Genetic tumour syndromes
Conditions
Interventions
Genetic Endocrine Tumor Syndrome Observation Group:None
Sponsors
Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.All newly diagnosed patients meeting the following clinicopathological criteria were consecutively enrolled: (1) Tumor types: All pathologically confirmed high-risk tumor types, including parathyroid tumors, adrenocortical tumors, pheochromocytoma/paraganglioma, and pancreatic neuroendocrine tumors. (2) Clinical context: Regardless of personal or family history, enrollment was eligible if any of the following suggestive features were present: A. Younger age of onset (e.g., <40 years for parathyroid diseases, <50 years for pheochromocytoma). B. Multiple, bilateral, or recurrent tumors. C. Tumors with specific, rare pathological morphological features (e.g., hypercellularity, marked nuclear atypia). D. Accompanying clinical manifestations suggestive of other syndromes (e.g., refractory hypertension, mucocutaneous neuromas). 2.All multimodal data required for model operation were accessible, including complete clinical medical records, relevant imaging reports, paraffin-embedded pathological sections, and basic laboratory test results.
Exclusion criteria
Exclusion criteria: 1.Patients who have a confirmed genetic diagnosis of a hereditary endocrine tumor syndrome in themselves or their first-degree relatives. 2.Patients missing any core data essential for the model's operation, rendering the model unusable. 3.Patients unable to complete subsequent genetic testing. 4.Patients for whom genetic testing is already strongly indicated and planned by clinicians regardless of the model's output, due to a compelling family history or other typical clinical manifestations.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The area under the curve of the test subject;Accuracy;Sensitivity;Specificity;Positive predictive value and negative predictive value; | — |
Countries
China
Contacts
Public ContactXiu Nie
Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
Outcome results
None listed