Genetic study in pheochromocytoma ¿is it possible to stratify the risk of hereditary pheochromocytoma?

Autor: Marta Araujo-Castro, César Mínguez Ojeda, Iñigo García Sanz, Maria Calatayud, Felicia Hanzu, Mireia Mora, Almudena Vicente, CONCEPCION Blanco Carrera, Paz De Miguel Novoa, María Del Carmen López García, Cristina Lamas, Laura Manjón-Miguélez, María del Castillo Tous, Pablo Rodríguez de Vera, Rebeca Barahona San Millán, Mónica Recasens, Mariana Tomé Fernández-Ladreda, Nuria Valdés, Paola Gracia Gimeno, Cristina Robles Lazaro, Theodora Michalopoulou, Paola Parra Ramírez, Mónica Marazuela, Cristina Álvarez Escolá, Rogelio García Centeno
Rok vydání: 2023
Předmět:
Zdroj: Neuroendocrinology.
ISSN: 1423-0194
0028-3835
Popis: 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 pheochromocytoma (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 (AIC)). 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 of 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
Databáze: OpenAIRE
Externí odkaz: