Genetic Factors and Pheochromocytomas in Neoplasia Type 2

NCT05158712 | Unknown

• 1 other identifier: 2020-65
• Study Type: observational
• Target: 14
• Locations: 1 country
• Sites: 1

Brief Summary

Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome associated with activating mutations in the RET proto-oncogene, combining medullary thyroid cancer in approximately 100% of cases and pheochromocytoma in 10-80% of cases. While it is accepted that the RET mutation causes variable penetrance of pheochromocytoma in the MEN2A patient population, there is no pathophysiological explanation for the phenotypic variability among patients with the same mutation, including within the same family. The aim of this study is to better characterise the genetic factors that may explain the variable penetrance of pheochromocytoma in MEN2. To this end, the investigatoes plan to perform a whole exome analysis in 2 families carrying the p. Cys634Arg mutation causing NEM2A, followed in Marseille by the principal investigator: the 1st family has 11 members all aged over 35 years, for which 8 are carriers of pheochromocytoma while 3 have not developed it (while their age is higher than the latest age of diagnosis of pheochromocytoma in this family); the 2nd family has 3 members (father and daughter with pheochromocytoma developed before 25 years; son without pheochromocytoma at an age of 42 years). The investigators believe that the analysis of these patients should allow the isolation of variants on genes potentially involved in the genesis of a pheochromocytoma in MEN2.

Conditions

Neoplasia; Pheochromocytoma

Keywords

neoplasia; pheochromocytoma

Outcome Measures

Primary Outcomes (1)

• Genetic profile

  whole-exome analysis between patients with and without pheochromocytoma

  Month 0

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult patient followed for familial neoplasia type 2 with or without pheochromocytoma

You may qualify if:

• Patient aged 18 years or older
• Male or female patient
• Patient followed in the investigating department for familial NEM2A C634R (multiple endocrine neoplasia type 2) with or without pheochromocytoma
• Patient affiliated to or benefiting from a social security scheme
• Patient having given his non-opposition to participate in this study
• Patient who has given his consent for the genetic analysis carried out in the framework of the study
• Patient able to understand the purpose of the study

You may not qualify if:

• Protected persons (articles L1121-5, L1121-6 and L121-8 of the Public Health Code): pregnant or breastfeeding women, persons deprived of their liberty, under guardianship or curator
• Patients unable to understand the purpose of the study and the information note

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead

Study Sites (1)

APHM - Hôpital de la Conception

Marseille, 13354, France

RECRUITING

MeSH Terms

Conditions

Neoplasms; Pheochromocytoma

Condition Hierarchy (Ancestors)

Paraganglioma; Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms, Nerve Tissue

Study Officials

• François CREMIEUX

  APHM

  STUDY DIRECTOR

Central Study Contacts

Frederic Castinetti

CONTACT

0491384131; frederic.castinetti@ap-hm.fr

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 2, 2021
• First Posted: December 15, 2021
• Study Start: February 2, 2022
• Primary Completion: December 14, 2023
• Study Completion: December 14, 2023
• Last Updated: July 27, 2023

Record last verified: 2023-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)