal neoplasmsGastric neoplasmsMolecular diagnosisPrognosisTargeted therapy

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Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Gastrointestinal Cancers

Background:

  • Molecular diagnostics and targeted therapies are advancing for gastric cancer (GC) and colorectal cancer (CRC).
  • Molecular tests are crucial for screening Lynch syndrome, predicting prognosis, and guiding treatment in GC and CRC.
  • Next-generation sequencing enables comprehensive genetic analysis for these cancers.

Purpose of the Study:

  • To review the current molecular diagnostic landscape for GC and CRC.
  • To highlight the role of specific molecular markers in diagnosis, prognosis, and treatment selection.
  • To emphasize the importance of pathologists in molecular testing.

Main Methods:

  • Review of current literature on molecular diagnostics in GC and CRC.
  • Discussion of key molecular alterations and their clinical significance.
  • Emphasis on the role of pathology in molecular testing.

Main Results:

  • Microsatellite instability analysis screens for Lynch syndrome and predicts immunotherapy response.
  • EGFR, RAS, BRAF, HER2, MET, and PIK3CA mutations are critical biomarkers for CRC treatment and prognosis.
  • HER2 testing is essential for metastatic GC, with FISH/silver testing for equivocal IHC results.
  • Epstein-Barr virus-positive GC has distinct molecular and clinical characteristics.

Conclusions:

  • Molecular testing is integral to personalized medicine in GC and CRC.
  • Accurate interpretation of molecular tests by pathologists is vital for clinical decision-making.
  • Continued advances in molecular diagnostics will further refine cancer treatment strategies.