ECE2021 Audio Eposter Presentations Adrenal and Cardiovascular Endocrinology (80 abstracts)
Epidemiology, clinical course, and genetic analysis of pheochromocytomas/paragangliomas: A single centre tertiary care experience over 16 years from crete-greece
Maria Chrysoulaki 1 , Florentia Fostira 2 , Vasiliki Daraki 1 , Grigoria Betsi 1 , Maria Sfakiotaki 1 , Maria Mytilinaiou 1 , Katerina Bouki 1 , Konstantinos Stathias 1 , Konstantinos Spanakis 3 , Panagiotis-Nikolaos Tsakalomatis 1 , Eleni-Konstantina Syntzanaki 1 , Kalliopi Kontolaimaki 1 , Rodanthi Vamvoukaki 1 , Konstantinos Nastos 4 & Paraskevi Xekouki 1
1University Hospital of Heraklion, University of Crete, Medical School., Endocrinology & Diabetes Clinic, Heraklion, Greece; 2National Centre for Scientific Research ’Demokritos’, Molecular Diagnostics Laboratory, Athens, Greece; 3University Hospital of Heraklion, University of Crete, Medical School., Department of Medical Imaging, Heraklion, Greece; 4Attikon University Hospital, National and Kapodistrian University of Athens, 3rd Department of Surgery, Athens, Greece
Background
Pheochromocytomas (PHOEs) and paragangliomas (PGLs) are rare neuroendocrine tumors originating from chromaffin cells. PHEO/PGL incidence ranges between 2–8/million, with 10–49% of these tumors being detected incidentally during imaging performed for other reasons. Up to 40% of PHEOs/PGLs patients have disease-specific germline pathogenic variants. This study aimed to investigate the epidemiology, clinical course, and genetic background of PHEOs/PPGLs in a Greek tertiary reference centre.
Methods
We retrospectively reviewed the data of 21 PHEOs/PGLs patients seen at the Endocrine Clinic of the University Hospital of Heraklion, Crete, Greece, between 1998–2020. Demographic, histopathology and follow-up data were collected. Germline DNA, extracted from patients’ peripheral blood, was subsequently analyzed by a 94-cancer gene panel, followed by MLPA. All participants have signed informed consent.
Results
In total, 21 patients with a mean age of 46.52 ± 18.34 years were included. There was a male predominance (men, n = 15 [71.4%]; women, n=6 [28.6%]). Sixteen patients (76.2%) had PHEO, 4 (19%) had PGL and one patient (4.76%) had both PHEO/PGL. Ten patients (62.5%) had right-sided PHEO, 5 (29.41%) left-sided and 2 (11.76%) bilateral. PGL locations included: retroperitoneum (40%), head/neck (20%), multiple organs (20%), pericardium (20%). Twelve patients (57.1%) presented as an incidentaloma, 8 (38%) as a suspected PHEO and 1 (4.8%) was screened because of neurofibromatosis-1 syndrome. The mean age at presentation did not differ between patients with incidentaloma and suspected PHEO (47.5 ± 14.22 vs 57 ± 14.59 years, P = 0.16). PGLs patients tended to be younger, compared to PHEO (33.4 ± 25.63 vs 51.5 ± 14.32 years, ns). Overall, 15 patients (71.42%) had hypertension: 58.33% of incidentaloma group and 87.5% of PHEO suspected group. Males more frequently presented with incidentaloma (66.66%), and females with PHEO suspected symptoms (60%). Most patients had secreting PHEO/PGL (71.42%). Eighteen patients (85.71%) were operated, while 3 (14.28%) preferred conservative management. The mean tumor maximum diameter was 6.3 ± 2.4 (range 3–11 cm). In most cases the Pheochromocytoma of Adrenal Gland Scaled Score was <3 consistent with benign potential. Although the genetic analysis is still ongoing, primary results revealed the presence of germline pathogenic variants in five patients and more specifically, three in succinate dehydrogenase (SDHx) subunits, all of which developed metastatic disease, and one in each of RET and NF1. Fourteen patients (66.66%) are in remission, four patients (19.04%) have stable disease and three patients (14, 28%) showed disease progression. This is the first attempt to collect, report and characterize PHEO/PGL in Greece.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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