ADDED VALUE OF CATECHOLAMINE PHENOTYPING AND GENETIC SCREENING FOR THE CHARACTERIZATION OF PHEOCHROMOCYTOMA: A BELGIAN MULTICENTRE COHORT

Objective: Pheochromocytomas/paragangliomas (PPGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla or from neural-crest derived sympathetic tissue. They secrete catecholamines in varying amounts, which accounts for their symptomatology. Hypertension is the most common sign, found in approximately 95% of patients. Nowadays, biochemical testing remains the simplest and most widely available method to assess PPGL in first intention. Identification of mutations in known susceptibility genes may help further refining tumor characterization and prognosis assessmen... Mehr ...

Verfasser: Courcelles, Louisiane
Gruson, Damien
Evenepoel, Lucie
Maiter, Dominique
Persu, Alexandre
ENDOCRINE HYPERTENSION
Dokumenttyp: conferenceObject
Erscheinungsdatum: 2021
Schlagwörter: Cardiology and Cardiovascular Medicine / Physiology / Internal Medicine
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29295398
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : http://hdl.handle.net/2078.1/262084

Objective: Pheochromocytomas/paragangliomas (PPGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla or from neural-crest derived sympathetic tissue. They secrete catecholamines in varying amounts, which accounts for their symptomatology. Hypertension is the most common sign, found in approximately 95% of patients. Nowadays, biochemical testing remains the simplest and most widely available method to assess PPGL in first intention. Identification of mutations in known susceptibility genes may help further refining tumor characterization and prognosis assessment. The objective of this study was to analyze clinical characteristics of PPGL from Belgium according to their secretory and genetic profiles. Design and method: We retrospectively analyzed a cohort of 120 cases of non-syndromic PPGL diagnosed in 19 Belgian centres. Clinical characteristics were correlated with three catecholamine phenotypes based on urinary metanephrines (noradrenergic, adrenergic and silent) and with the results of genetic screening. Results: Our cohort included a majority of women (59%). The mean age at diagnosis was 47 ± 7 years. We documented the prevalence of pediatric (7.5%), extra-adrenal (13.3%), bilateral (2.9%), multifocal (5.1%), recurrent (8.5%), metastatic (7.6%) and familial (5.9%) cases. While the yield of positive genetic screening was low (15%), the presence of at least one of these criteria was associated with a 4-fold increased prevalence of mutation (30.3 vs 8.5%; p = 0.03). In the subset in whom metanephrines values were available (n = 62), the prevalence of adrenergic, noradrenergic and silent phenotypes was 58%, 34% and 8% respectively. Patients belonging to these three subsets differed by age at diagnosis (51 ± 14; 38 ± 17; 42 ± 13 years; p = 0.009), the proportion of extra-adrenal tumors (2.8%; 9.5%; 40%; p = 0.016), pediatric (2.8%; 19%; 0%; p = 0.074) and familial (0%; 18.8%; 0%; p = 0.041) cases. Finally, an excess of dopamine secretion was associated with a higher ...