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Probability of positive genetic testing in patients diagnosed with pheochromocytoma and paraganglioma: Criteria beyond a family history.
- Source :
-
Surgery [Surgery] 2021 Feb; Vol. 169 (2), pp. 298-301. Date of Electronic Publication: 2020 Oct 03. - Publication Year :
- 2021
-
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.<br />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.<br />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%.<br />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.<br /> (Copyright © 2020 Elsevier Inc. All rights reserved.)
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 1532-7361
- Volume :
- 169
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Surgery
- Publication Type :
- Academic Journal
- Accession number :
- 33023754
- Full Text :
- https://doi.org/10.1016/j.surg.2020.08.027