Molecular Diagnostics in Esophageal and Gastric Neoplasms: 2018 Update

Clin Lab Med. 2018 Jun;38(2):357-365. doi: 10.1016/j.cll.2018.02.009.


Esophageal cancer (EC) is rapidly increasing in incidence in the United States. Genetic changes associated with the development of EC involve the p16, p53, and APC genes. Human epidermal growth factor 2 (HER-2) overexpression is seen in gastroesophageal junction carcinoma and a subset gastric carcinoma (GC). Interestingly, up to 50% cases of GC are related to Helicobacter pylori infection and up to 16% are related to EBV infection. Microsatellite instability is observed in up to 39% of GC and cell free nucleic acid analysis provides additional opportunities for diagnosis and prognosis of disease.

Keywords: Adenocarcinoma; Esophagus; Gastric carcinoma; HER-2; Molecular genetics; Next-generation sequencing; Squamous cell carcinoma; Trastuzumab.

Publication types

  • Review

MeSH terms

  • Esophageal Neoplasms* / diagnosis
  • Esophageal Neoplasms* / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Molecular Diagnostic Techniques*
  • Stomach Neoplasms* / diagnosis
  • Stomach Neoplasms* / genetics