Natural History of Familial Carcinoid Tumor
Carcinoid tumors are rare and cause either no or few nonspecific symptoms. Therefore,
patients with carcinoid tumors most often present late in the course of their illness when
there is already progression to an incurable state as a result of metastatic disease. At
present there are neither practical population screening tests nor effective therapies and
hence the 5 year survival rate is low. Due to the rareness of sporadic carcinoid tumors,
large scale genetic analysis and development of sensitive and specific diagnostic tests have
not been successful. While kindreds with familial carcinoid tumors that are not ascribable
to known genetic syndromes are exceedingly rare, they provide a unique opportunity to
facilitate the identification of the responsible gene mutation. In addition, the mutated
gene in the rare familial form may also underlie the origin of the more common sporadic
occurrence of carcinoid tumors. We propose to study families in which there are at least
two known affected members with carcinoid tumors. We aim to diagnose patients with early and
therefore potentially curable occult disease. Therefore, family members who have up to a 50%
lifetime risk of harboring a carcinoid tumor will undergo an intensive diagnostic evaluation
using biochemical, endoscopic and imaging modalities at initial and subsequent two year
follow up encounters. Early phenotypic assignment of affected family members and collection
of germline and tumoral DNA from multiple kindreds should also facilitate the genetic
analysis leading to the identity of the disease gene. Evaluation of affected family members
at varying stages of disease will contribute to our understanding of the natural history of
carcinoid tumors and the relative utility of a variety of diagnostic and surveillance tests.
Hopefully, such knowledge gained will also be applicable to patients with carcinoid tumors
occurring sporadically or in the setting of other familial cancer syndromes. There is no
planned treatment for patients with existing or newly diagnosed primary or metastatic
carcinoid tumors. However, these patients may be evaluated by consultation with oncology
and surgery for potential treatment on their service under their preexisting protocols.
Observational
Time Perspective: Prospective
Study the natural history of familial carcinoid tumors
Stephen A Wank, M.D.
Principal Investigator
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
United States: Federal Government
080098
NCT00646022
March 2008
Name | Location |
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National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda, Maryland 20892 |