Site-specific biology and pathology of gastroenteropancreatic neuroendocrine tumors.
Günter Klöppel, Guido Rindi, Martin Anlauf...
https://pubmed.ncbi.nlm.nih.gov/17684761Actively Recruiting
Age: 18Years +
All Genders
Healthy Volunteers
ID06523582
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Led by Universidad Nacional Autonoma de Mexico · Updated on 2024-07-26
750
Participants Needed
3
Research Sites
N/A
Total Duration
On this page
Sponsors
U
Universidad Nacional Autonoma de Mexico
Lead Sponsor
I
Instituto Mexicano del Seguro Social
Collaborating Sponsor
AI-Summary
What this Trial Is About
Neuroendocrine neoplasms (NENs) are a diverse group of tumors that arise from hormone-producing cells and can develop in various organs. Their behavior ranges from benign to aggressive, sometimes causing serious health problems due to excess hormone production. Many NENs are inherited or part of genetic syndromes, while others arise from non-inherited genetic changes. This research aims to identify genetic defects causing NENs in a large group of Mexican patients, improving understanding of their molecular causes and potential treatment targets. This study collects blood and tissue samples from adult patients with different types of NENs at two hospitals in Mexico City. Participants undergo genetic testing using three methods: targeted gene sequencing, analysis of gene copy number changes, and full exome sequencing in selected cases. The study also gathers detailed clinical, laboratory, imaging, and pathology information, and offers genetic screening to family members when appropriate. Samples and data are carefully stored and analyzed to detect genetic variants associated with NENs. Participants provide blood and, when possible, tumor tissue samples for DNA analysis. Researchers collect clinical and family history data, along with laboratory and imaging results. The main outcome is identifying genetic defects linked to NENs over a follow-up period of up to 15 years. Participants who want to know their genetic results receive detailed reports. The study seeks to correlate genetic findings with clinical features and outcomes, aiming to discover new genetic associations and improve future diagnosis and treatment strategies.
CONDITIONS
Brief Title
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Who Can Participate
Age: 18Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Adults aged 18 years or older
- Diagnosis of any type of isolated or familial neuroendocrine neoplasm (NEN), including bronchopulmonary, gastrointestinal, pancreatic, medullary thyroid carcinoma, paragangliomas, pheochromocytomas, pituitary tumors, and primary hyperparathyroidism
- Diagnosis of familial isolated NENs such as familial pituitary adenoma, familial pheochromocytomas and paragangliomas, familial primary hyperparathyroidism, familial gastrointestinal stromal tumors, and X-linked acrogigantism
- Diagnosis of clinical syndromes involving NENs, including Carney complex, Carney-Stratakis syndrome, Carney triad, Cowden syndrome, DICER1 syndrome, Li-Fraumeni syndrome, Lynch syndrome, multiple endocrine neoplasia types 1, 2, and 4, neurofibromatosis type 1, Pacak-Zhuang syndrome, paraganglioma-pheochromocytoma and pituitary adenoma syndrome, tuberous sclerosis complex, and Von Hippel Lindau syndrome
You will not qualify if you...
- Age younger than 18 years
- Refusal to give informed consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - At recruitment and ongoing sample collection as needed
Participants provide blood and tumor tissue samples for genetic testing to identify germline and somatic genetic defects associated with neuroendocrine neoplasms.
1 visit at recruitment; additional visits may occur depending on surgical tumor excision
Long-term Monitoring
Duration - Up to 15 years
Participants are followed prospectively for up to 15 years to collect clinical outcomes and correlate genetic findings with disease progression and treatment responses.
Periodic visits as clinically indicated for follow-up and outcome data collection
Trial Site Locations
Total: 3 locations
1
Hospital de Especialidades, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social
Mexico City, Mexico City, Mexico, 06720
Actively Recruiting
2
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán
Mexico City, Mexico City, Mexico, 14080
Actively Recruiting
3
Red de Apoyo a la Investigación, Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México
Mexico City, Mexico City, Mexico, 14080
Actively Recruiting
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Research Team
L
Laura C Hernández Ramírez, MD, PhD
C
Claudia Ramírez Rentería, MD, MSc
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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