Protocol Number: 08-DK-0098

Title:

Natural History of Familial Carcinoid Tumor

Number:

08-DK-0098

Summary:

This study will evaluate families with a history of carcinoid cancer to determine ways to improve early detection and to find the gene that may cause the tumors. Carcinoid tumors usually originate in hormone-producing cells that line the small intestine or other cells of the digestive tract. The tumors are slow-growing and usually take many years before they cause symptoms. It is thought that these tumors occur more often in some families, passed from one generation to the next by inherited genes.

Members of families in which two or more immediate blood relatives have had gastrointestinal carcinoid tumors may be eligible for this study. Unaffected spouses of family members diagnosed with carcinoid cancer are also requested to participate.

Participants undergo a medical evaluation every 2 years during a 3- to 5-day hospital stay at the NIH Clinical Center. (Unaffected spouses undergo only the initial evaluation.) All participants have a personal and family medical history obtained and undergo a physical examination, blood and urine tests and genetic counseling. People who already have a carcinoid tumor or are at risk of developing a carcinoid tumor have the following additional procedures to determine the presence of carcinoid tumor and its location or spread to other areas of the body:

Children between 5 and 10 years of age: Medical history, physical examination and blood tests.

Children between 10 and 18 years of age: Medical history and physical examination. Additional tests for children in this group with symptoms or signs of carcinoid tumor may include video capsule endoscopy, computed tomography (CT) scans, magnetic resonance imaging (MRI) and somatostatin receptor scintigraphy (Octreoscan).

Adults:

-Upper endoscopy: Examination of the esophagus, stomach and upper small intestine using a flexible tube (endoscope) passed from the throat through the upper gastrointestinal tract.

-Colonoscopy: Examination of the colon using an endoscope inserted through the anus.

-Capsule endoscopy: Visualization of the small intestine by ingesting a disposable, vitamin-pill sized video capsule that has its own camera and light source.

-CT of the chest and abdomen: X-ray examination of the chest and abdominal organs.

-MRI of the abdomen: Examination of the abdominal organs using a magnetic field and radio waves.

-Octreoscan: Nuclear imaging scan performed over 1 to 3 days to detect the primary site of the tumor and any places it has spread.

-Positron emission tomography (PET): Nuclear imaging scan to look at tumor activity.

Sponsoring Institute:

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

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Adult patients (willing and able to give informed consent) 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.

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

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.

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.

EXCLUSION CRITERIA:

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.

Inability to give informed consent.

Family members less than 5 years of age.

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.

Special Instructions:

Currently Not Provided

Keywords:

Neuroendocrine

PET

Gastrointestinal

Serotonin

Recruitment Keyword(s):

Carcinoid Tumor

Gastrointestinal Carcinoid Tumor

Familial Cancer Tumor

Condition(s):

Carcinoid

Investigational Drug(s):

[18F]-DOPA

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Diabetes and Digestive and Kidney Diseases

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Caplin ME, Buscombe JR, Hilson AJ, Jones AL, Watkinson AF, Burroughs AK. Carcinoid tumour. Lancet. 1998 Sep 5;352 (9130):799-805.

Modlin IM, Lye KD, Kidd M. A 5-decade analysis of 13,715 carcinoid tumors. Cancer. 2003 Feb 15;97 (4):934-59.

Capella C, Heitz PU, Hšfler H, Solcia E, Klšppel G. Revised classification of neuroendocrine tumours of the lung, pancreas and gut. Virchows Arch. 1995;425(6):547-60

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