Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients

Recruiting now

Conditions studied: Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract, Neuroendocrine Neoplasm of Lung, Thymic Neuroendocrine Neoplasm, Neuroendocrine Tumor of Pancreas, Gastrointestinal Stromal Tumors, Medullary Thyroid Cancer, Paraganglioma, Pheochromocytoma, Primary Hyperparathyroidism, Pituitary Tumor, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Multiple Endocrine Neoplasia Type 4, Carney Complex, Carney Stratakis Dyad, Carney Triad, Cowden Syndrome, DICER1 Syndrome, Li-Fraumeni Syndrome, Lynch Syndrome, Von Hippel-Lindau Disease, Familial Isolated Pituitary Adenoma, X-Linked Acrogigantism, Neurofibromatosis 1, Tuberous Sclerosis

In brief

Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs. Their clinical behavior is quite variable, encompassing both benign lesions and aggressive tumors that invade surrounding and/or distant structures. NENs may also cause serious morbidity due to hormone oversecretion. NENs are among the most frequently inherited human tumors, presenting either isolated or as part of syndromes in which a single patient or family develops multiple tumors. There are also non-inherited changes in the genetic information of the tumor cells that are potential targets for treatment. Both inherited and non-inherited DNA defects can be identified using modern routine genetic tests which, unfortunately, are not widely available in Mexico. This project seeks to uncover the genetic defects causing NENs in a large cohort of Mexican patients, using three different methods for genetic testing. Adult individuals with various types of NENs from two reference hospitals in Mexico City will be invited to participate. After completing informed consent, blood and, if possible, tissue samples will be obtained from all participants. Clinical details, laboratory results, imaging studies, and histopathological data at disease presentation will be retrieved. An initial screening will be performed by analyzing changes in the sequence of multiple genes that have been associated with the occurrence of NENs. In cases with negative screening, a specific method to assess changes in the number of copies of the same genes will also be employed. Finally, sequences of all DNA regions encoding information required to make proteins will be obtained in selected cases. Analyses will be carried out in blood and, if available, also in tumor tissue samples from study participants. Screening of additional family members will be offered. This project will accurately describe the repertoire of specific defects causing NENs in the study population, and will likely uncover and characterize novel genetic associations. The results will contribute for a better understanding of the alterations within and outside known driver genes that shape syndromic presentations, tumor behaviors, and inheritance patterns in individuals with NENs. These data will contribute to improve the information on the molecular bases of NENs, including alterations that can be used as therapeutic targets.

Key facts

Study ID: NCT06523582
Run by: Universidad Nacional Autonoma de Mexico
People needed: 750
Starts: 2022-08-03
Expected to finish: 2037-03-01
Last updated by the study team: 2024-07-26

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

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.

You may not qualify if…

Age <18 years.
Refusal to give informed consent.

Where it is running

Hospital de Especialidades, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social — Mexico City, Mexico City, Mexico (enrolling)
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán — Mexico City, Mexico City, Mexico (enrolling)
Red de Apoyo a la Investigación, Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México — Mexico City, Mexico City, Mexico (enrolling)

Full record on ClinicalTrials.gov

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