What is the role of genetics in the etiology of carcinoid tumor?

Updated: Feb 12, 2019
  • Author: Cameron K Tebbi, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Gastric neuroendocrine tumors are associated with a high incidence of LOH at chromosomal arm 8p and a lowered frequency of LOH at 7q. Chromosomal arm 8p is suspected to be the possible location of the tumor-suppressor gene associated with the genesis of gastric neuroendocrine tumors.

LOH on the X chromosome is seen in 15% of malignant carcinoid tumors. [63, 64]

Numerical imbalances of chromosomes have been observed in carcinoid tumors.

  • In one study of midgut carcinoids, numerical changes were found in 16 of the 18 tumors.

  • The most common aberrations were losses of bands 18q22-qter (67%), 11q22-q23 (33%), and 16q21-qter (22%) with a gain of band 4p14-qter (22%). Rates of alterations were substantially more common in metastases than in primary tumors.

Losses of chromosomal arms 18q and 11q were found in the primary tumors and metastases, whereas loss of 16q and gain of 4p were present only in metastases.

HER2 expression has been reported in intestinal, but not gastric, tumors. [68]

Some studies have implicated homeobox gene Hoxc6 through activation of the oncogenic activator protein-1 signaling pathway and via interaction with JunD in carcinoid tumorigenesis. [69] Mutation in the home domain of Hoxc6, which blocks this interaction, results in inhibition of the carcinoid tumor cell proliferation in vitro.

One postulate is that loss of chromosomal arms 18q and 11q may represent an early event and that the loss of 16q and gain of 4p occur as a late event in midgut carcinoids.

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