NCT03622333

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

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 60 (estimated)
• Sponsor: CHU de Reims · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Small Intestinal Carcinoid Tumors

Interventions

Type	Name	Description
GENETIC	Research of constitutional genetic alterations	Tumor DNA extraction Blood sample and constitutional DNA extraction CGH-array, Exome sequencing Bio-informatic analysis

Timeline

• Start date: 2018-05-28
• Primary completion: 2022-05-28
• Completion: 2022-11-28
• First posted: 2018-08-09
• Last updated: 2018-08-20

Locations

1 site across 1 country: France