KEGG DISEASE: Carcinoid

DISEASE: Carcinoid

Entry

H00034 Disease

Name

Carcinoid

Description

Carcinoid tumors are relatively uncommon neoplasms that nonetheless comprise up to 85% of neuroendocrine gastrointestinal neoplasms. They most frequently occur in the midgut and develop from neuroendocrine cells that are normally and diffusely present in this location. Most carcinoids are sporadic but epidemiological studies report a familial risk. Moreover, carcinoids can occur within the multiple endocrine neoplasia (MEN) syndrome, a rare familiar tumor syndrome in which mutations in the MEN1 gene are manifested. Recently, it has been shown that a majority (78%) of sporadic carcinoids display loss of heterozygosity for markers around the MEN 1 region, thus suggesting involvement of this gene in the pathogenesis of both familial and sporadic carcinoids.

Category

Cancer

Brite

Human diseases [BR:br08402]
Cancers
  Cancers of the digestive system
   H00034  Carcinoid
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Malignant neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of digestive organs
     Malignant neoplasms of intestine
      2B80  Malignant neoplasms of small intestine
       H00034  Carcinoid
Tumor markers [br08442.html]
H00034

Pathway

hsa05202

Transcriptional misregulation in cancer

Network

Element

N00290

Mutation-inactivated MEN1 to transcription

Gene

MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]

Drug

Telotristat ethyl [DR:D09974]
Octreotide acetate [DR:D06495]

Comment