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

Not Applicable

• Conditions: Small Intestinal Carcinoid Tumors
• Interventions: Genetic: Research of constitutional genetic alterations

• Registration Number: NCT03622333
• Lead Sponsor: CHU de Reims

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2018-02
• Study First Submitted: 2018-02-22
• Study Start: 2018-05-28
• Study First Submitted QC: 2018-08-07
• Study First Posted: 2018-08-09
• Last Update Submitted: 2018-08-17
• Last Update Posted: 2018-08-20
• Primary Completion: 2022-05-28
• Study Completion: 2022-11-28

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 60

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Familial Carcinoid Tumors	Research of constitutional genetic alterations	All patients with proven Familial Carcinoid Tumors

Primary Outcome Measures

Name	Time	Method
mutation	Day 0	qualitative Constitutional genetic alterations detected by NGS (Next Generation Sequencing)
amplification	Day 0	Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
duplication	Day 0	Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)
Deletion	day 0	Quantitative Constitutional genetic alterations detected by comparative genomic hybridization (CGH array)

Trial Locations

Locations (1)

Damien JOLLY; 🇫🇷 Reims, France