Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients

Launched by UNIVERSIDAD NACIONAL AUTONOMA DE MEXICO · Jul 22, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the genetic factors that cause neuroendocrine neoplasms (NENs) in Mexican patients. NENs are tumors that can develop in various organs and may produce hormones, leading to a wide range of health issues. The trial aims to identify both inherited and non-inherited genetic changes that contribute to these tumors using advanced genetic testing methods. By doing so, researchers hope to gain insights into how these tumors behave and how they can be treated more effectively.

To participate, individuals must be adults diagnosed with specific types of NENs, either as standalone cases or as part of certain genetic syndromes. Participants will provide blood and possibly tissue samples, alongside clinical information like lab results and imaging studies. The study will analyze genetic material to find defects linked to NENs, and family members may also be invited for testing. This research is crucial because it seeks to improve understanding of the genetic basis of NENs, which could eventually lead to better treatments and care for patients.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• Adult patients with a new or previous clinical diagnosis of any of the following conditions:
• • Isolated NENs with sporadic presentation, including bronchopulmonary NENs, gastrointestinal NENs, medullary thyroid carcinoma, pancreatic NENs, paragangliomas, pheochromocytomas, pituitary neuroendocrine tumors, and primary hyperparathyroidism.
• • Familial isolated NENs, including familial isolated pituitary adenoma, familial pheochromocytomas and paragangliomas, familial primary hyperparathyroidism, familial gastrointestinal stromal tumors and X-linked acrogigantism.
• • Clinical syndromes encompassing NENs, with familial or sporadic presentation, including Carney complex, Carney-Stratakis syndrome, Carney triad, Cowden syndrome, DICER1 syndrome, Li-Fraumeni syndrome, Lynch syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, multiple endocrine neoplasia type 4, neurofibromatosis type 1, Pacak-Zhuang syndrome, paraganglioma, pheochromocytoma and pituitary adenoma syndrome, tuberous sclerosis complex, Von Hippel Lindau syndrome.
• Exclusion criteria:
• • Age \<18 years.
• • Refusal to give informed consent.