Molecular Diagnostics in Esophageal and Gastric Neoplasms: 2018 Update

Muhammad Zulfiqar; Martin H Bluth; Amarpreet Bhalla

doi:10.1016/j.cll.2018.02.009

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.

Authors

Muhammad Zulfiqar¹, Martin H Bluth², Amarpreet Bhalla³

Affiliations

¹ Southeastern Pathology Associates (SEPA Labs), 203 Indigo Drive, Brunswick, GA 31525, USA. Electronic address: mzulfiqar@sepalabs.com.
² Southeastern Pathology Associates (SEPA Labs), 203 Indigo Drive, Brunswick, GA 31525, USA; Department of Pathology, Wayne State University School of Medicine, 540 East Canfield Street, Detroit, MI 48201, USA; Pathology Laboratories, Michigan Surgical Hospital, 21230 Dequindre Road, Warren, MI 48091, USA.
³ Department of Pathology and Anatomical Sciences, Jacobs School of Buffalo, 955 Main Street, Buffalo, NY 14203, USA.

PMID: 29776635
DOI: 10.1016/j.cll.2018.02.009

Abstract

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