Genetic Study in Pheochromocytoma: Is It Possible to Stratify the Risk of Hereditary Pheochromocytoma?

Abstract Introduction: It is estimated that 30–40% of patients with apparently sporadic pheochromocytomas (PHEOs) have an inherited predisposition syndrome. The aim of our study was to develop a predictive model of hereditary PHEO based on the clinical, hormonal, and radiological features present at...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Neuroendocrinology 2023-05, Vol.113 (6), p.657-666
Hauptverfasser: Araujo-Castro, Marta, Mínguez Ojeda, César, García Sanz, Iñigo, Calatayud, Maria, Hanzu, Felicia, Mora, Mireia, Vicente, Almudena, Blanco Carrera, Concepción, de Miguel Novoa, Paz, López García, María del Carmen, Lamas, Cristina, Manjón-Miguélez, Laura, del Castillo Tous, María, Rodríguez de Vera, Pablo, Barahona San Millán, Rebeca, Recasens, Mónica, Tomé Fernández-Ladreda, Mariana, Valdés, Nuria, Gracia Gimeno, Paola, Robles Lazaro, Cristina, Michalopoulou, Theodora, Parra Ramírez, Paola, Marazuela, Mónica, Álvarez Escolá, Cristina, García Centeno, Rogelio
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Abstract Introduction: It is estimated that 30–40% of patients with apparently sporadic pheochromocytomas (PHEOs) have an inherited predisposition syndrome. The aim of our study was to develop a predictive model of hereditary PHEO based on the clinical, hormonal, and radiological features present at the diagnosis of patients with PHEOs. Methods: A retrospective multicenter cohort study of patients with PHEOs with available genetic study from 18 tertiary hospitals. Clinical, biochemical, and radiological features were used to build a multivariate logistic regression model. The estimation of all possible equations was used to select the model with the best diagnostic accuracy (lower Akaike index). Results: A total of 245 patients were included: 169 (69.0%) patients with sporadic PHEOs and 76 (31%) with hereditary PHEOs. The parsimonious predictive model with the highest diagnostic accuracy for the prediction of hereditary PHEO combined the variables age, non-cardiovascular disease, urinary norepinephrine levels, and tumor size. The area under the ROC curve of this model was 0.800 (0.705–0.887). Based on the predictive model, the probability of hereditary PHEO in patients older than 60 years with cardiovascular disease, high levels of urinary norepinephrine and unilateral PHEOs >60 mm was
ISSN:0028-3835
1423-0194
DOI:10.1159/000529319