Genotype and Clinical Features in Pheochromocytoma/Paraganglioma

IRMA ARMA; LUCAS COSTA; GABRIELA SANSO; PATRICIO GARCIA MARCHIÑENA; PATRICIA FAINSTEIN DAY; ERICA SPRINGER; MARIA L VIALE; PAULA CUFFARO; VALERIA C DE MIIGUEL; ESTER G SCHEINFELD; MARIA P SERRA; FEDERICO CAYOL; ANDREA L PAISSAN

Sidney

Congreso; International Symposium on Phaeochromocytoma and Paraganglioma 2017; 2017

Genotype and Clinical Features in Pheochromocytoma/ParagangliomaValeria de Miguel 1 , Andrea Paissan 1 , Patricio García Marchiñena 1 , Federico Cayol 1 , Paula Cuffaro 1 , MaríaPía Serra 1 , María Lorena Viale 1 , Gabriela Scheinfeld, Erica Springer 1 , Irene Arma 1 , Gabriela Sansó 2 ,Lucas Costa 1 , Patricia Fainstein Day 11 Hospital Italiano de Buenos Aires2 Centro de Investigaciones Endocrinológicas (CEDIE), Hospital de Niños Ricardo GutierrezPresenter: Valeria de Miguel, MDEmail: valeria.demiguel@hospitalitaliano.org.arBackground:Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. Nearly40% of patients with PCC/PGL have germline mutations. Genetic screening algorithims arebased on specific clinical features. Phenotype differences from PCC/PGL manifest as differenthormonal profile, anatomical localization and risks of recurrence or metastatic disease.According to molecular biology and genetic-based classification PCC/PGL can be divided inthree Clusters: Cluster 1a (Krebs Cycle), Cluster 1b (Pseudohypoxic) and Cluster 2 (Kinasessignaling).In order to characterize these groups, we retrospectively reviewed the electronic charts ofPCC/PGL patients seen at our hospital from 2007 until 2017. We identified 54 PCC/PPGLdiagnosed patients. Thirteen (13) had positive genetic testing, one had clinical diagnosis of VHLand two of NF 1 (29.6%).Sixteen patients were classified in three clusters: Cluster 1a (3 SDHB and 1 SDHD), Cluster 1b(5 VHL), Cluster 2 (2 MEN 2 A, 2 MEN 2 B, 2 NF1 and 1 MEN1).Cluster 1aN: 4Cluster 1bN: 5Cluster 2N: 7Mean age at diagnosis 44 years old 24 years old 32 years oldMale/Female 3/1 1/4 5/2Clinical Presentation Signs and Symptoms Signs andSymptomsSigns and Symptoms (2),Genetic Predisposition (4),Incidentaloma (1)Biochemical Phenotype Noradrenergicphenotype (3),biochemical silent (1)Noradrenergicphenotype (4)Adrenergic phenotype (4),biochemical silent (3)Localization Bilateral PCC (1), headand neck PGL (1),abdominal PGL (4)Bilateral PCC (4),unilateral PCC (1),abdominal PGL (1)Bilateral PCC (3),unilateral PCC (4)Size tumor range 4-6 cm 4-6 cm 2-4 cmRecurrence/Metastasis 2 metastasis 1 recurrenceNoConclusions:Genetic syndromes associated with PCC / PGL are present in a significant proportion ofpatients. It is essential to carry out the genetic workup and identify particular clinical andbiochemical characteristics, along with different risks of recurrence and metastatic disease