Molecular Diagnostics in the Neoplasms of Small Intestine and Appendix: 2018 Update

Clin Lab Med. 2018 Jun;38(2):343-355. doi: 10.1016/j.cll.2018.03.002.


Neoplasms of the small intestine are rare in comparison with colorectal tumors. The most common tumor types arising in the small intestine are adenocarcinomas, well-differentiated neuroendocrine tumors, gastrointestinal stromal tumors, and lymphoma. Primary appendiceal neoplasms are rare and found in less than 2% of appendectomy specimens with an incidence of approximately 1.2 cases per 100,000 people per year in the United States. This article explores molecular diagnostics in the neoplasms of small intestine and appendix.

Keywords: Appendix; GNAS; Goblet cell carcinoid; Microsatellite instability; Pseudomyxoma peritonei; Serrated appendiceal lesions; Small intestine.

Publication types

  • Review

MeSH terms

  • Appendiceal Neoplasms* / diagnosis
  • Appendiceal Neoplasms* / genetics
  • Appendiceal Neoplasms* / physiopathology
  • Humans
  • Intestinal Neoplasms* / diagnosis
  • Intestinal Neoplasms* / genetics
  • Intestinal Neoplasms* / physiopathology
  • Intestine, Small / physiopathology*
  • Mutation / genetics