Entry - %114900 - CARCINOID TUMORS, INTESTINAL - OMIM
% 114900

CARCINOID TUMORS, INTESTINAL


Clinical Synopsis
 

Oncology
- Intestinal carcinoid
- Appendiceal carcinoid
- Malignant carcinoid of ileum
Inheritance
- Autosomal dominant

TEXT

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 602690.0011 and 602690.0019.


REFERENCES

  1. Anderson, R. E. A familial instance of appendiceal carcinoid. Am. J. Surg. 111: 738-740, 1966. [PubMed: 5936207, related citations] [Full Text]

  2. Debelenko, L. V., Brambilla, E., Agarwal, S. K., Swalwell, J. I., Kester, M. B., Lubensky, I. A., Zhuang, Z., Guru, S. C., Manickam, P., Olufemi, S.-E., Chandrasekharappa, S. C., Crabtree, J. S., Kim, Y. S., Heppner, C., Burns, A. L., Spiegel, A. M., Marx, S. J., Liotta, L. A., Collins, F. S., Travis, W. D., Emmert-Buck, M. R. Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Hum. Molec. Genet. 6: 2285-2290, 1997. [PubMed: 9361035, related citations] [Full Text]

  3. Eschbach, J. W., Rinaldo, J. A., Jr. Metastatic carcinoid: a familial occurrence. Ann. Intern. Med. 57: 647-650, 1962.

  4. Karanjawala, Z. E., Kaariainen, H., Ghosh, S., Tannenbaum, J., Martin, C., Ally, D., Tuomilehto, J., Valle, T., Collins, F. S. Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor. Am. J. Med. Genet. 93: 207-210, 2000. [PubMed: 10925383, related citations] [Full Text]

  5. Moertel, C. G., Dockerty, M. B. Familial occurrence of metastasizing carcinoid tumors. Ann. Intern. Med. 78: 389-390, 1973. [PubMed: 4694894, related citations] [Full Text]


Victor A. McKusick - updated : 9/10/2002
Victor A. McKusick - updated : 8/17/2000
Victor A. McKusick - updated : 12/19/1997
Creation Date:
Victor A. McKusick : 6/4/1986
carol : 10/13/2023
carol : 07/11/2018
carol : 03/14/2016
carol : 3/14/2016
tkritzer : 9/10/2002
carol : 10/20/2000
carol : 8/29/2000
terry : 8/17/2000
mark : 1/2/1998
terry : 12/19/1997
mimadm : 6/25/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 10/17/1986

% 114900

CARCINOID TUMORS, INTESTINAL


DO: 0050925;  



TEXT

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 602690.0011 and 602690.0019.


See Also:

Debelenko et al. (1997); Moertel and Dockerty (1973)

REFERENCES

  1. Anderson, R. E. A familial instance of appendiceal carcinoid. Am. J. Surg. 111: 738-740, 1966. [PubMed: 5936207] [Full Text: https://doi.org/10.1016/0002-9610(66)90053-5]

  2. Debelenko, L. V., Brambilla, E., Agarwal, S. K., Swalwell, J. I., Kester, M. B., Lubensky, I. A., Zhuang, Z., Guru, S. C., Manickam, P., Olufemi, S.-E., Chandrasekharappa, S. C., Crabtree, J. S., Kim, Y. S., Heppner, C., Burns, A. L., Spiegel, A. M., Marx, S. J., Liotta, L. A., Collins, F. S., Travis, W. D., Emmert-Buck, M. R. Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. Hum. Molec. Genet. 6: 2285-2290, 1997. [PubMed: 9361035] [Full Text: https://doi.org/10.1093/hmg/6.13.2285]

  3. Eschbach, J. W., Rinaldo, J. A., Jr. Metastatic carcinoid: a familial occurrence. Ann. Intern. Med. 57: 647-650, 1962.

  4. Karanjawala, Z. E., Kaariainen, H., Ghosh, S., Tannenbaum, J., Martin, C., Ally, D., Tuomilehto, J., Valle, T., Collins, F. S. Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor. Am. J. Med. Genet. 93: 207-210, 2000. [PubMed: 10925383] [Full Text: https://doi.org/10.1002/1096-8628(20000731)93:3<207::aid-ajmg9>3.0.co;2-a]

  5. Moertel, C. G., Dockerty, M. B. Familial occurrence of metastasizing carcinoid tumors. Ann. Intern. Med. 78: 389-390, 1973. [PubMed: 4694894] [Full Text: https://doi.org/10.7326/0003-4819-78-3-389]


Contributors:
Victor A. McKusick - updated : 9/10/2002
Victor A. McKusick - updated : 8/17/2000
Victor A. McKusick - updated : 12/19/1997

Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 10/13/2023
carol : 07/11/2018
carol : 03/14/2016
carol : 3/14/2016
tkritzer : 9/10/2002
carol : 10/20/2000
carol : 8/29/2000
terry : 8/17/2000
mark : 1/2/1998
terry : 12/19/1997
mimadm : 6/25/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 10/17/1986