Pheochromocytoma: a retrospective study from a single center

Abstract

Objectives. Pheochromocytoma (PCC) is a neuroendocrine tumor derived from chromaffin tissue more frequently found in the adrenal medulla. Many discoveries over the last decade have significantly improved our understanding of PCC. Methods. We retrospectively reviewed all patients with a histological diagnosis of PCC at the Centro Hospitalar Universitario de Sao Joao, a tertiary and university hospital in Oporto, Portugal, between January 2009 and December 2017. Results. The study group included 33 patients. In most cases the diagnosis was suspected with more than half of patients presenting with hypertension and the third diagnosed during the work-up of an adrenal incidentaloma. About half of the patients was referred for genetic testing and 6 patients had a positive inherited susceptibility genetic pathogenic variant associated with classic cancer predisposition syndromes and also associated with newly described genes. In the incidentaloma group, genetic testing was performed in 3 (9%) patients with only 1 positive result. In the suspected group, 15 (45%) genetic tests were performed. Conclusions. In contrast to other studies, where only a minority of patients with PCC were referred for genetic counselling, in our study 54% of patients was referred for genetic testing. This study suggests that clinicians were correctly recognizing the need to refer young patients and patients with positive family history. However, opportunities for genetic testing are frequently missed due to low referral rates in patients with apparently sporadic PCC, particularly older than 30 years old. It is imperative that all the providers involved in the multidisciplinary care of patients with pheochromocytomas are aware of the genetic disorders associated with these unique tumors.

The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center

“…As seen in previous research, in our study, hypertension remained as the hallmark clinical sign of pheochromocytoma [21,22].…”

“…This series demonstrated higher genetic testing referral rates (81,81%) than in previous studies, which highlights the importance of genetic characterization for clinical management and counselling [22,28].…”

Management of concurrent aortic stenosis and pheochromocytoma

“…However, while specific, this complete triad may only be present in as low as 9–10% of patients 7 8. Furthermore, 10–33% of patients may be fully asymptomatic 7 8. Given this, many patients go undiagnosed and are treated with antihypertensive medications until the pheochromocytoma is incidentally found on other testing or imaging, as in our case.…”

“…A triad of symptoms involving headache, sweating and palpitations has been classically described. However, while specific, this complete triad may only be present in as low as 9–10% of patients 7 8. Furthermore, 10–33% of patients may be fully asymptomatic 7 8.…”

“…The clinical presentation of pheochromocytomas can be variable, with non-specific signs and symptoms including sweating, headaches, palpitations, loss of weight, vertigo, asthenia, anxiety, nausea/vomiting, tremor, abdominal pain or angina, making it difficult to identify and diagnose 7. Hypertension is the most common symptom, with 42.4–93.9% of patients affected 7 8. A triad of symptoms involving headache, sweating and palpitations has been classically described.…”