Abstract

BackgroundPheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors of the adrenal glands and paraganglia, occurring sporadically or as a range of hereditary tumor syndromes. About 30% of PPGLs are attributed to germline mutations. Clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background. Genetic testing for PPGLs is not well studied in Southeast Asia. We reviewed clinical management of PPGLs in Singapore, highlighting current gaps in clinical practice.MethodsMedical records of patients with PPGLs between 2005 and 2016 were reviewed. Diagnosis was confirmed histologically and stratified into sporadic or familial/syndromic (FS).ResultsTwenty‐seven (21.8%) patients were referred to the Cancer Genetics Service (CGS). FS PPGLs (18.5%) and extra‐adrenal PPGLs (58.1%) incidences were higher than previous studies. Referrals were lower for sporadic PPGLs compared to FS PPGLs (3.7% vs. 100%). Referrals were highest at diagnosis age <20 years old (80%) and decreased with increasing age; ≥20–<40 years old (32.1%), ≥40–<60 years old (10.6%). Genetic testing was taken up in 12/27 (44.4%) patients of which 7/12 (58.3%, 3 SDHB, 2 SDHD, 2 VHL) had germline mutations.ConclusionOpportunities for genetic testing are frequently missed due to low referral rates in patients with apparently sporadic PPGLs, particularly between ages 20‐60.

Highlights

  • Pheochromocytomas (PCC) and paragangliomas (PGL), together abbreviated as (PPGLs), are rare neural crest derived tumors forming from the adrenal medulla and extra-adrenal paraganglia, respectively

  • Twenty-seven (21.8%) patients were referred to the Cancer Genetics Service (CGS)

  • Two VHL mutations were found with both having a missense at codon 191 of exon 1 and codon 499 of exon 3, respectively. In this first Singaporean study, we provide a picture of the clinical characteristics and diagnostic sensitivity of patients with Pheochromocytomas and paragangliomas (PPGLs) in a South-East Asian population of both children and adults, thereby highlighting current gaps in management

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Summary

Introduction

Pheochromocytomas (PCC) and paragangliomas (PGL), together abbreviated as (PPGLs), are rare neural crest derived tumors forming from the adrenal medulla and extra-adrenal paraganglia, respectively. Postoperative PPGLs have a 15% relapse risk, with most being metastatic recurrence that can occur decades after surgery, implying a need for effective screening and cheap long-term follow-up management (Amar et al 2012). While various scoring systems have been suggested to predict the malignant potential of PPGLs, the low sensitivity of these tools make their utilization unreliable (Lenders et al 2014). Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors of the adrenal glands and paraganglia, occurring sporadically or as a range of hereditary tumor syndromes. Genetic testing for PPGLs is not well studied in Southeast Asia. We reviewed clinical management of PPGLs in Singapore, highlighting current gaps in clinical practice

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