ECE2021 Audio Eposter Presentations Endocrine-Related Cancer (25 abstracts)
Clinical presentation, phenotype, and germline variants of pheochromocytoma and paraganglioma: A three-decade clinical experience
Diana Borges Duarte 1 , Miguel Saraiva 1 , Marta Almeida Ferreira 2 , Lia Ferreira 1 , Maria Teresa Pereira 1 , André Carvalho 1 , Cláudia Amaral 1 , Joana Vilaverde 1 , Cláudia Freitas 1 , Jorge Dores 1 , Rui Carvalho 1 & Isabel Palma 1
1Centro Hospitalar e Universitário do Porto – Hospital de Santo António, Department of Endocrinology, Diabetes and Metabolism, Portugal; 2Centro Hospitalar Vila Nova de Gaia-Espinho, Department of Endocrinology, Portugal
Introduction
Pheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia(paragangliomas).
Aim
To characterise demographic, clinical, and biochemical/genetic features of a cohort of patients with pheochromocytoma and paraganglioma (PPGL), assessing for differences between two-time periods over a three-decade span.
Methods
A retrospective, cross-sectional study was performed on patients with histologically proven PPGL diagnosed between 1988 and 2020 at our center.Demographic, clinical, biochemical and imagiological data at presentation, genetic testing and clinical outcomes at the last follow-up were retrieved. To investigate potential differences over the past 30 years, we divided the cohort into two groups based on the year of diagnosis and a previous published analysis. Group 1 was comprised of patients diagnosed between 1988–2010 (n = 25) and group 2 between 20102020 (n = 24).
Results
Forty-nine patients(53.1% male) were included; mean age at diagnosis was 46.0 ± 17.0 years with a median follow-up time of 5.6 (2.3–9.6) years. Pheochromocytoma was diagnosed in 85.7% (n = 42);bilateral in 3 patients; the remainder were paragangliomas. One individual presented a simultaneous bilateral pheochromocytoma and abdominal paraganglioma. Most patients presented with de novo or refractory hypertension(53.1%), typical spells(34.7%) or an incidentally found lesion on imaging(30.6%).Urinary fractionated metanephrines were measured in all patients, 89.8%(n = 44) had evidence of increased catecholamine secretion(3 were paragangliomas).Noradrenergic phenotype was found on 27.3% with adrenergic co-secretion on the remainder. Conventional and functional imaging(mostly MIBG scan) was performed in most. At diagnosis, median PPGL dimension was 40 (29–64) mm and 10.2% were metastatic. Genetic testing was performed in 36.7%(n = 18) with a germline variant on a PPGL susceptibility gene found in half of them(MAX, VHL and SDHB).On group comparison, there is a trend for lower age at diagnosis with a statistically significant increased(P < 0.05) antihypertensive treatment use with lower systolic blood pressure at diagnosis. We also found an increased use of genetic testing and lower use of MIBG as functional imaging modality in more recent years, reaching statistical significance.
Conclusion
We detail the presentation and work-up of a cohort of PPGL; over a 30-year period the proportion of patients submitted to genetic testing increased significantly(from 21% to 54%).Our work identifies currently followed patients to be referred for genetic testing.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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