Clinic, Pathologic and Genetic Characterization of Patients With Familial Carcinoid Tumors (Study From the GTE, Groupe d'étude Des Tumeurs Endocrines)

Study Overview
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Brief Summary
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Small intestine carcinoid tumors are rare. Small intestine Familial Carcinoid Tumors (FCT) are defined by the occurrence of at least 2 cases of this tumor type in first- or second-degree relatives. The estimated prevalence of FCT is 2.6%-3.7% in patients with small intestine carcinoid tumors. Because of its rarity, epidemiologic, clinic and pathologic features of FCT have been scarcely described. Molecular abnormalities associated with FCT have been poorly explored. Constitutional genetic factors predisposing to FCT have not been discovered to date. Only one abnormality (mutation of the IPMK gene) has been reported in one FCT family only, but not found in other series. The main objective of this study is to identify the constitutional factors predisposing to small-intestine FCT (and other midgut localizations: ascending colon and appendix). The secondary objectives are to describe the clinic and pathologic features associated with FCT.

Official Title
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Clinic, Pathologic and Genetic Characterization of Patients With Familial Carcinoid Tumors (Study From the GTE, Groupe d'étude Des Tumeurs Endocrines)

Conditions
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Small Intestinal Carcinoid Tumors

Intervention / Treatment
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* Genetic: Research of constitutional genetic alterations


Participation Criteria
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Eligibility Criteria
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inclusion criteria : Small-intestine (or ascending colon or appendix) neuroendocrine tumor (proven histologically) At least one first- or second-degree relative with a small-intestine (or ascending colon or appendix) neuroendocrine tumor (proven histologically) Agreement to participate to the study exclusion criteria : Subjects unable to provide consent

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Familial Carcinoid Tumors<br>All patients with proven Familial Carcinoid Tumors | Genetic: Research of constitutional genetic alterations<br>* Tumor DNA extraction Blood sample and constitutional DNA extraction CGH-array, Exome sequencing Bio-informatic analysis<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Deletion | Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array) | day 0 | 
| duplication | Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array) | Day 0 | 
| amplification | Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array) | Day 0 | 
| mutation | qualitative Constitutional genetic alterations detected by NGS (Next Generation Sequencing) | Day 0 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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midgut, Neuroendocrine tumors, carcinoid tumors, small intestine, genetic predisposition, hereditary