1. Probability of positive genetic testing in patients diagnosed with pheochromocytoma and paraganglioma: Criteria beyond a family history.
- Author
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Alobuia WM, Ammar S, Tyagi M, Ghosh C, Gunda V, Annes JP, and Kebebew E
- Subjects
- Adolescent, Adrenal Gland Neoplasms genetics, Adrenal Gland Neoplasms pathology, Adrenal Gland Neoplasms surgery, Adrenal Glands pathology, Adrenal Glands surgery, Adrenalectomy, Adult, Age Factors, DNA Mutational Analysis statistics & numerical data, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Logistic Models, Male, Medical History Taking statistics & numerical data, Middle Aged, Odds Ratio, Paraganglioma genetics, Paraganglioma pathology, Paraganglioma surgery, Pheochromocytoma genetics, Pheochromocytoma pathology, Pheochromocytoma surgery, Preoperative Period, ROC Curve, Retrospective Studies, Tumor Burden, Young Adult, Adrenal Gland Neoplasms diagnosis, Biomarkers, Tumor genetics, Genetic Testing statistics & numerical data, Paraganglioma diagnosis, Pheochromocytoma diagnosis
- Abstract
Background: Genetic testing for germline pheochromocytoma and paraganglioma susceptibility genes is associated with improved patient management. However, data are currently sparse on the probability of a positive testing result based on an individual's clinical presentation. This study evaluates clinical characteristics for association with testing positive for known pheochromocytoma and paraganglioma susceptibility genes., Methods: This retrospective analysis examined 111 patients with a diagnosis of pheochromocytoma and paraganglioma who underwent genetic testing. Logistic regression and receiver operating characteristic analyses were performed to identify factors associated with a positive genetic testing result. Probabilities were then calculated for combinations of significant factors to determine the likelihood of a positive test result in each group., Results: Of 32 patients with a family history of pheochromocytoma and paraganglioma, 31 (97%) had a germline mutation detected. Of 79 patients without a family history, 24 (30%) had a pathogenic germline mutation detected. In multivariate analysis, a positive family history, aged ≤47 years, and tumor size ≤2.9 cm were independent factors associated with a positive genetic testing result. Patients meeting all 3 criteria had a 100% probability compared with 13% in those without any of the criteria. In addition to a positive family history, having either aged ≤47 years or tumor size ≤2.9 cm resulted in a 90% and 100% probability of a positive result, respectively. In the absence of a family history, the probability in patients who were aged ≤47 years and had a tumor size ≤2.9 cm was 60%., Conclusion: In addition to a family history of pheochromocytoma and paraganglioma, aged ≤47 years, and tumor size ≤2.9 cm are associated with a higher probability of testing positive for a pheochromocytoma and paraganglioma susceptibility gene mutation. Patients meeting all 3 criteria have a 100% probability of a positive genetic testing result., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2021
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