Carcinoid Tumors, Intestinal

Clinical Features

Anderson (1966) observed appendiceal carcinoid in father and daughter. Eschbach and Rinaldo (1962) reported fatal malignant carcinoid of the ileum in brother and sister. Duodenal carcinoid occurs with multiple endocrine neoplasia (131100, 162300, 171400).

Cytogenetics

Karanjawala et al. (2000) reported the first account of an individual with apparently nonmosaic complete maternal isodisomy of chromosome 8. The individual was identified during routine genotyping in a genomewide search for type II diabetes susceptibility genes, although he did not have diabetes. At age 26 years, the patient underwent surgical removal of an invasive ileal carcinoid tumor located about 1.5 m from the ileocecal junction. Metastases were noted in 4 regional lymph nodes. The patient had not had symptoms of carcinoid syndrome (cutaneous flushing, diarrhea, bronchial constriction) and the pre- and postoperative serotonin levels remained normal for 4 years.

Molecular Genetics

For discussion of a possible association of midgut carcinoids and Merkel cell carcinomas and variation in the SDHD gene, see 114900.0011 and 114900.0019.