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

Araujo-Castro M. · Mínguez Ojeda C. · García Sanz I. · Calatayud M. · Hanzu F. · Mora M. · Vicente A. · Blanco Carrera C. · De Miguel Novoa P. · López García M.D.C. · Lamas C. · Manjón-Miguélez L. · del Castillo Tous M. · Rodríguez de Vera P. · Barahona San Millán R. · Recasens M. · Tomé Fernández-Ladreda M. · Valdés N. · Gracia Gimeno P. · Robles Lazaro C. · Michalopoulou T. · Parra Ramírez P. · Marazuela M. · Álvarez Escolá C. · García Centeno R.

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Article / Publication Details 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 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

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