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Natural History of Familial Carcinoid Tumor

5 Years
Open (Enrolling)

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Trial Information

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.

Inclusion Criteria


1. Adult patients who are members of families in which there are at least two
immediate relatives from consecutive generations that have been diagnosed with
gastrointestinal carcinoid tumors (affected family member) and either have a
carcinoid tumor or are at a 50% lifetime risk of developing a carcinoid tumor by
virtue of being a first degree relative of an affected family member. This
includes family members of patients with carcinoid tumors even if the patients
with tumors are unwilling to participate so long as we have appropriate
documentation confirming the diagnosis of the carcinoid tumors in the affected
family members. Adult patients who are unable to provide informed consent but
whose wishes suggest they are willing to donate samples for research purposes
will be considered for study enrollment.

2. Unaffected spouses of patients with a carcinoid tumor and who have children.

3. Minor patients who are first-degree relatives of an affected family member and
above the age of 5 years old (accompanied by at least one consenting parent or
legal guardian) for genetic evaluation only.

4. Minor patients who are first-degree relatives of an affected family member and
above the age of 10 years old (accompanied by at least one consenting parent or
legal guardian) for genetic and imaging evaluation.


1. Families with multiple endocrine neoplasia (MEN) I, MEN II or other familial tumor
syndromes such as Von Hippel Lindau Syndrome and Neurofibomatosis for which there is
a known genetic predisposition to non-carcinoid tumors as well as carcinoid tumors
will be excluded from the study.

2. Family members less than 5 years of age.

3. Pregnancy, breastfeeding.

4. Anticoagulation, seizures, severe systemic disease of any sort, advanced metastatic
carcinoid may be relative exclusion criteria prohibiting a full evaluation as
described above under protocol design. However, these medical conditions should not
absolutely exclude participation in the protocol. Participation in each protocol
delineated evaluation procedure will be judged on a case by case basis with patient
safety as the paramount consideration.

Type of Study:


Study Design:

Time Perspective: Prospective

Outcome Measure:

Study the natural history of familial carcinoid tumors

Principal Investigator

Stephen A Wank, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)


United States: Federal Government

Study ID:




Start Date:

March 2008

Completion Date:

Related Keywords:

  • Carcinoid
  • Neuroendocrine
  • PET
  • Gastrointestinal
  • Serotonin
  • Carcinoid Tumor
  • Gastrointestinal Carcinoid Tumor
  • Familial Cancer Tumor
  • Carcinoid Tumor



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