Open AccessClinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing
Author(s) -
Chew Winston Hong Wern,
Courtney Eliza,
Lim Kok Hing,
Li Shao Tzu,
Chen Yanni,
Tan Min Han,
Chung Alexander,
Khoo Joan,
Loh Amos,
Soh Shui Yen,
Iyer Prasad,
Loh Lih Ming,
Ngeow Joanne
Publication year - 2017
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.313
Subject(s) - paraganglioma , pheochromocytoma , medicine , genetic testing , sdhb , sdhd , germline mutation , metanephrines , genetic counseling , pediatrics , pathology , mutation , genetics , biology , gene
Background Pheochromocytomas and paragangliomas ( PPGL s) are neuroendocrine tumors of the adrenal glands and paraganglia, occurring sporadically or as a range of hereditary tumor syndromes. About 30% of PPGL s are attributed to germline mutations. Clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background. Genetic testing for PPGL s is not well studied in Southeast Asia. We reviewed clinical management of PPGL s in Singapore, highlighting current gaps in clinical practice. Methods Medical records of patients with PPGL s between 2005 and 2016 were reviewed. Diagnosis was confirmed histologically and stratified into sporadic or familial/syndromic ( FS ). Results Twenty‐seven (21.8%) patients were referred to the Cancer Genetics Service ( CGS ). FS PPGL s (18.5%) and extra‐adrenal PPGL s (58.1%) incidences were higher than previous studies. Referrals were lower for sporadic PPGL s compared to FS PPGL s (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. Conclusion Opportunities for genetic testing are frequently missed due to low referral rates in patients with apparently sporadic PPGL s, particularly between ages 20‐60.